Variant report

Variant	nsv823997
Chromosome Location	chr7:5457916-5463961
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1309)
CpG islands
(count:1649)
Chromatin interactive
region (count:29)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1309 , 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	chr7:5458368-5458539	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:5461400-5461795	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:5463209-5465855	HepG2	liver:	n/a	chr7:5463349-5463365 chr7:5464990-5465006 chr7:5464989-5465005
4	ARID3A	chr7:5461514-5461820	K562	blood:	n/a	n/a
5	ARID3A	chr7:5463524-5464106	K562	blood:	n/a	n/a
6	ATF1	chr7:5463562-5463898	K562	blood:	n/a	n/a
7	ATF2	chr7:5458219-5458881	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr7:5463571-5463832	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr7:5458315-5458631	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr7:5463385-5463388	K562	blood:	n/a	n/a
11	BACH1	chr7:5461491-5462023	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr7:5463610-5463724	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr7:5461620-5461693	K562	blood:	n/a	n/a
14	BCL3	chr7:5461634-5462217	A549	lung:	n/a	chr7:5461839-5461848
15	BCL3	chr7:5461327-5462330	A549	lung:	n/a	chr7:5461839-5461848
16	BCL3	chr7:5458034-5459081	A549	lung:	n/a	n/a
17	BHLHE40	chr7:5462614-5462696	K562	blood:	n/a	n/a
18	BHLHE40	chr7:5458291-5458835	HepG2	liver:	n/a	n/a
19	BHLHE40	chr7:5463861-5463901	GM12878	blood:	n/a	n/a
20	BHLHE40	chr7:5458837-5458907	K562	blood:	n/a	n/a
21	BHLHE40	chr7:5458243-5458563	K562	blood:	n/a	n/a
22	BHLHE40	chr7:5463586-5463907	K562	blood:	n/a	n/a
23	BHLHE40	chr7:5463575-5464347	HepG2	liver:	n/a	n/a
24	BHLHE40	chr7:5460374-5460410	GM12878	blood:	n/a	n/a
25	BRCA1	chr7:5463663-5463863	HepG2	liver:	n/a	n/a
26	BRCA1	chr7:5462216-5462280	HepG2	liver:	n/a	n/a
27	BRCA1	chr7:5463335-5463896	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr7:5460360-5460378	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr7:5458335-5458505	H1-hESC	embryonic stem cell:	n/a	n/a
30	BRCA1	chr7:5461413-5461957	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr7:5457914-5458911	Hela-S3	cervix:	n/a	n/a
32	CBX3	chr7:5463536-5464023	K562	blood:	n/a	n/a
33	CCNT2	chr7:5462110-5462301	K562	blood:	n/a	n/a
34	CCNT2	chr7:5460596-5461563	K562	blood:	n/a	n/a
35	CCNT2	chr7:5462586-5464759	K562	blood:	n/a	chr7:5462887-5462896 chr7:5463507-5463516 chr7:5463513-5463522 chr7:5464016-5464025 chr7:5462844-5462853
36	CCNT2	chr7:5459561-5459877	K562	blood:	n/a	n/a
37	CCNT2	chr7:5458170-5458311	K562	blood:	n/a	n/a
38	CCNT2	chr7:5458516-5458755	K562	blood:	n/a	chr7:5458562-5458571
39	CEBPB	chr7:5458310-5458917	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr7:5463188-5463827	MCF-7	breast:	n/a	chr7:5463425-5463438
41	CEBPB	chr7:5463232-5464064	Hela-S3	cervix:	n/a	chr7:5463425-5463438
42	CEBPB	chr7:5463219-5463999	K562	blood:	n/a	chr7:5463425-5463438
43	CEBPB	chr7:5463244-5463605	K562	blood:	n/a	chr7:5463425-5463438
44	CEBPB	chr7:5463142-5463719	MCF-7	breast:	n/a	chr7:5463425-5463438
45	CEBPB	chr7:5458060-5458932	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr7:5463287-5463609	A549	lung:	n/a	chr7:5463425-5463438
47	CEBPB	chr7:5461811-5461912	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr7:5458213-5458524	IMR90	lung:	n/a	n/a
49	CEBPB	chr7:5463273-5463611	ECC-1	luminal epithelium:	n/a	chr7:5463425-5463438
50	CEBPB	chr7:5463241-5463590	A549	lung:	n/a	chr7:5463425-5463438

(count:1649 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5463911-5463961	HepG2	liver:	n/a
2	chr7:5458901-5458951	NT2-D1	testis:	n/a
3	chr7:5463911-5463961	HepG2	liver:	n/a
4	chr7:5458901-5458951	NT2-D1	testis:	n/a
5	chr7:5460916-5460966	HL-60	blood:	n/a
6	chr7:5463336-5463386	NHBE	bronchial:	n/a
7	chr7:5459428-5459478	CMK	blood:	n/a
8	chr7:5462185-5462235	HEK293	kidney:	embryo
9	chr7:5462104-5462154	HCT-116	colon:	n/a
10	chr7:5460916-5460966	HRCEpiC	kidney:	n/a
11	chr7:5462185-5462235	AoSMC	blood vessel:	n/a
12	chr7:5462667-5462717	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:5460916-5460966	BE2_C	brain:	n/a
14	chr7:5458719-5458769	A549	lung:	n/a
15	chr7:5460916-5460966	SK-N-MC	brain:	n/a
16	chr7:5463750-5463800	HepG2	liver:	n/a
17	chr7:5463750-5463800	BE2_C	brain:	n/a
18	chr7:5462185-5462235	NB4	blood:	n/a
19	chr7:5459645-5459695	Caco-2	colon:	n/a
20	chr7:5462667-5462717	SK-N-MC	brain:	n/a
21	chr7:5463750-5463800	Caco-2	colon:	n/a
22	chr7:5463911-5463961	AG09319	gingival:	n/a
23	chr7:5460916-5460966	AG09319	gingival:	n/a
24	chr7:5463284-5463334	Hela-S3	cervix:	n/a
25	chr7:5462771-5462821	HUVEC	blood vessel:	n/a
26	chr7:5462602-5462652	NHBE	bronchial:	n/a
27	chr7:5462667-5462717	HEK293	kidney:	embryo
28	chr7:5460496-5460546	GM12891	blood:	n/a
29	chr7:5463750-5463800	SK-N-SH_RA	brain:	n/a
30	chr7:5459420-5459470	HIPEpiC	eye:	n/a
31	chr7:5463336-5463386	HepG2	liver:	n/a
32	chr7:5461417-5461467	H1-hESC	embryonic stem cell:	embryo
33	chr7:5463140-5463190	AG09319	gingival:	n/a
34	chr7:5459645-5459695	HRE	kidney:	n/a
35	chr7:5460496-5460546	AG09319	gingival:	n/a
36	chr7:5462104-5462154	RPTEC	kidney:	n/a
37	chr7:5463409-5463459	SK-N-SH	brain:	n/a
38	chr7:5458719-5458769	H1-hESC	embryonic stem cell:	embryo
39	chr7:5463627-5463677	HRPEpiC	eye:	n/a
40	chr7:5462771-5462821	Hepatocyte	liver:	n/a
41	chr7:5463336-5463386	PANC-1	pancreas:	n/a
42	chr7:5463284-5463334	HCF	heart:	n/a
43	chr7:5461480-5461530	PrEC	prostate:	n/a
44	chr7:5461312-5461362	HCF	heart:	n/a
45	chr7:5462667-5462717	HRE	kidney:	n/a
46	chr7:5461312-5461362	SAEC	small airway:	n/a
47	chr7:5459428-5459478	HAEpiC	amniotic membrane:	n/a
48	chr7:5463284-5463334	IMR90	lung:	fetal
49	chr7:5460916-5460966	SK-N-SH	brain:	n/a
50	chr7:5458719-5458769	MCF-7	breast:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:5405741..5406385-chr7:5458033..5458970,4	MCF-7	breast:
2	chr7:5460499..5462743-chr7:5492822..5495371,2	K562	blood:
3	chr7:5458614..5460773-chr7:5569317..5571189,3	K562	blood:
4	chr7:5458325..5469295-chr7:5567159..5574053,21	MCF-7	breast:
5	chr7:5414075..5415824-chr7:5461011..5462716,2	MCF-7	breast:
6	chr7:5458987..5464555-chr7:5593156..5597256,5	K562	blood:
7	chr17:56735283..56737163-chr7:5461996..5464640,2	MCF-7	breast:
8	chr7:5463546..5466372-chr7:5594694..5597201,2	K562	blood:
9	chr7:5412818..5415236-chr7:5460395..5461956,2	MCF-7	breast:
10	chr7:5402886..5404515-chr7:5460414..5462815,2	MCF-7	breast:
11	chr7:5462317..5470347-chr7:5568581..5572906,13	K562	blood:
12	chr7:5460438..5462516-chr7:5632091..5633708,2	MCF-7	breast:
13	chr7:5463649..5470093-chr7:5593803..5597245,7	MCF-7	breast:
14	chr7:5405158..5408659-chr7:5455520..5459271,4	MCF-7	breast:
15	chr7:5463794..5465765-chr7:5601700..5603411,2	MCF-7	breast:
16	chr20:46130649..46132818-chr7:5462034..5464384,2	MCF-7	breast:
17	chr7:5462618..5467567-chr7:5523481..5529256,8	MCF-7	breast:
18	chr7:5458325..5461852-chr7:5568883..5572530,6	MCF-7	breast:
19	chr7:5456513..5458866-chr7:5593273..5595987,2	MCF-7	breast:
20	chr7:5398333..5402511-chr7:5462239..5467709,7	MCF-7	breast:
21	chr17:59475645..59478788-chr7:5462326..5465715,3	MCF-7	breast:
22	chr7:5463696..5465739-chr7:5552697..5554911,2	K562	blood:
23	chr7:5458255..5459132-chr7:5468021..5469070,3	MCF-7	breast:
24	chr7:5427419..5438627-chr7:5461902..5471481,26	MCF-7	breast:
25	chr7:5459451..5462326-chr7:5602186..5603926,2	MCF-7	breast:
26	chr7:5399888..5401937-chr7:5461333..5463414,2	MCF-7	breast:
27	chr20:2632623..2634582-chr7:5461958..5464566,2	MCF-7	breast:
28	chr7:5462099..5465141-chr7:5569968..5573480,4	MCF-7	breast:
29	chr7:5463623..5466826-chr7:5568581..5571687,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC29A4-1	chr7:5462424-5462753	ENSG00000188365.3
2	lnc-SLC29A4-1	chr7:5459458-5459608	ENSG00000241269.1
3	lnc-SLC29A4-1	chr7:5459477-5459899	ENSG00000188365.3
4	lnc-SLC29A4-1	chr7:5459967-5460398	ENSG00000241269.1

No data

Variant related genes	Relation type
ENSG00000272953	TF binding region
ENSG00000188365	TF binding region
ENSG00000241269	TF binding region
ENSG00000273084	TF binding region
TNRC18	TF binding region
ENSG00000272953	CpG island
ENSG00000188365	CpG island
ENSG00000241269	CpG island
ENSG00000273084	CpG island
TNRC18	CpG island
ENSG00000124151	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000182095	chromatin interactions
ENSG00000263900	chromatin interactions
ENSG00000272719	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000075624	chromatin interactions
ENSG00000238394	chromatin interactions
ENSG00000221062	chromatin interactions
ENSG00000234432	chromatin interactions
ENSG00000273084	chromatin interactions
ENSG00000075618	chromatin interactions
ENSG00000101361	chromatin interactions
ENSG00000155034	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000267131	chromatin interactions

Extended variants
information (count: 248 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558941386	chr7:5457983-5457984	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs371121960	chr7:5457994-5457995	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs183693762	chr7:5458007-5458008	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs76405878	chr7:5458017-5458018	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs188168147	chr7:5458068-5458069	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs538189831	chr7:5458077-5458078	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs556438058	chr7:5458163-5458164	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs139979240	chr7:5458172-5458173	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs574743480	chr7:5458203-5458204	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs548465138	chr7:5458217-5458218	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs566657721	chr7:5458258-5458259	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs145190662	chr7:5458274-5458275	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs542416709	chr7:5458295-5458296	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs34414715	chr7:5458320-5458321	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs558512199	chr7:5458341-5458342	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs150566025	chr7:5458349-5458350	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs537977446	chr7:5458373-5458374	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs556258921	chr7:5458399-5458400	Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs139607240	chr7:5458406-5458407	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs73059717	chr7:5458422-5458423	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs192561163	chr7:5458425-5458426	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs572693596	chr7:5458442-5458443	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs572125214	chr7:5458482-5458483	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs546365402	chr7:5458493-5458494	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs369263210	chr7:5458510-5458511	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs545559149	chr7:5458548-5458549	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs534041200	chr7:5458567-5458568	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs564554990	chr7:5458580-5458581	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs576601407	chr7:5458624-5458625	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
30	rs149739290	chr7:5458634-5458635	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
31	rs544292531	chr7:5458645-5458646	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
32	rs546672073	chr7:5458648-5458649	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

Variant related diseases (count:76)

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

Chromatin state (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5437600-5458400	Weak transcription	Psoas Muscle	Psoas
2	chr7:5448800-5458400	Weak transcription	Gastric	stomach
3	chr7:5453000-5458200	Weak transcription	Lung	lung
4	chr7:5453200-5458000	Weak transcription	Brain Substantia Nigra	brain
5	chr7:5453200-5458600	Weak transcription	Aorta	Aorta
6	chr7:5456400-5458000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:5456400-5458600	Enhancers	Placenta	Placenta
8	chr7:5456800-5458600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:5456800-5458800	Enhancers	Fetal Heart	heart
10	chr7:5457000-5458000	Enhancers	Adipose Nuclei	Adipose
11	chr7:5457000-5458000	Enhancers	Brain Hippocampus Middle	brain
12	chr7:5457000-5458000	Genic enhancers	Fetal Intestine Large	intestine
13	chr7:5457000-5458000	Genic enhancers	Fetal Stomach	stomach
14	chr7:5457000-5458200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:5457000-5458400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:5457000-5458400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:5457000-5458400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:5457000-5458400	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr7:5457000-5458600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:5457000-5458600	Flanking Active TSS	Fetal Brain Female	brain
21	chr7:5457000-5459000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:5457000-5459400	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr7:5457000-5461400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:5457200-5458000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:5457200-5458000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr7:5457200-5458000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:5457200-5458000	Enhancers	Ovary	ovary
28	chr7:5457200-5458000	Enhancers	Pancreas	Pancrea
29	chr7:5457200-5458000	Enhancers	NH-A	brain
30	chr7:5457200-5458200	Genic enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:5457200-5458200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr7:5457200-5458200	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:5457200-5458200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr7:5457200-5458400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:5457200-5458400	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr7:5457200-5458400	Genic enhancers	Fetal Muscle Leg	muscle
37	chr7:5457200-5458400	Enhancers	Left Ventricle	heart
38	chr7:5457200-5458400	Enhancers	HMEC	breast
39	chr7:5457200-5458600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:5457200-5458600	Enhancers	Small Intestine	intestine
41	chr7:5457200-5458800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:5457200-5458800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:5457200-5458800	Flanking Active TSS	NHDF-Ad	bronchial
44	chr7:5457200-5459200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr7:5457200-5459400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr7:5457200-5461000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
47	chr7:5457400-5458000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
48	chr7:5457400-5458000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:5457400-5458000	Enhancers	Colonic Mucosa	Colon
50	chr7:5457400-5458000	Genic enhancers	Fetal Intestine Small	intestine

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