Variant report

Variant	esv33699
Chromosome Location	chr6:31094845-31110011
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	chr6:31105363-31105486	K562	blood:	n/a	n/a
2	ARID3A	chr6:31105255-31105577	HepG2	liver:	n/a	n/a
3	ATF2	chr6:31105232-31105534	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr6:31105286-31105648	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr6:31105371-31105493	K562	blood:	n/a	n/a
6	BATF	chr6:31103563-31103761	GM12878	blood:	n/a	n/a
7	BCLAF1	chr6:31105143-31105674	GM12878	blood:	n/a	n/a
8	BHLHE40	chr6:31105348-31105490	K562	blood:	n/a	n/a
9	BHLHE40	chr6:31095948-31096224	GM12878	blood:	n/a	n/a
10	BHLHE40	chr6:31095960-31096140	K562	blood:	n/a	n/a
11	BHLHE40	chr6:31105321-31105565	GM12878	blood:	n/a	n/a
12	BRCA1	chr6:31105378-31105589	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr6:31105284-31105563	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr6:31105154-31105652	K562	blood:	n/a	n/a
15	CEBPB	chr6:31102351-31102537	HepG2	liver:	n/a	chr6:31102404-31102416 chr6:31102448-31102459 chr6:31102447-31102460 chr6:31102433-31102444
16	CEBPB	chr6:31107704-31107978	IMR90	lung:	n/a	chr6:31107860-31107871 chr6:31107859-31107872 chr6:31107859-31107870 chr6:31107859-31107872
17	CEBPB	chr6:31107774-31107950	HepG2	liver:	n/a	chr6:31107860-31107871 chr6:31107859-31107872 chr6:31107859-31107870 chr6:31107859-31107872
18	CEBPB	chr6:31107807-31107898	K562	blood:	n/a	chr6:31107860-31107871 chr6:31107859-31107872 chr6:31107859-31107870 chr6:31107859-31107872
19	CEBPB	chr6:31107810-31107978	A549	lung:	n/a	chr6:31107860-31107871 chr6:31107859-31107872 chr6:31107859-31107870 chr6:31107859-31107872
20	CEBPB	chr6:31107698-31107939	H1-hESC	embryonic stem cell:	n/a	chr6:31107860-31107871 chr6:31107859-31107872 chr6:31107859-31107870 chr6:31107859-31107872
21	CHD2	chr6:31105334-31105534	GM12878	blood:	n/a	n/a
22	CHD2	chr6:31105377-31105433	K562	blood:	n/a	n/a
23	CREB1	chr6:31105268-31105585	A549	lung:	n/a	n/a
24	CTCF	chr6:31096840-31096990	HPAF	blood vessel:	n/a	n/a
25	CTCF	chr6:31096020-31096170	HCM	heart:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
26	CTCF	chr6:31105320-31105470	HRPEpiC	eye:	n/a	n/a
27	CTCF	chr6:31105221-31105577	T-47D	breast:	n/a	n/a
28	CTCF	chr6:31105241-31105508	GM10248	blood:	n/a	n/a
29	CTCF	chr6:31096020-31096170	HFF	foreskin:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
30	CTCF	chr6:31105300-31105450	Caco-2	colon:	n/a	n/a
31	CTCF	chr6:31105400-31105550	HCT-116	colon:	n/a	n/a
32	CTCF	chr6:31105380-31105530	A549	lung:	n/a	n/a
33	CTCF	chr6:31106931-31107024	MCF-7	breast:	n/a	n/a
34	CTCF	chr6:31105113-31105602	A549	lung:	n/a	n/a
35	CTCF	chr6:31101160-31101310	HEK293	kidney:	n/a	n/a
36	CTCF	chr6:31105340-31105490	NHEK	skin:	n/a	n/a
37	CTCF	chr6:31096340-31096490	Hela-S3	cervix:	n/a	chr6:31096433-31096442 chr6:31096429-31096442
38	CTCF	chr6:31094980-31095130	GM12864	blood:	n/a	n/a
39	CTCF	chr6:31095882-31096261	K562	blood:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
40	CTCF	chr6:31096000-31096150	HCPEpiC	choroid plexus:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
41	CTCF	chr6:31101120-31101270	GM12865	blood:	n/a	n/a
42	CTCF	chr6:31105300-31105450	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr6:31105280-31105430	GM12869	blood:	n/a	n/a
44	CTCF	chr6:31105300-31105450	WERI-Rb-1	eye:	n/a	n/a
45	CTCF	chr6:31096000-31096150	GM12870	blood:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
46	CTCF	chr6:31096000-31096150	GM12864	blood:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
47	CTCF	chr6:31105234-31105549	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr6:31096000-31096150	HFF-Myc	foreskin:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
49	CTCF	chr6:31095980-31096130	GM12870	blood:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073
50	CTCF	chr6:31095909-31096219	Lung_OC	lung:	n/a	chr6:31096066-31096075 chr6:31096060-31096078 chr6:31096055-31096076 chr6:31096062-31096075 chr6:31096061-31096077 chr6:31096063-31096073

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31097051-31097101	PrEC	prostate:	n/a
2	chr6:31104593-31104643	GM12891	blood:	n/a
3	chr6:31097051-31097101	PrEC	prostate:	n/a
4	chr6:31104593-31104643	GM12891	blood:	n/a
5	chr6:31106522-31106572	BJ	skin:	n/a
6	chr6:31097051-31097101	RPTEC	kidney:	n/a
7	chr6:31096127-31096177	AG10803	skin:	n/a
8	chr6:31107186-31107236	HUVEC	blood vessel:	n/a
9	chr6:31097051-31097101	SK-N-SH_RA	brain:	n/a
10	chr6:31105337-31105387	MCF10A-Er-Src	breast:	n/a
11	chr6:31106302-31106352	RPTEC	kidney:	n/a
12	chr6:31097078-31097128	HCT-116	colon:	n/a
13	chr6:31106045-31106095	NB4	blood:	n/a
14	chr6:31106302-31106352	GM12892	blood:	n/a
15	chr6:31105872-31105922	GM12892	blood:	n/a
16	chr6:31096189-31096239	HNPCEpiC	eye:	n/a
17	chr6:31106982-31107032	NHDF-neo	bronchial:	n/a
18	chr6:31095800-31095850	HCPEpiC	choroid plexus:	n/a
19	chr6:31096931-31096981	Hepatocyte	liver:	n/a
20	chr6:31106982-31107032	SKMC	muscle:	n/a
21	chr6:31096127-31096177	HUVEC	blood vessel:	n/a
22	chr6:31107240-31107290	HRE	kidney:	n/a
23	chr6:31095845-31095895	HCT-116	colon:	n/a
24	chr6:31105927-31105977	H1-hESC	embryonic stem cell:	embryo
25	chr6:31104593-31104643	GM06990	blood:	n/a
26	chr6:31107663-31107713	SK-N-SH_RA	brain:	n/a
27	chr6:31097078-31097128	HRPEpiC	eye:	n/a
28	chr6:31096861-31096911	NHBE	bronchial:	n/a
29	chr6:31106288-31106338	HepG2	liver:	n/a
30	chr6:31106982-31107032	A549	lung:	n/a
31	chr6:31108541-31108591	SAEC	small airway:	n/a
32	chr6:31106982-31107032	HUVEC	blood vessel:	n/a
33	chr6:31096931-31096981	BE2_C	brain:	n/a
34	chr6:31097073-31097123	GM19239	blood:	n/a
35	chr6:31105711-31105761	HRPEpiC	eye:	n/a
36	chr6:31107240-31107290	GM19239	blood:	n/a
37	chr6:31106302-31106352	HEEpiC	esophagus:	n/a
38	chr6:31105744-31105794	HRCEpiC	kidney:	n/a
39	chr6:31105337-31105387	GM19239	blood:	n/a
40	chr6:31106522-31106572	GM12878	blood:	n/a
41	chr6:31096931-31096981	GM06990	blood:	n/a
42	chr6:31097078-31097128	U87	brain:	n/a
43	chr6:31106302-31106352	AoSMC	blood vessel:	n/a
44	chr6:31105337-31105387	AG09309	skin:	n/a
45	chr6:31101276-31101326	GM12878	blood:	n/a
46	chr6:31107240-31107290	NT2-D1	testis:	n/a
47	chr6:31106181-31106231	SAEC	small airway:	n/a
48	chr6:31104593-31104643	Hepatocyte	liver:	n/a
49	chr6:31107240-31107290	ECC-1	luminal epithelium:	n/a
50	chr6:31107240-31107290	HCPEpiC	choroid plexus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:31093836..31097468-chr6:31099358..31102420,4	K562	blood:
2	chr6:31107022..31110169-chr6:31112293..31115408,4	K562	blood:
3	chr6:31093740..31096659-chr6:31097265..31098967,2	K562	blood:
4	chr6:31106197..31108708-chr6:31109139..31110645,2	MCF-7	breast:
5	chr6:31095559..31096550-chr6:31334364..31334869,2	K562	blood:
6	chr6:31091355..31093056-chr6:31098971..31100519,2	K562	blood:
7	chr6:31096272..31098669-chr6:31109725..31111701,2	MCF-7	breast:
8	chr6:31104826..31105838-chr6:31409068..31409966,3	K562	blood:
9	chr6:31104961..31105839-chr6:31334399..31335415,6	K562	blood:
10	chr6:31096272..31098669-chr6:31109725..31111701,2	MCF-7	breast:
11	chr6:31103871..31105834-chr6:31123155..31127372,3	MCF-7	breast:
12	chr6:31081982..31084650-chr6:31092935..31096389,3	MCF-7	breast:
13	chr6:31090987..31092952-chr6:31095057..31097204,2	K562	blood:
14	chr6:30884097..30886583-chr6:31095164..31097227,2	K562	blood:
15	chr6:31093836..31097468-chr6:31099358..31102420,4	K562	blood:
16	chr6:31107129..31110169-chr6:31111741..31115408,4	K562	blood:
17	chr6:31103022..31109591-chr6:31125707..31129394,9	MCF-7	breast:
18	chr6:31086431..31090113-chr6:31095332..31098474,3	K562	blood:
19	chr6:31093740..31096659-chr6:31097265..31098967,2	K562	blood:
20	chr6:31090881..31093261-chr6:31094192..31096306,2	K562	blood:
21	chr6:31095053..31098000-chr6:31105579..31108492,2	K562	blood:
22	chr6:31088197..31091806-chr6:31092941..31094886,3	K562	blood:
23	chr6:31075272..31076774-chr6:31094558..31097353,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSORS1C1-1	chr6:31097346-31097422	NONHSAT108719
2	lnc-PSORS1C1-1	chr6:31106136-31107219	NONHSAT108723
3	lnc-PSORS1C1-1	chr6:31106136-31106508	NONHSAT108722
4	lnc-PSORS1C1-1	chr6:31101330-31101471	NONHSAT108719
5	lnc-PSORS1C1-1	chr6:31107418-31107815	NONHSAT108721

Variant related genes	Relation type
POLR2LP	TF binding region
PSORS1C2	TF binding region
PSORS1C1	TF binding region
POLR2LP	CpG island
PSORS1C2	CpG island
PSORS1C1	CpG island
ENSG00000137411	chromatin interactions
ENSG00000228432	chromatin interactions
ENSG00000204540	chromatin interactions
ENSG00000230174	chromatin interactions
ENSG00000204536	chromatin interactions
ENSG00000204538	chromatin interactions
ENSG00000204539	chromatin interactions
ENSG00000137310	chromatin interactions
ENSG00000238211	chromatin interactions

Extended variants
information (count: 702 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375149410	chr6:31094911-31094912	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs113771657	chr6:31094929-31094930	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552410922	chr6:31094937-31094938	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117730294	chr6:31094953-31094954	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs538218239	chr6:31094954-31094955	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10947137	chr6:31094971-31094972	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565091979	chr6:31095002-31095003	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs6931921	chr6:31095003-31095004	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs6931464	chr6:31095007-31095008	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs6931633	chr6:31095051-31095052	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs6911408	chr6:31095066-31095067	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs142562409	chr6:31095067-31095068	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558859113	chr6:31095073-31095074	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs6932086	chr6:31095088-31095089	Weak transcription Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs116110579	chr6:31095247-31095248	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs9263708	chr6:31095270-31095271	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6932435	chr6:31095285-31095286	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs3131004	chr6:31095294-31095295	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs546008355	chr6:31095306-31095307	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs564366829	chr6:31095324-31095325	Weak transcription Enhancers Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs77907697	chr6:31095338-31095339	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs574571961	chr6:31095339-31095340	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs577439107	chr6:31095366-31095367	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs9257056	chr6:31095368-31095369	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs553285862	chr6:31095420-31095421	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs185542681	chr6:31095434-31095435	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs568300279	chr6:31095461-31095462	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs535639670	chr6:31095466-31095467	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs189787593	chr6:31095484-31095485	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569749233	chr6:31095516-31095517	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs536822219	chr6:31095520-31095521	Weak transcription Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs558754990	chr6:31095569-31095570	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs370634657	chr6:31095592-31095593	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs28728470	chr6:31095596-31095597	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs563276821	chr6:31095597-31095598	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs373389066	chr6:31095605-31095606	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs180987739	chr6:31095609-31095610	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs202168869	chr6:31095619-31095620	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs115307411	chr6:31095620-31095621	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs371841419	chr6:31095622-31095623	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs553353282	chr6:31095625-31095626	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs9461647	chr6:31095672-31095673	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs372400642	chr6:31095686-31095687	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs574734508	chr6:31095708-31095709	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs374179690	chr6:31095722-31095723	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs557155436	chr6:31095777-31095778	Weak transcription Enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs9263715	chr6:31095801-31095802	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs9263716	chr6:31095816-31095817	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs377391168	chr6:31095825-31095826	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs559306306	chr6:31095827-31095828	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	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
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
Hodgkin''s lymphoma	18641027	CNVD
lymphocytic leukemia	21291569	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31083200-31105400	Weak transcription	Spleen	Spleen
2	chr6:31088000-31095000	Enhancers	HMEC	breast
3	chr6:31088200-31095000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:31089000-31096200	Enhancers	Lung	lung
5	chr6:31090000-31095800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:31091200-31096000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:31092200-31095200	Enhancers	Fetal Muscle Leg	muscle
8	chr6:31092600-31096000	Enhancers	Stomach Mucosa	stomach
9	chr6:31092800-31095000	Enhancers	Left Ventricle	heart
10	chr6:31092800-31095200	Enhancers	Adipose Nuclei	Adipose
11	chr6:31092800-31095200	Enhancers	HSMM	muscle
12	chr6:31093000-31095000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:31093000-31096000	Enhancers	Gastric	stomach
14	chr6:31093000-31096000	Enhancers	Right Atrium	heart
15	chr6:31093000-31096000	Enhancers	Right Ventricle	heart
16	chr6:31093200-31096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:31093400-31095200	Enhancers	HSMMtube	muscle
18	chr6:31093400-31095800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr6:31093400-31105400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:31093400-31107000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:31093600-31095000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:31093800-31095600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:31093800-31097800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr6:31094000-31095400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:31094000-31095800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr6:31094000-31097000	Weak transcription	Pancreas	Pancrea
27	chr6:31094200-31095000	Enhancers	Fetal Intestine Small	intestine
28	chr6:31094200-31095000	Genic enhancers	Placenta Amnion	Placenta Amnion
29	chr6:31094200-31095200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:31094200-31096000	Enhancers	Duodenum Mucosa	Duodenum
31	chr6:31094400-31095200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr6:31094400-31095200	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr6:31094400-31096000	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr6:31094600-31095200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr6:31094600-31095200	Enhancers	K562	blood
36	chr6:31094600-31095800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr6:31094600-31099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:31094800-31095000	Enhancers	Primary hematopoietic stem cells	blood
39	chr6:31094800-31095200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:31094800-31095400	Enhancers	GM12878-XiMat	blood
41	chr6:31094800-31095800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:31094800-31095800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:31094800-31095800	Weak transcription	Colonic Mucosa	Colon
44	chr6:31094800-31095800	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr6:31094800-31095800	Weak transcription	NHEK	skin
46	chr6:31094800-31097000	Weak transcription	Esophagus	oesophagus
47	chr6:31095000-31096400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr6:31095000-31097200	Weak transcription	Left Ventricle	heart
49	chr6:31095000-31105400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr6:31095000-31105400	Weak transcription	HMEC	breast

The 2.0 version of rSNPBase

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