Variant report

Variant	nsv824091
Chromosome Location	chr7:50828682-50885984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1319)
CpG islands
(count:2504)
Chromatin interactive
region (count:52)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:50859975-50860318	K562	blood:	n/a	n/a
2	ARID3A	chr7:50845893-50846183	HepG2	liver:	n/a	n/a
3	ATF1	chr7:50880572-50880904	K562	blood:	n/a	n/a
4	ATF2	chr7:50860072-50860358	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr7:50859969-50860342	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr7:50859958-50860389	K562	blood:	n/a	n/a
7	BACH1	chr7:50860949-50860952	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:50861491-50861539	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:50859645-50860144	K562	blood:	n/a	n/a
10	BACH1	chr7:50879936-50880164	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr7:50859647-50860274	H1-hESC	embryonic stem cell:	n/a	n/a
12	BHLHE40	chr7:50859279-50859414	K562	blood:	n/a	n/a
13	BHLHE40	chr7:50868521-50868835	K562	blood:	n/a	chr7:50868687-50868700 chr7:50868690-50868699
14	BHLHE40	chr7:50880675-50880737	K562	blood:	n/a	n/a
15	BHLHE40	chr7:50859750-50860055	HepG2	liver:	n/a	n/a
16	BHLHE40	chr7:50859682-50860388	K562	blood:	n/a	n/a
17	BHLHE40	chr7:50861444-50861466	K562	blood:	n/a	n/a
18	BRCA1	chr7:50843503-50843896	Hela-S3	cervix:	n/a	n/a
19	BRCA1	chr7:50859468-50860415	Hela-S3	cervix:	n/a	chr7:50860336-50860343
20	CBX3	chr7:50859993-50860375	K562	blood:	n/a	n/a
21	CCNT2	chr7:50860044-50861550	K562	blood:	n/a	chr7:50861156-50861165
22	CCNT2	chr7:50843573-50843630	K562	blood:	n/a	n/a
23	CEBPB	chr7:50866285-50866429	A549	lung:	n/a	n/a
24	CEBPB	chr7:50859660-50860050	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
25	CEBPB	chr7:50845851-50846199	HepG2	liver:	n/a	chr7:50846101-50846109
26	CEBPB	chr7:50871106-50871326	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr7:50859697-50860386	A549	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
28	CEBPB	chr7:50859613-50860414	ECC-1	luminal epithelium:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
29	CEBPB	chr7:50865247-50865282	HepG2	liver:	n/a	chr7:50865271-50865282
30	CEBPB	chr7:50835490-50835682	HepG2	liver:	n/a	chr7:50835541-50835552
31	CEBPB	chr7:50832314-50832588	A549	lung:	n/a	chr7:50832429-50832440
32	CEBPB	chr7:50860080-50860338	K562	blood:	n/a	n/a
33	CEBPB	chr7:50865368-50865376	K562	blood:	n/a	n/a
34	CEBPB	chr7:50859660-50860370	A549	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
35	CEBPB	chr7:50859655-50860309	ECC-1	luminal epithelium:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
36	CEBPB	chr7:50832300-50832577	HepG2	liver:	n/a	chr7:50832429-50832440
37	CEBPB	chr7:50859783-50860002	K562	blood:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
38	CEBPB	chr7:50863009-50863243	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr7:50859770-50859993	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
40	CEBPB	chr7:50859547-50860431	K562	blood:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
41	CEBPB	chr7:50859700-50860375	H1-hESC	embryonic stem cell:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
42	CEBPB	chr7:50859644-50860396	MCF-7	breast:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
43	CEBPB	chr7:50859572-50860416	MCF-7	breast:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
44	CEBPB	chr7:50859234-50861061	Hela-S3	cervix:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
45	CEBPB	chr7:50859687-50860360	HepG2	liver:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
46	CEBPB	chr7:50835502-50835610	Hela-S3	cervix:	n/a	chr7:50835541-50835552
47	CEBPB	chr7:50859688-50860410	IMR90	lung:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
48	CEBPB	chr7:50859582-50860421	K562	blood:	n/a	chr7:50859880-50859891 chr7:50859880-50859893 chr7:50859882-50859891 chr7:50859881-50859892
49	CEBPB	chr7:50863043-50863284	MCF-7	breast:	n/a	n/a
50	CEBPB	chr7:50845862-50846132	A549	lung:	n/a	chr7:50846101-50846109

(count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:50861602-50861652	T-47D	breast:	n/a
2	chr7:50861549-50861599	HEEpiC	esophagus:	n/a
3	chr7:50861472-50861522	Hela-S3	cervix:	n/a
4	chr7:50861602-50861652	T-47D	breast:	n/a
5	chr7:50861549-50861599	HEEpiC	esophagus:	n/a
6	chr7:50861472-50861522	Hela-S3	cervix:	n/a
7	chr7:50861927-50861977	GM12891	blood:	n/a
8	chr7:50863804-50863854	SKMC	muscle:	n/a
9	chr7:50849285-50849335	LNCaP	prostate:	n/a
10	chr7:50853341-50853391	H1-hESC	embryonic stem cell:	embryo
11	chr7:50861750-50861800	MCF10A-Er-Src	breast:	n/a
12	chr7:50861739-50861789	SK-N-SH_RA	brain:	n/a
13	chr7:50862155-50862205	U87	brain:	n/a
14	chr7:50861418-50861468	HRPEpiC	eye:	n/a
15	chr7:50861549-50861599	ECC-1	luminal epithelium:	n/a
16	chr7:50857635-50857685	PFSK-1	brain:	n/a
17	chr7:50860564-50860614	H1-hESC	embryonic stem cell:	embryo
18	chr7:50861487-50861537	CMK	blood:	n/a
19	chr7:50861750-50861800	GM12891	blood:	n/a
20	chr7:50863804-50863854	NT2-D1	testis:	n/a
21	chr7:50862035-50862085	AG10803	skin:	n/a
22	chr7:50861967-50862017	GM06990	blood:	n/a
23	chr7:50857635-50857685	NB4	blood:	n/a
24	chr7:50862155-50862205	MCF10A-Er-Src	breast:	n/a
25	chr7:50861927-50861977	BE2_C	brain:	n/a
26	chr7:50861472-50861522	HMEC	breast:	n/a
27	chr7:50862043-50862093	CMK	blood:	n/a
28	chr7:50861607-50861657	U87	brain:	n/a
29	chr7:50860564-50860614	HEK293	kidney:	embryo
30	chr7:50861750-50861800	HRPEpiC	eye:	n/a
31	chr7:50861654-50861704	HNPCEpiC	eye:	n/a
32	chr7:50861967-50862017	PFSK-1	brain:	n/a
33	chr7:50861487-50861537	RPTEC	kidney:	n/a
34	chr7:50850564-50850614	HCM	heart:	n/a
35	chr7:50861739-50861789	IMR90	lung:	fetal
36	chr7:50860173-50860223	Jurkat	blood:	n/a
37	chr7:50861535-50861585	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:50860564-50860614	AG04450	lung:	fetal
39	chr7:50862043-50862093	U87	brain:	n/a
40	chr7:50862035-50862085	NHDF-neo	bronchial:	n/a
41	chr7:50850564-50850614	Hepatocyte	liver:	n/a
42	chr7:50862155-50862205	HUVEC	blood vessel:	n/a
43	chr7:50861834-50861884	NHDF-neo	bronchial:	n/a
44	chr7:50857635-50857685	GM19239	blood:	n/a
45	chr7:50861418-50861468	HCF	heart:	n/a
46	chr7:50861602-50861652	SAEC	small airway:	n/a
47	chr7:50861607-50861657	RPTEC	kidney:	n/a
48	chr7:50849415-50849465	MCF10A-Er-Src	breast:	n/a
49	chr7:50861535-50861585	SAEC	small airway:	n/a
50	chr7:50847263-50847313	HCM	heart:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:50861965..50863121-chr7:51049318..51050307,3	MCF-7	breast:
2	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
3	chr7:50869664..50871452-chr7:50874816..50876730,2	K562	blood:
4	chr7:50672342..50675062-chr7:50858858..50861329,2	K562	blood:
5	chr7:50822915..50825463-chr7:50831567..50833074,2	K562	blood:
6	chr7:50823624..50825816-chr7:50859906..50861742,2	K562	blood:
7	chr7:50864527..50866191-chr7:50870098..50872928,2	K562	blood:
8	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:
9	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:
10	chr7:50821713..50823386-chr7:50826652..50828683,2	MCF-7	breast:
11	chr7:50864527..50866191-chr7:50870098..50872928,2	K562	blood:
12	chr1:165797659..165798365-chr7:50859677..50860628,2	Hela-S3	cervix:
13	chr7:50871845..50874817-chr7:50875745..50879437,4	K562	blood:
14	chr7:50825624..50829260-chr7:50829688..50833624,4	K562	blood:
15	chr7:50833742..50835575-chr7:50837710..50840000,2	K562	blood:
16	chr7:50820026..50825124-chr7:50858182..50862797,5	K562	blood:
17	chr7:50861450..50863557-chr7:50891977..50893899,2	MCF-7	breast:
18	chr7:50763398..50765594-chr7:50855405..50857428,2	K562	blood:
19	chr5:159848892..159849860-chr7:50860666..50861462,2	NB4	blood:
20	chr7:50844048..50846165-chr7:50848295..50849951,2	MCF-7	breast:
21	chr7:50871147..50873341-chr7:50874686..50876829,2	K562	blood:
22	chr7:50829955..50831834-chr7:50857481..50859941,2	K562	blood:
23	chr7:50814324..50816744-chr7:50859392..50862105,3	K562	blood:
24	chr7:50834041..50837996-chr7:50859148..50861834,4	K562	blood:
25	chr7:50829955..50831834-chr7:50857481..50859941,2	K562	blood:
26	chr7:50825624..50829260-chr7:50829688..50833624,4	K562	blood:
27	chr7:50824568..50827324-chr7:50838039..50840736,2	K562	blood:
28	chr7:50826494..50829462-chr7:50851162..50853620,2	K562	blood:
29	chr7:50833022..50835680-chr7:50836997..50839885,2	K562	blood:
30	chr7:50875562..50877095-chr7:50877461..50880211,2	K562	blood:
31	chr7:50425673..50428002-chr7:50857921..50860124,2	K562	blood:
32	chr7:50826033..50828575-chr7:50862954..50865716,2	K562	blood:
33	chr7:50831271..50832774-chr7:50836128..50838044,2	K562	blood:
34	chr7:50875562..50877095-chr7:50877461..50880211,2	K562	blood:
35	chr7:50831271..50832774-chr7:50836128..50838044,2	K562	blood:
36	chr7:50855414..50858546-chr7:50859457..50861249,3	MCF-7	breast:
37	chr7:50857865..50859927-chr7:50902975..50905675,2	K562	blood:
38	chr7:50871147..50873341-chr7:50874686..50876829,2	K562	blood:
39	chr7:50872247..50874643-chr7:50886564..50888421,2	K562	blood:
40	chr7:50826494..50829462-chr7:50851162..50853620,2	K562	blood:
41	chr7:50863097..50863770-chr7:51135545..51136174,2	MCF-7	breast:
42	chr7:50884623..50886441-chr7:50889136..50890679,2	K562	blood:
43	chr7:50799534..50801547-chr7:50859929..50861719,2	K562	blood:
44	chr7:50869664..50871452-chr7:50874816..50876730,2	K562	blood:
45	chr7:50859210..50863634-chr7:50868604..50872956,5	K562	blood:
46	chr7:50871845..50874817-chr7:50875745..50879437,4	K562	blood:
47	chr7:50859012..50860567-chr7:50873879..50876072,2	K562	blood:
48	chr7:50871702..50877062-chr7:50877146..50881171,7	K562	blood:
49	chr7:50833742..50835575-chr7:50837710..50840000,2	K562	blood:
50	chr7:50835924..50838616-chr7:50888475..50890860,2	K562	blood:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DDC-3	chr7:50847154-50847288	NONHSAT120574
2	lnc-DDC-3	chr7:50847206-50847267	NONHSAT120573
3	lnc-DDC-3	chr7:50849114-50849168	NONHSAT120574
4	lnc-DDC-3	chr7:50848718-50848826	NONHSAT120574
5	lnc-DDC-3	chr7:50848718-50849127	NONHSAT120576
6	lnc-DDC-3	chr7:50847441-50847472	NONHSAT120574
7	lnc-DDC-3	chr7:50848923-50849005	NONHSAT120574
8	lnc-DDC-3	chr7:50848324-50848433	NONHSAT120576
9	lnc-DDC-3	chr7:50847415-50847472	NONHSAT120576
10	lnc-DDC-3	chr7:50846832-50846859	NONHSAT120573
11	lnc-DDC-3	chr7:50848790-50849123	NONHSAT120575
12	lnc-DDC-3	chr7:50848324-50848433	NONHSAT120574
13	lnc-DDC-3	chr7:50848928-50849098	NONHSAT120572
14	lnc-DDC-3	chr7:50829355-50829711	NONHSAT120573
15	lnc-DDC-3	chr7:50847318-50847472	NONHSAT120575
16	lnc-DDC-3	chr7:50848324-50848433	NONHSAT120575
17	lnc-DDC-3	chr7:50848718-50848826	NONHSAT120572
18	lnc-DDC-3	chr7:50847206-50847288	NONHSAT120572
19	lnc-DDC-3	chr7:50846832-50846874	NONHSAT120572
20	lnc-IKZF1-9	chr7:50850753-50853616	NONHSAT120577

No data

Variant related genes	Relation type
GRB10	TF binding region
GRB10	CpG island
ENSG00000164611	chromatin interactions
ENSG00000106070	chromatin interactions

Extended variants
information (count: 2177 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:2177 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544264914	chr7:50828691-50828692	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs564180001	chr7:50828790-50828791	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533248661	chr7:50828808-50828809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546641450	chr7:50828832-50828833	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560220940	chr7:50828833-50828834	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142278904	chr7:50828851-50828852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146071997	chr7:50828867-50828868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186368524	chr7:50828893-50828894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191856395	chr7:50828907-50828908	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76886379	chr7:50828916-50828917	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368763924	chr7:50828967-50828968	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548884120	chr7:50828977-50828978	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs571879058	chr7:50829030-50829031	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553864466	chr7:50829070-50829071	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182021404	chr7:50829095-50829096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567426292	chr7:50829109-50829110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34798619	chr7:50829153-50829154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536032443	chr7:50829215-50829216	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553842005	chr7:50829298-50829299	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572028917	chr7:50829317-50829318	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367694320	chr7:50829348-50829349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6969838	chr7:50829352-50829353	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs373093450	chr7:50829410-50829411	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544947233	chr7:50829440-50829441	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs564837954	chr7:50829457-50829458	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs577573010	chr7:50829514-50829515	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs540246786	chr7:50829520-50829521	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs374170750	chr7:50829580-50829581	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs560182641	chr7:50829637-50829638	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs537660860	chr7:50829682-50829683	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs549298287	chr7:50829695-50829696	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs563140903	chr7:50829696-50829697	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs186551443	chr7:50829716-50829717	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs6951356	chr7:50829767-50829768	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs138919285	chr7:50829784-50829785	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141383170	chr7:50829806-50829807	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191792869	chr7:50829839-50829840	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182791479	chr7:50829859-50829860	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187073498	chr7:50829870-50829871	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143541013	chr7:50829877-50829878	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569784018	chr7:50829882-50829883	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538634601	chr7:50829915-50829916	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10281065	chr7:50829973-50829974	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs558394282	chr7:50830083-50830084	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375598265	chr7:50830084-50830085	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572027358	chr7:50830121-50830122	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189933312	chr7:50830125-50830126	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs80059693	chr7:50830162-50830163	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78335858	chr7:50830170-50830171	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148017357	chr7:50830205-50830206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2113 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50798800-50832400	Weak transcription	HSMM	muscle
2	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
3	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
5	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:50810800-50829600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:50811000-50829400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr7:50812600-50829400	Weak transcription	NHDF-Ad	bronchial
12	chr7:50814400-50838800	Weak transcription	Adipose Nuclei	Adipose
13	chr7:50815000-50834400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:50816000-50834200	Weak transcription	A549	lung
15	chr7:50816200-50829400	Weak transcription	Aorta	Aorta
16	chr7:50816200-50831400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr7:50816200-50834000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:50816200-50849600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:50816800-50833800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:50819400-50831800	Weak transcription	Brain Hippocampus Middle	brain
21	chr7:50819600-50833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:50820200-50843000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr7:50822000-50849800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:50822200-50832200	Weak transcription	Fetal Muscle Trunk	muscle
25	chr7:50822200-50835000	Weak transcription	Esophagus	oesophagus
26	chr7:50822400-50834200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:50822600-50829200	Weak transcription	Osteobl	bone
28	chr7:50822600-50831600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:50822800-50833800	Weak transcription	Hela-S3	cervix
30	chr7:50822800-50850200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr7:50823000-50832200	Weak transcription	Brain Germinal Matrix	brain
32	chr7:50823200-50834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:50823400-50832400	Weak transcription	Fetal Brain Female	brain
34	chr7:50823600-50829200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:50823600-50829400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:50823600-50830000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:50823600-50834800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:50823600-50834800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:50823600-50849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:50823600-50849200	Weak transcription	Fetal Lung	lung
41	chr7:50823800-50829000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:50823800-50831800	Weak transcription	Fetal Stomach	stomach
43	chr7:50823800-50834600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:50824200-50831200	Weak transcription	Spleen	Spleen
45	chr7:50824400-50834800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:50824400-50843200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:50824600-50831200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr7:50824800-50836400	Weak transcription	NH-A	brain
49	chr7:50825000-50829400	Weak transcription	Left Ventricle	heart
50	chr7:50825000-50832200	Weak transcription	Brain Substantia Nigra	brain

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