Variant report

Variant	nsv884511
Chromosome Location	chr6:31894818-31903121
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:488)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:31894926-31895476	HepG2	liver:	n/a	n/a
2	ATF3	chr6:31897323-31897651	K562	blood:	n/a	n/a
3	BHLHE40	chr6:31895047-31895374	HepG2	liver:	n/a	n/a
4	BHLHE40	chr6:31894995-31895366	HepG2	liver:	n/a	n/a
5	BHLHE40	chr6:31894964-31895678	HepG2	liver:	n/a	n/a
6	BRCA1	chr6:31895597-31895600	GM12878	blood:	n/a	n/a
7	CEBPB	chr6:31894934-31895385	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101
8	CEBPB	chr6:31897408-31897532	IMR90	lung:	n/a	n/a
9	CEBPB	chr6:31897261-31897652	K562	blood:	n/a	n/a
10	CEBPB	chr6:31894937-31895235	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101
11	CEBPB	chr6:31897340-31897551	MCF-7	breast:	n/a	n/a
12	CEBPB	chr6:31897331-31897563	HepG2	liver:	n/a	n/a
13	CEBPB	chr6:31897851-31898017	K562	blood:	n/a	n/a
14	CEBPB	chr6:31897422-31897483	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr6:31894911-31895384	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101
16	CEBPB	chr6:31897340-31897614	HepG2	liver:	n/a	n/a
17	CEBPB	chr6:31897262-31897579	K562	blood:	n/a	n/a
18	CEBPB	chr6:31897332-31897604	A549	lung:	n/a	n/a
19	CEBPB	chr6:31897348-31897544	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr6:31894960-31895399	HepG2	liver:	n/a	chr6:31895090-31895103 chr6:31895090-31895101 chr6:31895090-31895103 chr6:31895091-31895102 chr6:31895090-31895101
21	CEBPB	chr6:31897333-31897551	K562	blood:	n/a	n/a
22	CEBPD	chr6:31894960-31895475	HepG2	liver:	n/a	n/a
23	CEBPD	chr6:31895062-31895676	HepG2	liver:	n/a	n/a
24	CHD2	chr6:31896131-31896204	HepG2	liver:	n/a	n/a
25	CHD2	chr6:31895476-31895698	HepG2	liver:	n/a	n/a
26	CTCF	chr6:31898380-31898530	WERI-Rb-1	eye:	n/a	chr6:31898451-31898472 chr6:31898476-31898483 chr6:31898469-31898487 chr6:31898464-31898485 chr6:31898449-31898467
27	CTCF	chr6:31898400-31898550	GM12871	blood:	n/a	chr6:31898451-31898472 chr6:31898476-31898483 chr6:31898469-31898487 chr6:31898464-31898485 chr6:31898449-31898467
28	CTCF	chr6:31898620-31898770	NHDF-neo	bronchial:	n/a	n/a
29	CTCF	chr6:31902068-31902081	MCF-7	breast:	n/a	n/a
30	CUX1	chr6:31895350-31895358	K562	blood:	n/a	n/a
31	CUX1	chr6:31896282-31896378	K562	blood:	n/a	n/a
32	E2F6	chr6:31902830-31903240	H1-hESC	embryonic stem cell:	n/a	n/a
33	E2F6	chr6:31902859-31903197	H1-hESC	embryonic stem cell:	n/a	n/a
34	ELF1	chr6:31894920-31895580	HepG2	liver:	n/a	n/a
35	ELF1	chr6:31897195-31897603	HepG2	liver:	n/a	n/a
36	ELF1	chr6:31897282-31897601	HepG2	liver:	n/a	n/a
37	ELF1	chr6:31894906-31895670	HepG2	liver:	n/a	n/a
38	ELF1	chr6:31897200-31897521	K562	blood:	n/a	n/a
39	EP300	chr6:31894933-31895632	HepG2	liver:	n/a	chr6:31895088-31895102
40	EP300	chr6:31894824-31895464	HepG2	liver:	n/a	chr6:31895088-31895102
41	EP300	chr6:31894884-31895693	HepG2	liver:	n/a	chr6:31895088-31895102
42	FOS	chr6:31897526-31897535	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA1	chr6:31894844-31895560	HepG2	liver:	n/a	n/a
44	FOXA1	chr6:31894591-31895550	HepG2	liver:	n/a	n/a
45	FOXA1	chr6:31894875-31895543	HepG2	liver:	n/a	n/a
46	FOXA1	chr6:31894789-31895564	HepG2	liver:	n/a	n/a
47	FOXA2	chr6:31894874-31895491	HepG2	liver:	n/a	n/a
48	FOXA2	chr6:31894614-31895818	HepG2	liver:	n/a	n/a
49	HDAC2	chr6:31894898-31895452	HepG2	liver:	n/a	n/a
50	HDAC2	chr6:31894900-31895833	HepG2	liver:	n/a	chr6:31895684-31895698 chr6:31895664-31895678

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:31895464-31895514	ovcar-3	ovarian:	n/a
2	chr6:31895203-31895253	Jurkat	blood:	n/a
3	chr6:31895598-31895648	Caco-2	colon:	n/a
4	chr6:31895598-31895648	MCF-7	breast:	n/a
5	chr6:31895493-31895543	HCM	heart:	n/a
6	chr6:31895464-31895514	SK-N-SH_RA	brain:	n/a
7	chr6:31895491-31895541	MCF-7	breast:	n/a
8	chr6:31895257-31895307	U87	brain:	n/a
9	chr6:31895493-31895543	HPAEpiC	pulmonary alveolar:	n/a
10	chr6:31895464-31895514	AG09309	skin:	n/a
11	chr6:31895257-31895307	NH-A	brain:	n/a
12	chr6:31895491-31895541	NHBE	bronchial:	n/a
13	chr6:31895179-31895229	U87	brain:	n/a
14	chr6:31895257-31895307	AG09309	skin:	n/a
15	chr6:31894990-31895040	RPTEC	kidney:	n/a
16	chr6:31895257-31895307	HEEpiC	esophagus:	n/a
17	chr6:31895203-31895253	CMK	blood:	n/a
18	chr6:31895203-31895253	HPAEpiC	pulmonary alveolar:	n/a
19	chr6:31895203-31895253	AG10803	skin:	n/a
20	chr6:31895464-31895514	HNPCEpiC	eye:	n/a
21	chr6:31895464-31895514	HCPEpiC	choroid plexus:	n/a
22	chr6:31895464-31895514	PANC-1	pancreas:	n/a
23	chr6:31895203-31895253	HUVEC	blood vessel:	n/a
24	chr6:31895493-31895543	BJ	skin:	n/a
25	chr6:31895493-31895543	H1-hESC	embryonic stem cell:	embryo
26	chr6:31895203-31895253	BJ	skin:	n/a
27	chr6:31895493-31895543	HCF	heart:	n/a
28	chr6:31895493-31895543	SAEC	small airway:	n/a
29	chr6:31895493-31895543	SK-N-SH_RA	brain:	n/a
30	chr6:31895493-31895543	GM12892	blood:	n/a
31	chr6:31895203-31895253	GM06990	blood:	n/a
32	chr6:31894990-31895040	PFSK-1	brain:	n/a
33	chr6:31895598-31895648	BE2_C	brain:	n/a
34	chr6:31895493-31895543	SK-N-SH	brain:	n/a
35	chr6:31895203-31895253	AoSMC	blood vessel:	n/a
36	chr6:31894990-31895040	HRE	kidney:	n/a
37	chr6:31895491-31895541	HCPEpiC	choroid plexus:	n/a
38	chr6:31895493-31895543	GM06990	blood:	n/a
39	chr6:31895464-31895514	HCT-116	colon:	n/a
40	chr6:31895491-31895541	GM12878	blood:	n/a
41	chr6:31895598-31895648	Hepatocyte	liver:	n/a
42	chr6:31895179-31895229	NH-A	brain:	n/a
43	chr6:31895598-31895648	GM19239	blood:	n/a
44	chr6:31895257-31895307	HCT-116	colon:	n/a
45	chr6:31895203-31895253	GM12891	blood:	n/a
46	chr6:31895493-31895543	SK-N-MC	brain:	n/a
47	chr6:31895464-31895514	NHDF-neo	bronchial:	n/a
48	chr6:31895493-31895543	GM19239	blood:	n/a
49	chr6:31895464-31895514	GM12891	blood:	n/a
50	chr6:31895464-31895514	HCF	heart:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:31894637..31897073-chr6:31910021..31912431,2	K562	blood:
2	chr6:31885324..31888930-chr6:31894115..31898580,5	MCF-7	breast:
3	chr6:31801711..31804111-chr6:31897294..31899860,2	K562	blood:
4	chr6:31894560..31897888-chr6:31924484..31928410,3	K562	blood:
5	chr6:31897859..31900031-chr6:31908770..31911118,2	MCF-7	breast:
6	chr6:31626044..31628862-chr6:31901843..31903585,2	K562	blood:
7	chr6:31868781..31871119-chr6:31892943..31895660,2	MCF-7	breast:
8	chr6:31903042..31906191-chr6:31910964..31913136,3	MCF-7	breast:
9	chr6:31894637..31897740-chr6:31910021..31912431,3	K562	blood:
10	chr6:31867879..31871842-chr6:31901664..31905567,4	MCF-7	breast:
11	chr6:31869231..31871840-chr6:31901304..31905157,3	MCF-7	breast:
12	chr6:31893919..31897907-chr6:31913762..31916831,4	MCF-7	breast:
13	chr6:31894302..31895141-chr6:31919817..31920619,2	MCF-7	breast:
14	chr6:31888284..31890115-chr6:31896764..31898849,2	K562	blood:
15	chr6:31900289..31902605-chr6:31938581..31941421,2	K562	blood:
16	chr6:31894560..31897888-chr6:31924484..31926934,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RDBP-1	chr6:31902251-31902409	NR_104191
2	lnc-RDBP-1	chr6:31903117-31903179	NR_104191

No data

Variant related genes	Relation type
CFB	TF binding region
C2	TF binding region
ENSG00000244255	TF binding region
CFB	CpG island
C2	CpG island
ENSG00000244255	CpG island
ENSG00000221267	chromatin interactions
ENSG00000204366	chromatin interactions
ENSG00000166278	chromatin interactions
ENSG00000201823	chromatin interactions
ENSG00000204356	chromatin interactions
ENSG00000204351	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000243649	chromatin interactions
ENSG00000227198	chromatin interactions
ENSG00000204387	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000204439	chromatin interactions

Extended variants
information (count: 304 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207466852	chr6:31894821-31894822	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs141731918	chr6:31894907-31894908	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs575325254	chr6:31894984-31894985	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs543982809	chr6:31895018-31895019	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
5	rs562466192	chr6:31895027-31895028	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs533024363	chr6:31895051-31895052	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs147079295	chr6:31895064-31895065	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs564109347	chr6:31895084-31895085	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs546870634	chr6:31895098-31895099	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs562038239	chr6:31895180-31895181	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs138564270	chr6:31895189-31895190	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs550786489	chr6:31895220-31895221	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs4711281	chr6:31895241-31895242	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs539972675	chr6:31895260-31895261	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs551354544	chr6:31895363-31895364	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs150299426	chr6:31895385-31895386	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs560140167	chr6:31895424-31895425	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs533952040	chr6:31895492-31895493	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs189454050	chr6:31895512-31895513	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs567981013	chr6:31895547-31895548	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs527279908	chr6:31895564-31895565	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs538032432	chr6:31895591-31895592	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs201812754	chr6:31895597-31895598	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs9332704	chr6:31895619-31895620	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs545872709	chr6:31895620-31895621	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs180745280	chr6:31895631-31895632	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs572850142	chr6:31895753-31895754	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs200095096	chr6:31895758-31895759	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs201336507	chr6:31895766-31895767	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs561819885	chr6:31895775-31895776	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs200412106	chr6:31895777-31895778	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs377750767	chr6:31895789-31895790	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs201909990	chr6:31895806-31895807	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs146464977	chr6:31895869-31895870	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs376686530	chr6:31895892-31895893	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs137902889	chr6:31895903-31895904	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs566638128	chr6:31895913-31895914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs547881286	chr6:31895930-31895931	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs567227615	chr6:31895941-31895942	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs189688452	chr6:31895971-31895972	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs7746553	chr6:31895973-31895974	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs375420029	chr6:31895978-31895979	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs567859536	chr6:31896042-31896043	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs148007342	chr6:31896055-31896056	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs111912404	chr6:31896217-31896218	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs571764613	chr6:31896231-31896232	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs181297764	chr6:31896279-31896280	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs145964728	chr6:31896415-31896416	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs540212027	chr6:31896450-31896451	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs374124173	chr6:31896462-31896463	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
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	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31890200-31895400	Weak transcription	Lung	lung
2	chr6:31891400-31896400	Weak transcription	Small Intestine	intestine
3	chr6:31892600-31895000	Weak transcription	Fetal Intestine Small	intestine
4	chr6:31892800-31895000	Weak transcription	Fetal Intestine Large	intestine
5	chr6:31894400-31895600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:31894600-31895200	Flanking Active TSS	HepG2	liver
7	chr6:31894800-31895000	Flanking Active TSS	Liver	Liver
8	chr6:31894800-31895200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr6:31894800-31895600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:31895000-31895200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:31895000-31895200	Enhancers	Adipose Nuclei	Adipose
12	chr6:31895000-31895200	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:31895000-31895400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:31895000-31895400	Enhancers	Fetal Intestine Large	intestine
15	chr6:31895000-31895400	Enhancers	Fetal Intestine Small	intestine
16	chr6:31895000-31895400	Enhancers	HSMMtube	muscle
17	chr6:31895000-31895400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr6:31895000-31895600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:31895000-31896400	Active TSS	Liver	Liver
20	chr6:31895200-31895400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:31895200-31895400	Enhancers	Placenta	Placenta
22	chr6:31895200-31896000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:31895200-31896000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:31895200-31896000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:31895200-31896000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:31895200-31896000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr6:31895200-31896000	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr6:31895200-31896400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr6:31895200-31896600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr6:31895200-31896600	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr6:31895400-31895600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr6:31895400-31895600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr6:31895400-31895600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:31895400-31895600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr6:31895400-31895600	Flanking Active TSS	Placenta	Placenta
36	chr6:31895400-31895600	Flanking Active TSS	Lung	lung
37	chr6:31895400-31895600	Flanking Active TSS	HSMMtube	muscle
38	chr6:31895400-31895800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:31895400-31895800	Active TSS	Brain Anterior Caudate	brain
40	chr6:31895400-31895800	Flanking Active TSS	Fetal Intestine Small	intestine
41	chr6:31895400-31895800	Enhancers	HSMM	muscle
42	chr6:31895400-31895800	Enhancers	K562	blood
43	chr6:31895400-31896000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:31895400-31896000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:31895400-31896000	Flanking Active TSS	Fetal Intestine Large	intestine
46	chr6:31895400-31896000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr6:31895400-31896000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr6:31895400-31896000	Active TSS	Rectal Smooth Muscle	rectum
49	chr6:31895400-31896000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
50	chr6:31895400-31896000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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