Variant report

Variant	rs654955
Chromosome Location	chr6:81213536-81213537
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	NFIC	chr6:81213296-81213810	HepG2	liver:	n/a	n/a
2	FOXA2	chr6:81213441-81213779	HepG2	liver:	n/a	n/a
3	SP1	chr6:81213343-81213811	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:81213448-81213851	HepG2	liver:	n/a	n/a
5	FOXA1	chr6:81213376-81213924	HepG2	liver:	n/a	n/a
6	MAX	chr6:81213443-81213836	HepG2	liver:	n/a	n/a
7	BHLHE40	chr6:81213410-81213759	HepG2	liver:	n/a	n/a
8	FOXA1	chr6:81213436-81213785	HepG2	liver:	n/a	n/a
9	FOXA1	chr6:81213352-81213802	HepG2	liver:	n/a	n/a
10	HNF4A	chr6:81213426-81213719	HepG2	liver:	n/a	chr6:81213630-81213645 chr6:81213579-81213594
11	RXRA	chr6:81213454-81213730	HepG2	liver:	n/a	n/a
12	HNF4A	chr6:81213401-81213811	HepG2	liver:	n/a	chr6:81213630-81213645 chr6:81213579-81213594
13	HNF4G	chr6:81213386-81213827	HepG2	liver:	n/a	n/a
14	EP300	chr6:81213414-81213737	HepG2	liver:	n/a	n/a
15	REST	chr6:81213464-81213726	HepG2	liver:	n/a	n/a
16	TEAD4	chr6:81213280-81213864	HepG2	liver:	n/a	n/a
17	MXI1	chr6:81213520-81213732	HepG2	liver:	n/a	n/a
18	MYC	chr6:81213525-81213692	HepG2	liver:	n/a	n/a
19	NFIC	chr6:81213445-81213786	HepG2	liver:	n/a	n/a
20	RAD21	chr6:81213496-81213784	HepG2	liver:	n/a	n/a
21	MYBL2	chr6:81213330-81213834	HepG2	liver:	n/a	n/a
22	EP300	chr6:81213423-81213761	HepG2	liver:	n/a	n/a
23	FOXA1	chr6:81213424-81213822	HepG2	liver:	n/a	n/a
24	TCF12	chr6:81213454-81213743	HepG2	liver:	n/a	n/a
25	MAX	chr6:81213471-81213719	HepG2	liver:	n/a	n/a
26	EP300	chr6:81213429-81213758	HepG2	liver:	n/a	n/a
27	HDAC2	chr6:81213368-81213702	HepG2	liver:	n/a	n/a
28	HDAC2	chr6:81213413-81213760	HepG2	liver:	n/a	n/a
29	HNF4A	chr6:81213357-81213731	HepG2	liver:	n/a	chr6:81213630-81213645 chr6:81213579-81213594
30	HNF4G	chr6:81213434-81213790	HepG2	liver:	n/a	n/a
31	CEBPB	chr6:81213464-81213792	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:81213174..81214838-chr6:81216651..81219122,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181705	TF binding region

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs11961045	0.80[EUR][1000 genomes]
rs1436867	0.96[EUR][1000 genomes]
rs1436868	0.89[EUR][1000 genomes]
rs1698337	0.96[EUR][1000 genomes]
rs1816564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1865917	0.82[EUR][1000 genomes]
rs2164606	0.96[EUR][1000 genomes]
rs2164607	0.96[EUR][1000 genomes]
rs2164608	0.96[EUR][1000 genomes]
rs2164610	0.80[EUR][1000 genomes]
rs2437879	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917605	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2917607	0.96[EUR][1000 genomes]
rs2917608	0.96[EUR][1000 genomes]
rs3011299	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3011300	0.82[EUR][1000 genomes]
rs3011301	0.87[EUR][1000 genomes]
rs3011302	0.89[EUR][1000 genomes]
rs3011304	0.96[EUR][1000 genomes]
rs484560	0.96[EUR][1000 genomes]
rs485088	0.80[EUR][1000 genomes]
rs486271	0.96[EUR][1000 genomes]
rs487328	0.96[EUR][1000 genomes]
rs488098	0.80[EUR][1000 genomes]
rs506825	0.96[EUR][1000 genomes]
rs508759	0.96[EUR][1000 genomes]
rs512946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514517	0.80[EUR][1000 genomes]
rs520099	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520139	0.96[EUR][1000 genomes]
rs522183	0.96[EUR][1000 genomes]
rs526071	0.91[CEU][hapmap]
rs528886	0.96[EUR][1000 genomes]
rs529744	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs532709	0.96[EUR][1000 genomes]
rs535350	0.96[EUR][1000 genomes]
rs538905	0.80[EUR][1000 genomes]
rs540896	0.93[EUR][1000 genomes]
rs541446	0.80[EUR][1000 genomes]
rs553433	0.96[EUR][1000 genomes]
rs558478	0.91[CEU][hapmap]
rs559034	0.93[EUR][1000 genomes]
rs560068	0.96[EUR][1000 genomes]
rs560909	0.96[EUR][1000 genomes]
rs564757	0.96[EUR][1000 genomes]
rs567324	0.91[CEU][hapmap]
rs568155	0.96[EUR][1000 genomes]
rs568253	0.80[EUR][1000 genomes]
rs572007	0.96[EUR][1000 genomes]
rs577129	0.96[EUR][1000 genomes]
rs577892	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs580525	0.96[EUR][1000 genomes]
rs582966	0.80[EUR][1000 genomes]
rs584904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs585229	0.80[EUR][1000 genomes]
rs586593	0.80[EUR][1000 genomes]
rs586605	0.80[EUR][1000 genomes]
rs593167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs594567	0.96[EUR][1000 genomes]
rs595791	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596723	0.91[CEU][hapmap]
rs597937	0.82[EUR][1000 genomes]
rs597950	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs598382	0.80[EUR][1000 genomes]
rs610292	0.96[EUR][1000 genomes]
rs612684	0.80[EUR][1000 genomes]
rs614483	0.80[EUR][1000 genomes]
rs615815	0.82[EUR][1000 genomes]
rs622089	0.96[EUR][1000 genomes]
rs622117	0.96[EUR][1000 genomes]
rs622849	0.96[EUR][1000 genomes]
rs623286	0.96[EUR][1000 genomes]
rs623367	0.96[EUR][1000 genomes]
rs624645	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs625136	0.96[EUR][1000 genomes]
rs630687	0.96[EUR][1000 genomes]
rs631481	0.96[EUR][1000 genomes]
rs632397	0.96[EUR][1000 genomes]
rs645216	0.96[EUR][1000 genomes]
rs654625	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs655350	0.96[EUR][1000 genomes]
rs656381	0.91[CEU][hapmap];0.96[EUR][1000 genomes]
rs661076	0.96[EUR][1000 genomes]
rs661119	0.96[EUR][1000 genomes]
rs66969849	0.96[EUR][1000 genomes]
rs67220910	0.96[EUR][1000 genomes]
rs674031	0.96[EUR][1000 genomes]
rs675769	0.96[EUR][1000 genomes]
rs681085	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs687203	0.96[EUR][1000 genomes]
rs694288	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694756	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73473458	0.96[EUR][1000 genomes]
rs7757432	0.80[EUR][1000 genomes]
rs9352838	0.89[CEU][hapmap]
rs9443781	0.96[EUR][1000 genomes]
rs9449007	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531333	chr6:81042427-81836484	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1019670	chr6:81086504-81569984	ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv915714	chr6:81134888-81366749	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1019932	chr6:81155458-81217868	Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv886311	chr6:81166178-81239971	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv886312	chr6:81166178-81309481	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv886313	chr6:81177227-81239971	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81208000-81222600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:81211600-81215000	Enhancers	HepG2	liver

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