Variant report

Variant	esv3420993
Chromosome Location	chr6:30850923-30853321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:460)
CpG islands
(count:2138)
Chromatin interactive
region (count:38)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:460 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr6:30851829-30851928	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr6:30850946-30851270	GM12878	blood:	n/a	n/a
3	BHLHE40	chr6:30852519-30852861	GM12878	blood:	n/a	n/a
4	BHLHE40	chr6:30852224-30852226	GM12878	blood:	n/a	n/a
5	BHLHE40	chr6:30852574-30852862	K562	blood:	n/a	n/a
6	BRCA1	chr6:30851313-30851634	GM12878	blood:	n/a	n/a
7	CCNT2	chr6:30851523-30852704	K562	blood:	n/a	chr6:30852285-30852294 chr6:30852670-30852679
8	CEBPD	chr6:30851505-30852112	HepG2	liver:	n/a	n/a
9	CHD1	chr6:30851370-30851769	GM12878	blood:	n/a	n/a
10	CHD2	chr6:30852076-30852365	K562	blood:	n/a	n/a
11	CHD2	chr6:30851662-30852389	GM12878	blood:	n/a	n/a
12	CHD2	chr6:30852861-30852978	K562	blood:	n/a	n/a
13	CHD2	chr6:30853245-30853254	GM12878	blood:	n/a	n/a
14	CHD2	chr6:30851856-30852402	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr6:30852724-30852881	Hela-S3	cervix:	n/a	n/a
16	CREB1	chr6:30852033-30852318	A549	lung:	n/a	n/a
17	CREB1	chr6:30852707-30853077	A549	lung:	n/a	n/a
18	CTCF	chr6:30851780-30851930	GM12874	blood:	n/a	chr6:30851896-30851909
19	CTCF	chr6:30851760-30851910	HBMEC	blood vessel:	n/a	chr6:30851896-30851909
20	CTCF	chr6:30852960-30853110	AG04449	skin:	n/a	chr6:30853085-30853098
21	CTCF	chr6:30851760-30851910	GM12868	blood:	n/a	chr6:30851896-30851909
22	CTCF	chr6:30851720-30851870	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr6:30852720-30852870	SK-N-SH_RA	brain:	n/a	n/a
24	CTCF	chr6:30853000-30853150	HMEC	breast:	n/a	chr6:30853085-30853098
25	CTCF	chr6:30852840-30852990	HRE	kidney:	n/a	n/a
26	CTCF	chr6:30852721-30852828	GM12891	blood:	n/a	n/a
27	CTCF	chr6:30852760-30852910	HMEC	breast:	n/a	n/a
28	CTCF	chr6:30852720-30852870	AG09319	gingival:	n/a	n/a
29	CTCF	chr6:30852719-30852846	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr6:30852700-30852850	HEK293	kidney:	n/a	n/a
31	CTCF	chr6:30852660-30852810	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr6:30851720-30851870	HepG2	liver:	n/a	n/a
33	CTCF	chr6:30851760-30851910	HEK293	kidney:	n/a	chr6:30851896-30851909
34	CTCF	chr6:30851740-30851890	GM12878	blood:	n/a	n/a
35	CTCF	chr6:30852740-30852890	GM06990	blood:	n/a	n/a
36	CTCF	chr6:30851540-30851690	GM12873	blood:	n/a	n/a
37	CTCF	chr6:30852740-30852890	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr6:30852760-30852910	AG04449	skin:	n/a	n/a
39	CTCF	chr6:30851780-30851930	HMEC	breast:	n/a	chr6:30851896-30851909
40	CTCF	chr6:30852980-30853130	Hela-S3	cervix:	n/a	chr6:30853085-30853098
41	CTCF	chr6:30852697-30852844	GM12892	blood:	n/a	n/a
42	CTCF	chr6:30851660-30851810	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr6:30852800-30852950	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr6:30852600-30852750	HMEC	breast:	n/a	n/a
45	CTCF	chr6:30851820-30851970	GM12866	blood:	n/a	chr6:30851896-30851909
46	CTCF	chr6:30851720-30851870	GM12864	blood:	n/a	n/a
47	CTCF	chr6:30852960-30853110	WERI-Rb-1	eye:	n/a	chr6:30853085-30853098
48	CTCF	chr6:30852980-30853130	HRE	kidney:	n/a	chr6:30853085-30853098
49	CTCF	chr6:30852820-30852970	GM12875	blood:	n/a	n/a
50	CTCF	chr6:30851740-30851890	K562	blood:	n/a	n/a

(count:2138 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:30851753-30851803	HNPCEpiC	eye:	n/a
2	chr6:30852777-30852827	AoSMC	blood vessel:	n/a
3	chr6:30851529-30851579	HL-60	blood:	n/a
4	chr6:30851753-30851803	HNPCEpiC	eye:	n/a
5	chr6:30852777-30852827	AoSMC	blood vessel:	n/a
6	chr6:30851529-30851579	HL-60	blood:	n/a
7	chr6:30852069-30852119	Hela-S3	cervix:	n/a
8	chr6:30852573-30852623	NT2-D1	testis:	n/a
9	chr6:30851417-30851467	LNCaP	prostate:	n/a
10	chr6:30852587-30852637	IMR90	lung:	fetal
11	chr6:30850977-30851027	HRE	kidney:	n/a
12	chr6:30852963-30853013	HUVEC	blood vessel:	n/a
13	chr6:30850876-30850926	HRPEpiC	eye:	n/a
14	chr6:30851632-30851682	NHBE	bronchial:	n/a
15	chr6:30850977-30851027	GM12878	blood:	n/a
16	chr6:30853007-30853057	ovcar-3	ovarian:	n/a
17	chr6:30852573-30852623	PFSK-1	brain:	n/a
18	chr6:30852573-30852623	MCF-7	breast:	n/a
19	chr6:30851417-30851467	ECC-1	luminal epithelium:	n/a
20	chr6:30851940-30851990	U87	brain:	n/a
21	chr6:30852566-30852616	Jurkat	blood:	n/a
22	chr6:30851069-30851119	PFSK-1	brain:	n/a
23	chr6:30851051-30851101	HCPEpiC	choroid plexus:	n/a
24	chr6:30852963-30853013	SKMC	muscle:	n/a
25	chr6:30851517-30851567	CMK	blood:	n/a
26	chr6:30851638-30851688	BJ	skin:	n/a
27	chr6:30852092-30852142	SK-N-MC	brain:	n/a
28	chr6:30851638-30851688	NB4	blood:	n/a
29	chr6:30852761-30852811	Jurkat	blood:	n/a
30	chr6:30850977-30851027	CMK	blood:	n/a
31	chr6:30851517-30851567	HCM	heart:	n/a
32	chr6:30852092-30852142	RPTEC	kidney:	n/a
33	chr6:30852963-30853013	H1-hESC	embryonic stem cell:	embryo
34	chr6:30852963-30853013	A549	lung:	n/a
35	chr6:30851417-30851467	HRPEpiC	eye:	n/a
36	chr6:30851638-30851688	H1-hESC	embryonic stem cell:	embryo
37	chr6:30851753-30851803	CMK	blood:	n/a
38	chr6:30851086-30851136	AG04449	skin:	fetal
39	chr6:30853255-30853305	IMR90	lung:	fetal
40	chr6:30852354-30852404	SKMC	muscle:	n/a
41	chr6:30851051-30851101	Hela-S3	cervix:	n/a
42	chr6:30851069-30851119	HEEpiC	esophagus:	n/a
43	chr6:30850977-30851027	HCM	heart:	n/a
44	chr6:30851517-30851567	HL-60	blood:	n/a
45	chr6:30851638-30851688	HEK293	kidney:	embryo
46	chr6:30852587-30852637	HCPEpiC	choroid plexus:	n/a
47	chr6:30851632-30851682	HAEpiC	amniotic membrane:	n/a
48	chr6:30853255-30853305	HRE	kidney:	n/a
49	chr6:30851086-30851136	AG10803	skin:	n/a
50	chr6:30851632-30851682	Hela-S3	cervix:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30582976..30585649-chr6:30850283..30854979,5	MCF-7	breast:
2	chr6:30850897..30852602-chr6:31080609..31083224,2	MCF-7	breast:
3	chr12:120727928..120730827-chr6:30850671..30852390,2	MCF-7	breast:
4	chr6:30849687..30852078-chr6:30875212..30877587,2	K562	blood:
5	chr6:30849184..30852666-chr6:30852715..30854490,5	K562	blood:
6	chr6:30685105..30690458-chr6:30847596..30854595,13	MCF-7	breast:
7	chr6:30847750..30851239-chr6:30880214..30883075,5	K562	blood:
8	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
9	chr6:30456342..30459390-chr6:30850533..30854331,4	MCF-7	breast:
10	chr6:30670303..30672566-chr6:30849321..30851988,2	MCF-7	breast:
11	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
12	chr6:30850512..30853465-chr6:30873614..30877587,4	K562	blood:
13	chr6:30851061..30852670-chr6:30885316..30887287,2	MCF-7	breast:
14	chr6:30849765..30853673-chr6:30873635..30876591,7	MCF-7	breast:
15	chr6:30848838..30854096-chr6:30874501..30878794,8	MCF-7	breast:
16	chr6:30710692..30712313-chr6:30853038..30855427,2	K562	blood:
17	chr6:30847234..30851507-chr6:30857768..30862295,8	K562	blood:
18	chr6:30814424..30817937-chr6:30849019..30852528,4	MCF-7	breast:
19	chr6:30850869..30853262-chr6:30889505..30891289,2	MCF-7	breast:
20	chr6:30717879..30721732-chr6:30850020..30854415,6	MCF-7	breast:
21	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
22	chr3:24536865..24538833-chr6:30851271..30852816,2	MCF-7	breast:
23	chr6:30538401..30540196-chr6:30850753..30853451,2	MCF-7	breast:
24	chr17:56735048..56737037-chr6:30851531..30853489,2	MCF-7	breast:
25	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
26	chr6:30455629..30458030-chr6:30852314..30855015,2	K562	blood:
27	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
28	chr6:30689083..30692064-chr6:30851539..30853940,2	K562	blood:
29	chr6:30849184..30852666-chr6:30852715..30854490,5	K562	blood:
30	chr6:30748758..30751430-chr6:30850690..30852588,5	MCF-7	breast:
31	chr6:30687338..30691474-chr6:30850428..30854318,11	MCF-7	breast:
32	chr6:30685058..30687209-chr6:30852136..30853794,2	MCF-7	breast:
33	chr6:30582584..30584188-chr6:30850937..30852766,2	K562	blood:
34	chr6:30798389..30801828-chr6:30850243..30854490,5	MCF-7	breast:
35	chr6:30652677..30655941-chr6:30850357..30852153,3	MCF-7	breast:
36	chr6:30581806..30587588-chr6:30850201..30854112,13	MCF-7	breast:
37	chr6:30830444..30833119-chr6:30851282..30854552,3	MCF-7	breast:
38	chr6:30850840..30855328-chr6:30877838..30882665,10	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H4-5	chr6:30851758-30851855	NONHSAT108692
2	lnc-GTF2H4-5	chr6:30851178-30851664	NONHSAT108692

No data

Variant related genes	Relation type
DDR1	TF binding region
DDR1	CpG island
ENSG00000214894	chromatin interactions
ENSG00000204568	chromatin interactions
ENSG00000264594	chromatin interactions
ENSG00000137411	chromatin interactions
ENSG00000137337	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000137331	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000213780	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000228791	chromatin interactions
ENSG00000228022	chromatin interactions
ENSG00000272540	chromatin interactions
ENSG00000204574	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000224328	chromatin interactions
ENSG00000263608	chromatin interactions
ENSG00000202241	chromatin interactions
ENSG00000204540	chromatin interactions
ENSG00000204592	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000237923	chromatin interactions
ENSG00000146112	chromatin interactions
ENSG00000264731	chromatin interactions
ENSG00000196230	chromatin interactions
ENSG00000204580	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572858014	chr6:30850929-30850930	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
2	rs548398286	chr6:30851015-30851016	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
3	rs118120376	chr6:30851127-30851128	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs530512467	chr6:30851137-30851138	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
5	rs9380200	chr6:30851194-30851195	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138309816	chr6:30851236-30851237	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
7	rs9461638	chr6:30851305-30851306	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs115862581	chr6:30851360-30851361	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
9	rs566235524	chr6:30851407-30851408	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
10	rs570837868	chr6:30851461-30851462	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
11	rs149623962	chr6:30851462-30851463	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	Overlapped CNVs	n/a
12	rs144327477	chr6:30851516-30851517	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	25 gene(s)	Overlapped CNVs	n/a
13	rs534969854	chr6:30851574-30851575	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
14	rs571579316	chr6:30851586-30851587	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
15	rs537441460	chr6:30851600-30851601	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
16	rs74689782	chr6:30851601-30851602	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
17	rs73727107	chr6:30851632-30851633	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535996372	chr6:30851657-30851658	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	Overlapped CNVs	n/a
19	rs536504824	chr6:30851744-30851745	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
20	rs552917170	chr6:30851753-30851754	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
21	rs55982434	chr6:30851757-30851758	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
22	rs544812531	chr6:30851881-30851882	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
23	rs558600643	chr6:30851887-30851888	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
24	rs7757648	chr6:30851933-30851934	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs560498469	chr6:30851941-30851942	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
26	rs1264325	chr6:30851989-30851990	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs372879576	chr6:30852007-30852008	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
28	rs543270628	chr6:30852091-30852092	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
29	rs559729508	chr6:30852139-30852140	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs528662103	chr6:30852276-30852277	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs377616063	chr6:30852296-30852297	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs571705795	chr6:30852314-30852315	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs371013749	chr6:30852347-30852348	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
34	rs550997109	chr6:30852385-30852386	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
35	rs147143466	chr6:30852388-30852389	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs536567978	chr6:30852450-30852451	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs553218798	chr6:30852473-30852474	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
38	rs535425533	chr6:30852508-30852509	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs377749454	chr6:30852509-30852510	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs552668285	chr6:30852524-30852525	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs538816560	chr6:30852619-30852620	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
42	rs558424413	chr6:30852636-30852637	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
43	rs574995888	chr6:30852655-30852656	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs182943540	chr6:30852685-30852686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs554159438	chr6:30852691-30852692	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs569381386	chr6:30852698-30852699	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
47	rs574078002	chr6:30852712-30852713	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
48	rs542978078	chr6:30852733-30852734	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs9468842	chr6:30852747-30852748	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs111447306	chr6:30852785-30852786	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:476 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30845800-30851200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:30846000-30851200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr6:30846000-30851400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr6:30846000-30851600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:30846000-30851600	Weak transcription	Liver	Liver
6	chr6:30846000-30851600	Weak transcription	HUVEC	blood vessel
7	chr6:30846200-30851200	Weak transcription	Psoas Muscle	Psoas
8	chr6:30846200-30851400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:30848200-30851400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr6:30848200-30851600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr6:30848400-30851600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:30848600-30851000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:30848600-30852000	Enhancers	NH-A	brain
14	chr6:30848800-30851600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr6:30848800-30851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:30848800-30851800	Flanking Active TSS	Brain Germinal Matrix	brain
17	chr6:30849000-30851400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:30849000-30851400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:30849000-30851600	Enhancers	HSMM	muscle
20	chr6:30849200-30852000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr6:30849200-30852200	Enhancers	Fetal Heart	heart
22	chr6:30849400-30851400	Enhancers	Thymus	Thymus
23	chr6:30849400-30851600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:30849400-30851800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
25	chr6:30849400-30851800	Enhancers	NHLF	lung
26	chr6:30849600-30851400	Enhancers	Brain Substantia Nigra	brain
27	chr6:30849600-30851400	Enhancers	Colon Smooth Muscle	Colon
28	chr6:30849600-30851800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:30849800-30851000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:30849800-30851000	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:30849800-30851000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr6:30849800-30851000	Enhancers	Stomach Smooth Muscle	stomach
33	chr6:30849800-30851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:30849800-30851800	Enhancers	Fetal Brain Male	brain
35	chr6:30850000-30851000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:30850000-30851000	Enhancers	Primary B cells from cord blood	blood
37	chr6:30850000-30851000	Enhancers	Lung	lung
38	chr6:30850000-30851400	Flanking Active TSS	NHEK	skin
39	chr6:30850000-30851600	Enhancers	Adipose Nuclei	Adipose
40	chr6:30850000-30851800	Enhancers	Brain Angular Gyrus	brain
41	chr6:30850000-30851800	Weak transcription	Osteobl	bone
42	chr6:30850000-30853000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr6:30850200-30851000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr6:30850200-30851000	Flanking Active TSS	Fetal Muscle Leg	muscle
45	chr6:30850200-30851000	Enhancers	Spleen	Spleen
46	chr6:30850200-30851200	Enhancers	Brain Cingulate Gyrus	brain
47	chr6:30850200-30851400	Enhancers	Primary T cells fromperipheralblood	blood
48	chr6:30850200-30851400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr6:30850200-30851400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr6:30850200-30851800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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