Variant report

Variant	esv3381818
Chromosome Location	chr7:6628877-6630925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:6629468-6629712	K562	blood:	n/a	n/a
2	ARID3A	chr7:6629531-6629849	HepG2	liver:	n/a	n/a
3	ATF2	chr7:6629394-6629712	GM12878	blood:	n/a	n/a
4	ATF3	chr7:6629337-6629771	A549	lung:	n/a	chr7:6629523-6629532 chr7:6629564-6629584
5	ATF3	chr7:6629344-6630003	A549	lung:	n/a	chr7:6629523-6629532 chr7:6629564-6629584
6	BACH1	chr7:6629362-6630071	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr7:6630335-6630344	K562	blood:	n/a	n/a
8	BCL3	chr7:6629362-6630010	GM12878	blood:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629775-6629788 chr7:6629561-6629574 chr7:6629733-6629746 chr7:6629799-6629812
9	BCL3	chr7:6629789-6630335	A549	lung:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629799-6629812
10	BCLAF1	chr7:6629326-6630156	GM12878	blood:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629775-6629788 chr7:6629561-6629574 chr7:6629733-6629746 chr7:6629799-6629812
11	BCLAF1	chr7:6629293-6630019	GM12878	blood:	n/a	chr7:6629794-6629807 chr7:6629869-6629878 chr7:6629872-6629881 chr7:6629775-6629788 chr7:6629561-6629574 chr7:6629733-6629746 chr7:6629799-6629812
12	BHLHE40	chr7:6629407-6630083	K562	blood:	n/a	chr7:6629730-6629746 chr7:6629672-6629688 chr7:6629690-6629706 chr7:6629677-6629693
13	BHLHE40	chr7:6629403-6629935	GM12878	blood:	n/a	chr7:6629730-6629746 chr7:6629677-6629693 chr7:6629672-6629688 chr7:6629690-6629706
14	BHLHE40	chr7:6629402-6629797	HepG2	liver:	n/a	chr7:6629730-6629746 chr7:6629677-6629693 chr7:6629672-6629688 chr7:6629690-6629706
15	BRCA1	chr7:6629480-6629658	HepG2	liver:	n/a	n/a
16	BRCA1	chr7:6629879-6630060	HepG2	liver:	n/a	n/a
17	BRCA1	chr7:6629475-6629612	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr7:6629568-6629656	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr7:6629357-6629723	K562	blood:	n/a	n/a
20	CBX3	chr7:6629809-6630108	K562	blood:	n/a	n/a
21	CCNT2	chr7:6629366-6630311	K562	blood:	n/a	chr7:6629523-6629532
22	CEBPB	chr7:6629923-6630025	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr7:6630333-6630674	IMR90	lung:	n/a	chr7:6630525-6630536
24	CEBPB	chr7:6630406-6630680	HepG2	liver:	n/a	chr7:6630525-6630536
25	CEBPB	chr7:6630410-6630659	K562	blood:	n/a	chr7:6630525-6630536
26	CEBPB	chr7:6629424-6629741	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr7:6629301-6629823	HepG2	liver:	n/a	n/a
28	CEBPB	chr7:6630419-6630598	HepG2	liver:	n/a	chr7:6630525-6630536
29	CEBPB	chr7:6629404-6629720	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr7:6629407-6629980	HepG2	liver:	n/a	n/a
31	CEBPD	chr7:6629537-6629766	HepG2	liver:	n/a	n/a
32	CHD1	chr7:6629952-6630101	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr7:6629590-6629741	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr7:6629213-6630687	IMR90	lung:	n/a	chr7:6629561-6629571
35	CHD1	chr7:6629471-6630106	GM12878	blood:	n/a	chr7:6629561-6629571
36	CHD2	chr7:6629273-6630089	Hela-S3	cervix:	n/a	chr7:6629561-6629571
37	CHD2	chr7:6629468-6629736	HepG2	liver:	n/a	chr7:6629561-6629571
38	CHD2	chr7:6629296-6630197	GM12878	blood:	n/a	chr7:6629561-6629571
39	CHD2	chr7:6629441-6630223	K562	blood:	n/a	chr7:6629561-6629571
40	CHD2	chr7:6629242-6629948	H1-hESC	embryonic stem cell:	n/a	chr7:6629561-6629571
41	CHD2	chr7:6629961-6630110	HepG2	liver:	n/a	n/a
42	CREB1	chr7:6629426-6629854	A549	lung:	n/a	n/a
43	CREB1	chr7:6629248-6630312	HepG2	liver:	n/a	n/a
44	CREB1	chr7:6629329-6630096	A549	lung:	n/a	n/a
45	CTBP2	chr7:6629266-6630374	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr7:6629860-6630010	NB4	blood:	n/a	n/a
47	CTCF	chr7:6629856-6630082	GM19240	blood:	n/a	n/a
48	CTCF	chr7:6629451-6629709	Hela-S3	cervix:	n/a	chr7:6629572-6629582 chr7:6629567-6629585 chr7:6629679-6629692 chr7:6629570-6629583 chr7:6629689-6629702 chr7:6629568-6629584 chr7:6629570-6629579 chr7:6629570-6629583
49	CTCF	chr7:6629480-6629630	GM12870	blood:	n/a	chr7:6629572-6629582 chr7:6629567-6629585 chr7:6629570-6629583 chr7:6629568-6629584 chr7:6629570-6629579 chr7:6629570-6629583
50	CTCF	chr7:6629429-6629716	GM12878	blood:	n/a	chr7:6629572-6629582 chr7:6629567-6629585 chr7:6629679-6629692 chr7:6629570-6629583 chr7:6629689-6629702 chr7:6629568-6629584 chr7:6629570-6629579 chr7:6629570-6629583

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:6629002-6629052	AG04450	lung:	fetal
2	chr7:6629002-6629052	AG04450	lung:	fetal
3	chr7:6629515-6629565	H1-hESC	embryonic stem cell:	embryo
4	chr7:6629350-6629400	GM12891	blood:	n/a
5	chr7:6629515-6629565	A549	lung:	n/a
6	chr7:6629515-6629565	NHBE	bronchial:	n/a
7	chr7:6629515-6629565	GM12891	blood:	n/a
8	chr7:6629002-6629052	RPTEC	kidney:	n/a
9	chr7:6629806-6629856	SKMC	muscle:	n/a
10	chr7:6629515-6629565	Hela-S3	cervix:	n/a
11	chr7:6629350-6629400	Hela-S3	cervix:	n/a
12	chr7:6629806-6629856	K562	blood:	n/a
13	chr7:6630190-6630240	AoSMC	blood vessel:	n/a
14	chr7:6629002-6629052	HEK293	kidney:	embryo
15	chr7:6629806-6629856	GM06990	blood:	n/a
16	chr7:6629350-6629400	SK-N-SH_RA	brain:	n/a
17	chr7:6629806-6629856	H1-hESC	embryonic stem cell:	embryo
18	chr7:6629350-6629400	HEEpiC	esophagus:	n/a
19	chr7:6629515-6629565	AG10803	skin:	n/a
20	chr7:6629350-6629400	CMK	blood:	n/a
21	chr7:6630190-6630240	Jurkat	blood:	n/a
22	chr7:6629959-6630009	NH-A	brain:	n/a
23	chr7:6629350-6629400	BJ	skin:	n/a
24	chr7:6629515-6629565	GM12892	blood:	n/a
25	chr7:6629002-6629052	NHBE	bronchial:	n/a
26	chr7:6630190-6630240	HIPEpiC	eye:	n/a
27	chr7:6629002-6629052	NHDF-neo	bronchial:	n/a
28	chr7:6629806-6629856	MCF-7	breast:	n/a
29	chr7:6629959-6630009	HRCEpiC	kidney:	n/a
30	chr7:6629806-6629856	Hepatocyte	liver:	n/a
31	chr7:6629959-6630009	SK-N-SH	brain:	n/a
32	chr7:6629515-6629565	CMK	blood:	n/a
33	chr7:6629002-6629052	HUVEC	blood vessel:	n/a
34	chr7:6629959-6630009	ECC-1	luminal epithelium:	n/a
35	chr7:6629350-6629400	SKMC	muscle:	n/a
36	chr7:6629515-6629565	AG04449	skin:	fetal
37	chr7:6629959-6630009	ovcar-3	ovarian:	n/a
38	chr7:6629350-6629400	Hepatocyte	liver:	n/a
39	chr7:6630190-6630240	HNPCEpiC	eye:	n/a
40	chr7:6629350-6629400	H1-hESC	embryonic stem cell:	embryo
41	chr7:6629002-6629052	SK-N-SH	brain:	n/a
42	chr7:6629350-6629400	HPAEpiC	pulmonary alveolar:	n/a
43	chr7:6629806-6629856	HL-60	blood:	n/a
44	chr7:6629806-6629856	HAEpiC	amniotic membrane:	n/a
45	chr7:6629515-6629565	K562	blood:	n/a
46	chr7:6630190-6630240	Hela-S3	cervix:	n/a
47	chr7:6629515-6629565	SK-N-SH_RA	brain:	n/a
48	chr7:6630190-6630240	RPTEC	kidney:	n/a
49	chr7:6629002-6629052	GM12892	blood:	n/a
50	chr7:6629515-6629565	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:80250434..80250943-chr7:6629426..6630149,2	HCT-116	colon:
2	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
3	chr7:6628238..6630542-chr7:6653702..6656593,2	MCF-7	breast:
4	chr7:6626891..6631454-chr7:6676260..6679154,6	K562	blood:
5	chr7:6628215..6631115-chr7:6675239..6679126,9	MCF-7	breast:
6	chr7:6628726..6630315-chr7:6654459..6656349,2	MCF-7	breast:
7	chr15:65809298..65809966-chr7:6629671..6630439,2	Hela-S3	cervix:
8	chr7:6522590..6525464-chr7:6629667..6631342,2	K562	blood:
9	chr7:6621445..6626175-chr7:6626576..6631235,7	MCF-7	breast:
10	chr7:6523333..6525416-chr7:6628158..6630053,2	K562	blood:
11	chr7:6628303..6631132-chr7:6637511..6639950,2	K562	blood:
12	chr7:6628194..6631157-chr7:6744707..6746398,2	MCF-7	breast:
13	chr7:6523102..6525727-chr7:6628447..6631086,2	MCF-7	breast:
14	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
15	chr7:6629715..6632730-chr7:6637377..6639993,3	K562	blood:
16	chr7:6627001..6634994-chr7:6673643..6681623,15	MCF-7	breast:
17	chr7:6627960..6631587-chr7:6636185..6643600,9	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GRID2IP-1	chr7:6628988-6629569	NONHSAT119018

Variant related genes	Relation type
C7orf26	TF binding region
ENSG00000232581	TF binding region
C7orf26	CpG island
ENSG00000232581	CpG island
ENSG00000074603	chromatin interactions
ENSG00000136247	chromatin interactions
ENSG00000236609	chromatin interactions
ENSG00000269781	chromatin interactions
ENSG00000136240	chromatin interactions
ENSG00000205903	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000164631	chromatin interactions
ENSG00000146576	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540875951	chr7:6628882-6628883	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs150061103	chr7:6628892-6628893	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs113477204	chr7:6628897-6628898	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs544466054	chr7:6628929-6628930	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs563105290	chr7:6628932-6628933	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs530191628	chr7:6628942-6628943	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs548717057	chr7:6628948-6628949	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs142334144	chr7:6628974-6628975	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs527679728	chr7:6629086-6629087	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs3813513	chr7:6629137-6629138	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs571482031	chr7:6629176-6629177	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
12	rs538952513	chr7:6629201-6629202	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
13	rs556849483	chr7:6629277-6629278	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
14	rs202130912	chr7:6629295-6629296	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
15	rs568725324	chr7:6629307-6629308	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
16	rs111288567	chr7:6629308-6629309	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
17	rs535901714	chr7:6629331-6629332	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
18	rs554249272	chr7:6629338-6629339	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
19	rs60742375	chr7:6629402-6629403	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs557619636	chr7:6629403-6629404	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
21	rs539838321	chr7:6629441-6629442	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
22	rs13312180	chr7:6629444-6629445	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs79195142	chr7:6629492-6629493	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
24	rs544914035	chr7:6629497-6629498	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
25	rs182739252	chr7:6629543-6629544	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
26	rs530329566	chr7:6629545-6629546	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs542487067	chr7:6629559-6629560	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
28	rs560557096	chr7:6629563-6629564	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
29	rs543006044	chr7:6629598-6629599	Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs374663441	chr7:6629606-6629607	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs552267141	chr7:6629611-6629612	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs570846608	chr7:6629645-6629646	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs532271336	chr7:6629676-6629677	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs548758727	chr7:6629682-6629683	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs368908364	chr7:6629724-6629725	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs550469127	chr7:6629738-6629739	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs568665378	chr7:6629761-6629762	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs536036840	chr7:6629799-6629800	Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs554384393	chr7:6629817-6629818	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs567676519	chr7:6629826-6629827	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs566429603	chr7:6629921-6629922	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs554956992	chr7:6629935-6629936	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs138440296	chr7:6629944-6629945	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs373117408	chr7:6629950-6629951	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs144102729	chr7:6629960-6629961	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs201758166	chr7:6629962-6629963	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs377254127	chr7:6629972-6629973	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs558242881	chr7:6629992-6629993	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs13312444	chr7:6630000-6630001	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs13306921	chr7:6630001-6630002	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
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
Bladder cancer	21909424	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
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Autism	20685689	CNVD

Chromatin state (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6617600-6629200	Weak transcription	Small Intestine	intestine
2	chr7:6617600-6629600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
5	chr7:6617800-6629000	Weak transcription	Right Atrium	heart
6	chr7:6617800-6629200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:6618200-6629000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr7:6618200-6629000	Strong transcription	Brain Cingulate Gyrus	brain
9	chr7:6618200-6629200	Strong transcription	Fetal Intestine Small	intestine
10	chr7:6618400-6629000	Strong transcription	Fetal Muscle Leg	muscle
11	chr7:6618400-6629000	Strong transcription	Fetal Thymus	thymus
12	chr7:6618600-6629000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:6618600-6629000	Strong transcription	Fetal Stomach	stomach
14	chr7:6618800-6629000	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:6619200-6629000	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:6619200-6629000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6619600-6629000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:6619800-6629000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:6620000-6629000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:6620000-6629000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:6620000-6629000	Strong transcription	Placenta	Placenta
22	chr7:6620000-6629200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:6620200-6629000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:6620200-6629200	Weak transcription	HSMM	muscle
25	chr7:6620800-6629000	Strong transcription	Dnd41	blood
26	chr7:6621800-6629000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:6622400-6629000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr7:6623400-6629000	Weak transcription	GM12878-XiMat	blood
29	chr7:6623400-6629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr7:6623400-6629200	Weak transcription	Psoas Muscle	Psoas
31	chr7:6623400-6629200	Weak transcription	HMEC	breast
32	chr7:6623600-6629000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:6623600-6629000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:6623600-6629000	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:6624600-6629000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:6624600-6629200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr7:6624800-6629000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:6624800-6629000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:6624800-6629200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:6624800-6629200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:6624800-6629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:6624800-6629200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr7:6624800-6629200	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:6624800-6629600	Weak transcription	Aorta	Aorta
45	chr7:6625000-6629000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr7:6625000-6629000	Weak transcription	Gastric	stomach
47	chr7:6625000-6629200	Weak transcription	HUVEC	blood vessel
48	chr7:6625000-6629800	Weak transcription	Fetal Kidney	kidney
49	chr7:6625000-6629800	Weak transcription	NHDF-Ad	bronchial
50	chr7:6625200-6629000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links