Variant report

Variant	rs6940163
Chromosome Location	chr6:131148426-131148427
allele	C/T
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	FOXA1	chr6:131148157-131148822	HepG2	liver:	n/a	n/a
2	HNF4A	chr6:131148300-131149288	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148521-131148536 chr6:131149233-131149241 chr6:131148522-131148534 chr6:131148520-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
3	POLR2A	chr6:131148299-131148863	HepG2	liver:	n/a	n/a
4	MAX	chr6:131148363-131149336	HepG2	liver:	n/a	n/a
5	MAX	chr6:131148164-131149458	HepG2	liver:	n/a	n/a
6	JUND	chr6:131148334-131148731	HepG2	liver:	n/a	n/a
7	RAD21	chr6:131148225-131149235	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:131148255-131151991	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:131148257-131151176	HepG2	liver:	n/a	n/a
10	FOXA1	chr6:131148229-131149351	HepG2	liver:	n/a	n/a
11	HNF4G	chr6:131148296-131148760	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148519-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
12	FOXA2	chr6:131148018-131149105	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:131148236-131149517	HepG2	liver:	n/a	n/a
14	TEAD4	chr6:131147982-131149813	HepG2	liver:	n/a	n/a
15	MAFF	chr6:131148292-131149291	HepG2	liver:	n/a	chr6:131149048-131149066
16	FOSL2	chr6:131148294-131148855	HepG2	liver:	n/a	n/a
17	HDAC2	chr6:131148080-131149073	HepG2	liver:	n/a	chr6:131148135-131148149
18	MYBL2	chr6:131148186-131149512	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:131148405-131149395	HepG2	liver:	n/a	n/a
20	EP300	chr6:131148141-131148837	HepG2	liver:	n/a	n/a
21	HNF4G	chr6:131148256-131148770	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148519-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
22	JUND	chr6:131148300-131148787	HepG2	liver:	n/a	n/a
23	RXRA	chr6:131148255-131148771	HepG2	liver:	n/a	chr6:131148379-131148388
24	RAD21	chr6:131148356-131149145	HepG2	liver:	n/a	n/a
25	CEBPD	chr6:131148400-131148831	HepG2	liver:	n/a	n/a
26	HNF4A	chr6:131148271-131148808	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148520-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
27	POLR2A	chr6:131148261-131151644	HepG2	liver:	n/a	n/a
28	REST	chr6:131148325-131148689	HepG2	liver:	n/a	n/a
29	ARID3A	chr6:131147911-131149430	HepG2	liver:	n/a	n/a
30	MBD4	chr6:131148184-131149727	HepG2	liver:	n/a	n/a
31	NFIC	chr6:131148140-131149383	HepG2	liver:	n/a	n/a
32	MAFK	chr6:131148254-131149247	HepG2	liver:	n/a	chr6:131149051-131149060 chr6:131149049-131149065 chr6:131149054-131149065 chr6:131149049-131149064 chr6:131149052-131149066 chr6:131149053-131149064 chr6:131149053-131149064 chr6:131149054-131149065
33	FOXA1	chr6:131148264-131148801	HepG2	liver:	n/a	n/a
34	REST	chr6:131148283-131148850	HepG2	liver:	n/a	n/a
35	RFX5	chr6:131148325-131149155	HepG2	liver:	n/a	n/a
36	YY1	chr6:131148398-131148856	HepG2	liver:	n/a	n/a
37	EP300	chr6:131148178-131148845	HepG2	liver:	n/a	n/a
38	HNF4A	chr6:131148259-131148863	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148520-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
39	HEY1	chr6:131148198-131149499	HepG2	liver:	n/a	n/a
40	FOXA2	chr6:131148256-131148863	HepG2	liver:	n/a	n/a
41	MXI1	chr6:131148319-131149336	HepG2	liver:	n/a	n/a
42	TBP	chr6:131148304-131149186	HepG2	liver:	n/a	n/a
43	NFIC	chr6:131148236-131149379	HepG2	liver:	n/a	n/a
44	RAD21	chr6:131148387-131149148	HepG2	liver:	n/a	n/a
45	MAFK	chr6:131148315-131149263	HepG2	liver:	n/a	chr6:131149051-131149060 chr6:131149049-131149065 chr6:131149054-131149065 chr6:131149049-131149064 chr6:131149052-131149066 chr6:131149053-131149064 chr6:131149053-131149064 chr6:131149054-131149065
46	POLR2A	chr6:131148222-131163334	HepG2	liver:	n/a	n/a
47	HDAC2	chr6:131148157-131148804	HepG2	liver:	n/a	n/a
48	RCOR1	chr6:131148275-131148844	HepG2	liver:	n/a	n/a
49	SP1	chr6:131148123-131149267	HepG2	liver:	n/a	n/a
50	FOXA1	chr6:131148109-131148845	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SMLR1	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10499180	1.00[CHD][hapmap]
rs1114644	1.00[ASN][1000 genomes]
rs11968011	1.00[CHD][hapmap]
rs11968295	0.90[ASN][1000 genomes]
rs12333037	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2039509	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2236080	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3777439	1.00[CEU][hapmap];0.90[ASN][1000 genomes]
rs3777446	0.90[ASN][1000 genomes]
rs3822862	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs55825065	0.90[ASN][1000 genomes]
rs56287869	0.90[ASN][1000 genomes]
rs58072193	0.90[ASN][1000 genomes]
rs60609111	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6900130	0.83[TSI][hapmap]
rs6906068	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6907608	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6910788	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6914649	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6922872	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.90[ASN][1000 genomes]
rs6933789	1.00[ASN][1000 genomes]
rs73629702	0.90[ASN][1000 genomes]
rs73631003	0.90[ASN][1000 genomes]
rs73632204	0.90[ASN][1000 genomes]
rs73632239	0.90[ASN][1000 genomes]
rs73774316	0.90[ASN][1000 genomes]
rs73774318	0.90[ASN][1000 genomes]
rs73774322	0.90[ASN][1000 genomes]
rs73775303	1.00[ASN][1000 genomes]
rs73775313	0.90[ASN][1000 genomes]
rs73775315	0.90[ASN][1000 genomes]
rs73775327	0.90[ASN][1000 genomes]
rs73775329	0.81[ASN][1000 genomes]
rs73775330	0.90[ASN][1000 genomes]
rs73775331	0.90[ASN][1000 genomes]
rs73775333	0.90[ASN][1000 genomes]
rs7747303	0.90[ASN][1000 genomes]
rs7754229	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7762876	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7764383	1.00[ASN][1000 genomes]
rs7766938	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs7775288	1.00[ASN][1000 genomes]
rs871628	1.00[CEU][hapmap];1.00[CHD][hapmap]
rs9483190	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs955191	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131146400-131148600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:131147600-131157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:131147800-131149000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr6:131147800-131149400	Enhancers	Pancreas	Pancrea
8	chr6:131148000-131148600	Weak transcription	Fetal Intestine Large	intestine
9	chr6:131148000-131157000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:131148200-131149800	Active TSS	Liver	Liver
11	chr6:131148400-131148600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:131148400-131148600	Active TSS	HepG2	liver
13	chr6:131148400-131148800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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