Variant report

Variant	esv3428734
Chromosome Location	chr7:5458676-5468674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2412)
CpG islands
(count:2446)
Chromatin interactive
region (count:54)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2412 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:5466268-5466921	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:5468468-5469289	K562	blood:	n/a	n/a
3	ARID3A	chr7:5464879-5465895	K562	blood:	n/a	chr7:5464990-5465006 chr7:5464989-5465005
4	ARID3A	chr7:5463209-5465855	HepG2	liver:	n/a	chr7:5463349-5463365 chr7:5464990-5465006 chr7:5464989-5465005
5	ARID3A	chr7:5468509-5469644	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:5463524-5464106	K562	blood:	n/a	n/a
7	ARID3A	chr7:5461400-5461795	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:5461514-5461820	K562	blood:	n/a	n/a
9	ARID3A	chr7:5467475-5467965	HepG2	liver:	n/a	n/a
10	ATF1	chr7:5463562-5463898	K562	blood:	n/a	n/a
11	ATF1	chr7:5468476-5468852	K562	blood:	n/a	n/a
12	ATF2	chr7:5465023-5465529	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr7:5466439-5466714	H1-hESC	embryonic stem cell:	n/a	n/a
14	ATF2	chr7:5458219-5458881	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr7:5465052-5465472	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr7:5463571-5463832	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr7:5465047-5465519	A549	lung:	n/a	n/a
18	ATF3	chr7:5465062-5465432	A549	lung:	n/a	n/a
19	ATF3	chr7:5468443-5468831	K562	blood:	n/a	n/a
20	BACH1	chr7:5465153-5465747	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr7:5468492-5468661	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr7:5461491-5462023	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr7:5461620-5461693	K562	blood:	n/a	n/a
24	BACH1	chr7:5467299-5467963	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr7:5463385-5463388	K562	blood:	n/a	n/a
26	BACH1	chr7:5466234-5466947	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr7:5465094-5465439	K562	blood:	n/a	n/a
28	BACH1	chr7:5463610-5463724	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr7:5464721-5464746	H1-hESC	embryonic stem cell:	n/a	n/a
30	BCL3	chr7:5465059-5465805	A549	lung:	n/a	chr7:5465451-5465460 chr7:5465453-5465466
31	BCL3	chr7:5464936-5465766	A549	lung:	n/a	chr7:5465451-5465460 chr7:5465453-5465466
32	BCL3	chr7:5458034-5459081	A549	lung:	n/a	n/a
33	BCL3	chr7:5461634-5462217	A549	lung:	n/a	chr7:5461839-5461848
34	BCL3	chr7:5461327-5462330	A549	lung:	n/a	chr7:5461839-5461848
35	BHLHE40	chr7:5464146-5464207	K562	blood:	n/a	n/a
36	BHLHE40	chr7:5463586-5463907	K562	blood:	n/a	n/a
37	BHLHE40	chr7:5458291-5458835	HepG2	liver:	n/a	n/a
38	BHLHE40	chr7:5465969-5466908	HepG2	liver:	n/a	chr7:5466890-5466906
39	BHLHE40	chr7:5465243-5465801	K562	blood:	n/a	n/a
40	BHLHE40	chr7:5462614-5462696	K562	blood:	n/a	n/a
41	BHLHE40	chr7:5460374-5460410	GM12878	blood:	n/a	n/a
42	BHLHE40	chr7:5463575-5464347	HepG2	liver:	n/a	n/a
43	BHLHE40	chr7:5458837-5458907	K562	blood:	n/a	n/a
44	BHLHE40	chr7:5468456-5469884	K562	blood:	n/a	chr7:5469242-5469258 chr7:5469247-5469263
45	BHLHE40	chr7:5466157-5466863	K562	blood:	n/a	n/a
46	BHLHE40	chr7:5467380-5470025	HepG2	liver:	n/a	chr7:5469242-5469258 chr7:5469247-5469263 chr7:5467859-5467875
47	BHLHE40	chr7:5463861-5463901	GM12878	blood:	n/a	n/a
48	BRCA1	chr7:5461413-5461957	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr7:5462216-5462280	HepG2	liver:	n/a	n/a
50	BRCA1	chr7:5463663-5463863	HepG2	liver:	n/a	n/a

(count:2446 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5463750-5463800	SKMC	muscle:	n/a
2	chr7:5463284-5463334	HL-60	blood:	n/a
3	chr7:5465619-5465669	BE2_C	brain:	n/a
4	chr7:5461417-5461467	IMR90	lung:	fetal
5	chr7:5459428-5459478	HCF	heart:	n/a
6	chr7:5464807-5464857	NH-A	brain:	n/a
7	chr7:5463750-5463800	SKMC	muscle:	n/a
8	chr7:5463284-5463334	HL-60	blood:	n/a
9	chr7:5465619-5465669	BE2_C	brain:	n/a
10	chr7:5461417-5461467	IMR90	lung:	fetal
11	chr7:5459428-5459478	HCF	heart:	n/a
12	chr7:5464807-5464857	NH-A	brain:	n/a
13	chr7:5462185-5462235	RPTEC	kidney:	n/a
14	chr7:5461417-5461467	HCT-116	colon:	n/a
15	chr7:5463348-5463398	ovcar-3	ovarian:	n/a
16	chr7:5463375-5463425	ECC-1	luminal epithelium:	n/a
17	chr7:5462667-5462717	IMR90	lung:	fetal
18	chr7:5459428-5459478	GM06990	blood:	n/a
19	chr7:5466405-5466455	IMR90	lung:	fetal
20	chr7:5459428-5459478	BE2_C	brain:	n/a
21	chr7:5464875-5464925	U87	brain:	n/a
22	chr7:5463409-5463459	NT2-D1	testis:	n/a
23	chr7:5465465-5465515	GM12892	blood:	n/a
24	chr7:5464594-5464644	GM12892	blood:	n/a
25	chr7:5458719-5458769	BE2_C	brain:	n/a
26	chr7:5465465-5465515	ovcar-3	ovarian:	n/a
27	chr7:5461417-5461467	Caco-2	colon:	n/a
28	chr7:5461417-5461467	NH-A	brain:	n/a
29	chr7:5468197-5468247	AG09309	skin:	n/a
30	chr7:5464498-5464548	K562	blood:	n/a
31	chr7:5459645-5459695	U87	brain:	n/a
32	chr7:5463375-5463425	MCF-7	breast:	n/a
33	chr7:5459645-5459695	HRCEpiC	kidney:	n/a
34	chr7:5468436-5468486	Jurkat	blood:	n/a
35	chr7:5463456-5463506	HEEpiC	esophagus:	n/a
36	chr7:5462667-5462717	Caco-2	colon:	n/a
37	chr7:5461417-5461467	NB4	blood:	n/a
38	chr7:5463284-5463334	GM12878	blood:	n/a
39	chr7:5465465-5465515	GM12878	blood:	n/a
40	chr7:5461417-5461467	SAEC	small airway:	n/a
41	chr7:5468436-5468486	ProgFib	skin:	n/a
42	chr7:5462104-5462154	HAEpiC	amniotic membrane:	n/a
43	chr7:5462602-5462652	BJ	skin:	n/a
44	chr7:5462104-5462154	HRPEpiC	eye:	n/a
45	chr7:5459420-5459470	SK-N-MC	brain:	n/a
46	chr7:5463140-5463190	HRPEpiC	eye:	n/a
47	chr7:5460916-5460966	U87	brain:	n/a
48	chr7:5463911-5463961	GM12891	blood:	n/a
49	chr7:5461852-5461902	HPAEpiC	pulmonary alveolar:	n/a
50	chr7:5459428-5459478	MCF-7	breast:	n/a

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:5464575..5468127-chr7:5593379..5596799,6	K562	blood:
2	chr20:55203737..55206504-chr7:5465967..5468627,2	MCF-7	breast:
3	chr7:5466013..5468049-chr7:5554659..5556329,2	MCF-7	breast:
4	chr7:5405158..5408659-chr7:5455520..5459271,4	MCF-7	breast:
5	chr7:5460438..5462516-chr7:5632091..5633708,2	MCF-7	breast:
6	chr7:5467744..5470492-chr7:5602322..5603913,2	MCF-7	breast:
7	chr7:5465482..5467576-chr7:5631316..5633642,2	MCF-7	breast:
8	chr20:46130649..46132818-chr7:5462034..5464384,2	MCF-7	breast:
9	chr7:5399888..5401937-chr7:5461333..5463414,2	MCF-7	breast:
10	chr7:5464152..5466960-chr7:5862123..5864390,2	MCF-7	breast:
11	chr7:5463546..5466372-chr7:5594694..5597201,2	K562	blood:
12	chr6:107436361..107437879-chr7:5465485..5467433,3	MCF-7	breast:
13	chr7:5467171..5469404-chr7:5523572..5525265,2	K562	blood:
14	chr7:5462618..5467567-chr7:5523481..5529256,8	MCF-7	breast:
15	chr7:5467671..5469912-chr7:5631901..5634167,2	MCF-7	breast:
16	chr20:25604381..25605985-chr7:5466563..5468176,2	MCF-7	breast:
17	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
18	chr7:5405741..5406385-chr7:5458033..5458970,4	MCF-7	breast:
19	chr7:5465034..5467630-chr7:5551436..5554581,3	MCF-7	breast:
20	chr7:5458325..5461852-chr7:5568883..5572530,6	MCF-7	breast:
21	chr7:5458614..5460773-chr7:5569317..5571189,3	K562	blood:
22	chr7:5465223..5465762-chr9:34611572..34612208,2	MCF-7	breast:
23	chr7:5392552..5394323-chr7:5466285..5467849,2	MCF-7	breast:
24	chr7:5402886..5404515-chr7:5460414..5462815,2	MCF-7	breast:
25	chr7:5459451..5462326-chr7:5602186..5603926,2	MCF-7	breast:
26	chr7:5398333..5402511-chr7:5462239..5467709,7	MCF-7	breast:
27	chr7:5463794..5465765-chr7:5601700..5603411,2	MCF-7	breast:
28	chr7:5322825..5325040-chr7:5465542..5468255,2	K562	blood:
29	chr7:5460499..5462743-chr7:5492822..5495371,2	K562	blood:
30	chr7:5464910..5469932-chr7:5594160..5600416,10	MCF-7	breast:
31	chr7:5466921..5470347-chr7:5568763..5571838,5	K562	blood:
32	chr20:2632623..2634582-chr7:5461958..5464566,2	MCF-7	breast:
33	chr7:5458987..5464555-chr7:5593156..5597256,5	K562	blood:
34	chr17:59475645..59478788-chr7:5462326..5465715,3	MCF-7	breast:
35	chr7:5414075..5415824-chr7:5461011..5462716,2	MCF-7	breast:
36	chr7:5466463..5467973-chr7:5594721..5596948,2	K562	blood:
37	chr7:5462099..5465141-chr7:5569968..5573480,4	MCF-7	breast:
38	chr7:5465712..5467732-chr7:5504589..5506274,2	MCF-7	breast:
39	chr10:8091644..8094072-chr7:5464948..5466478,2	MCF-7	breast:
40	chr7:5456513..5458866-chr7:5593273..5595987,2	MCF-7	breast:
41	chr7:5466049..5468671-chr7:5522625..5525265,2	K562	blood:
42	chr7:5463649..5470093-chr7:5593803..5597245,7	MCF-7	breast:
43	chr7:5463696..5465739-chr7:5552697..5554911,2	K562	blood:
44	chr14:75745452..75746379-chr7:5465498..5466164,2	Hela-S3	cervix:
45	chr7:5384242..5385822-chr7:5466049..5467848,2	MCF-7	breast:
46	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
47	chr21:46235125..46235625-chr7:5466049..5466804,3	HCT-116	colon:
48	chr7:5458255..5459132-chr7:5468021..5469070,3	MCF-7	breast:
49	chr7:5412818..5415236-chr7:5460395..5461956,2	MCF-7	breast:
50	chr7:5462317..5470347-chr7:5568581..5572906,13	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBXL18-1	chr7:5467807-5468558	NONHSAT118917
2	lnc-SLC29A4-5	chr7:5465401-5466032	ENSG00000272953.1
3	lnc-SLC29A4-5	chr7:5468362-5469303	ENSG00000273084.1
4	lnc-SLC29A4-1	chr7:5459967-5460398	ENSG00000241269.1
5	lnc-SLC29A4-1	chr7:5459458-5459608	ENSG00000241269.1
6	lnc-SLC29A4-1	chr7:5459477-5459899	ENSG00000188365.3
7	lnc-SLC29A4-5	chr7:5465047-5470893	NONHSAT118916
8	lnc-FBXL18-1	chr7:5465908-5468558	ENSG00000234432.3
9	lnc-SLC29A4-1	chr7:5462424-5462753	ENSG00000188365.3
10	lnc-FBXL18-1	chr7:5465916-5468558	ENSG00000234432.3

No data

Variant related genes	Relation type
ENSG00000241269	TF binding region
TNRC18	TF binding region
ENSG00000272953	TF binding region
ENSG00000234432	TF binding region
ENSG00000188365	TF binding region
ENSG00000273084	TF binding region
ENSG00000241269	CpG island
TNRC18	CpG island
ENSG00000272953	CpG island
ENSG00000234432	CpG island
ENSG00000188365	CpG island
ENSG00000273084	CpG island
ENSG00000155034	chromatin interactions
ENSG00000234432	chromatin interactions
ENSG00000235944	chromatin interactions
ENSG00000101361	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000124151	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000232638	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000272719	chromatin interactions
ENSG00000263900	chromatin interactions
ENSG00000170191	chromatin interactions
ENSG00000229117	chromatin interactions
ENSG00000221062	chromatin interactions
ENSG00000087510	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000178409	chromatin interactions
ENSG00000164967	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000170345	chromatin interactions
ENSG00000213742	chromatin interactions
ENSG00000273084	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000228974	chromatin interactions
ENSG00000238394	chromatin interactions

Extended variants
information (count: 430 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185398598	chr7:5458684-5458685	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs529668342	chr7:5458704-5458705	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs548255761	chr7:5458735-5458736	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs560387481	chr7:5458740-5458741	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs527623888	chr7:5458741-5458742	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs145659977	chr7:5458743-5458744	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs372752209	chr7:5458759-5458760	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs190246852	chr7:5458811-5458812	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs570525808	chr7:5458826-5458827	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs148821278	chr7:5458874-5458875	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs181713293	chr7:5458876-5458877	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs568216896	chr7:5458882-5458883	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs564104961	chr7:5458885-5458886	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs144014072	chr7:5458918-5458919	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs373498959	chr7:5458941-5458942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs531322940	chr7:5458949-5458950	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs572680210	chr7:5458953-5458954	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs186724111	chr7:5458999-5459000	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs373897460	chr7:5459004-5459005	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs568201931	chr7:5459023-5459024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs576670326	chr7:5459050-5459051	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs544034277	chr7:5459062-5459063	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs562568901	chr7:5459065-5459066	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs574626135	chr7:5459119-5459120	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs541831457	chr7:5459123-5459124	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs559921388	chr7:5459125-5459126	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs527302902	chr7:5459146-5459147	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs189510506	chr7:5459170-5459171	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs555421614	chr7:5459184-5459185	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs10711925	chr7:5459185-5459186	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs180946623	chr7:5459186-5459187	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs368053705	chr7:5459288-5459289	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs543785254	chr7:5459289-5459290	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs564414268	chr7:5459294-5459295	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs531356525	chr7:5459311-5459312	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs185167251	chr7:5459313-5459314	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs370431761	chr7:5459329-5459330	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs55876753	chr7:5459373-5459374	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs529378159	chr7:5459429-5459430	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs373828749	chr7:5459468-5459469	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs547894743	chr7:5459474-5459475	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs547592512	chr7:5459483-5459484	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
43	rs565904610	chr7:5459495-5459496	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
44	rs565715024	chr7:5459500-5459501	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs116277288	chr7:5459519-5459520	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs115559650	chr7:5459542-5459543	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs570410427	chr7:5459586-5459587	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs537633316	chr7:5459600-5459601	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs556030921	chr7:5459608-5459609	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
50	rs189585037	chr7:5459609-5459610	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Glioblastoma multiforme	21525872	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5456800-5458800	Enhancers	Fetal Heart	heart
2	chr7:5457000-5459000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:5457000-5459400	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:5457200-5458800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:5457200-5458800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:5457200-5458800	Flanking Active TSS	NHDF-Ad	bronchial
8	chr7:5457200-5459200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr7:5457200-5459400	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
11	chr7:5457400-5458800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:5457400-5459400	Flanking Active TSS	A549	lung
13	chr7:5457600-5458800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:5457600-5458800	Flanking Active TSS	Colon Smooth Muscle	Colon
15	chr7:5457600-5461000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:5457800-5458800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:5457800-5458800	Bivalent Enhancer	Primary B cells from cord blood	blood
18	chr7:5457800-5458800	Flanking Active TSS	Fetal Brain Male	brain
19	chr7:5457800-5458800	Flanking Active TSS	Stomach Mucosa	stomach
20	chr7:5457800-5459000	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr7:5457800-5459200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr7:5457800-5459200	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr7:5457800-5459200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:5457800-5459600	Flanking Active TSS	Hela-S3	cervix
25	chr7:5457800-5459800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:5457800-5461400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:5458000-5458800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:5458000-5458800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr7:5458000-5459000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr7:5458000-5459000	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr7:5458000-5459000	Flanking Active TSS	Ovary	ovary
32	chr7:5458000-5459000	Flanking Active TSS	HSMM	muscle
33	chr7:5458000-5459000	Flanking Active TSS	K562	blood
34	chr7:5458000-5459200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
35	chr7:5458000-5459200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr7:5458000-5459200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:5458000-5459200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr7:5458000-5459200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:5458000-5459200	Flanking Active TSS	Colonic Mucosa	Colon
40	chr7:5458000-5459200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
41	chr7:5458000-5459200	Flanking Active TSS	Pancreas	Pancrea
42	chr7:5458000-5459200	Flanking Active TSS	HUVEC	blood vessel
43	chr7:5458000-5459200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr7:5458000-5459200	Flanking Active TSS	NHEK	skin
45	chr7:5458000-5459200	Flanking Active TSS	Osteobl	bone
46	chr7:5458000-5459400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:5458000-5459400	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr7:5458000-5459400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr7:5458000-5459400	Flanking Active TSS	NH-A	brain
50	chr7:5458000-5460200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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