Variant report

Variant	rs1723527
Chromosome Location	chr6:64101818-64101819
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	POLR2A	chr6:64101570-64101862	HepG2	liver:	n/a	n/a
2	MAX	chr6:64101091-64102367	HepG2	liver:	n/a	chr6:64101706-64101715
3	HNF4A	chr6:64101252-64101910	HepG2	liver:	n/a	chr6:64101599-64101611 chr6:64101598-64101611 chr6:64101598-64101611 chr6:64101597-64101612 chr6:64101599-64101612
4	BHLHE40	chr6:64101403-64101854	HepG2	liver:	n/a	n/a
5	RAD21	chr6:64101280-64101866	HepG2	liver:	n/a	n/a
6	FOXA2	chr6:64100780-64102254	HepG2	liver:	n/a	n/a
7	JUND	chr6:64101275-64101823	HepG2	liver:	n/a	n/a
8	HDAC2	chr6:64101104-64101869	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:64101642-64101862	HepG2	liver:	n/a	n/a
10	JUND	chr6:64101300-64101863	HepG2	liver:	n/a	n/a
11	HNF4A	chr6:64101221-64101884	HepG2	liver:	n/a	chr6:64101599-64101611 chr6:64101598-64101611 chr6:64101598-64101611 chr6:64101597-64101612 chr6:64101599-64101612
12	FOXA1	chr6:64101076-64101940	HepG2	liver:	n/a	n/a
13	SPI1	chr6:64101538-64101846	HL-60	blood:	n/a	chr6:64101695-64101708
14	USF1	chr6:64101513-64101845	HepG2	liver:	n/a	n/a
15	FOXA1	chr6:64101135-64101856	HepG2	liver:	n/a	n/a
16	EP300	chr6:64101257-64101902	HepG2	liver:	n/a	n/a
17	ARID3A	chr6:64101330-64101949	HepG2	liver:	n/a	n/a
18	TEAD4	chr6:64100974-64102166	HepG2	liver:	n/a	n/a
19	CEBPB	chr6:64101370-64101827	HepG2	liver:	n/a	n/a
20	FOXA1	chr6:64101077-64101923	HepG2	liver:	n/a	n/a
21	USF1	chr6:64101442-64101847	HepG2	liver:	n/a	n/a
22	FOXA2	chr6:64101101-64101866	HepG2	liver:	n/a	n/a
23	MYBL2	chr6:64101024-64102068	HepG2	liver:	n/a	n/a
24	HNF4G	chr6:64101248-64101889	HepG2	liver:	n/a	chr6:64101599-64101611 chr6:64101598-64101611 chr6:64101598-64101611 chr6:64101599-64101612
25	EP300	chr6:64101060-64101944	HepG2	liver:	n/a	n/a
26	TBP	chr6:64101187-64101918	HepG2	liver:	n/a	n/a
27	SPI1	chr6:64101546-64101829	GM12891	blood:	n/a	chr6:64101695-64101708
28	RXRA	chr6:64101257-64101859	HepG2	liver:	n/a	chr6:64101597-64101611
29	MAFK	chr6:64101362-64101857	HepG2	liver:	n/a	n/a
30	POLR2A	chr6:64101221-64101866	HepG2	liver:	n/a	n/a
31	MAX	chr6:64101214-64101856	HepG2	liver:	n/a	chr6:64101706-64101715
32	MBD4	chr6:64101005-64101943	HepG2	liver:	n/a	n/a
33	HNF4G	chr6:64101114-64101846	HepG2	liver:	n/a	chr6:64101599-64101611 chr6:64101598-64101611 chr6:64101598-64101611 chr6:64101599-64101612
34	NFIC	chr6:64101075-64101880	HepG2	liver:	n/a	n/a
35	MBD4	chr6:64101024-64101965	HepG2	liver:	n/a	n/a
36	NR2F2	chr6:64101222-64101869	HepG2	liver:	n/a	n/a
37	REST	chr6:64101340-64101902	HepG2	liver:	n/a	n/a
38	HEY1	chr6:64101146-64101928	HepG2	liver:	n/a	n/a
39	MAX	chr6:64101076-64102039	HepG2	liver:	n/a	chr6:64101706-64101715
40	NFIC	chr6:64101209-64101936	HepG2	liver:	n/a	n/a
41	SP1	chr6:64101150-64101960	HepG2	liver:	n/a	n/a
42	HEY1	chr6:64101241-64102013	HepG2	liver:	n/a	n/a
43	RAD21	chr6:64101071-64101932	HepG2	liver:	n/a	chr6:64101239-64101253 chr6:64101238-64101257
44	USF2	chr6:64101267-64101869	HepG2	liver:	n/a	n/a
45	EP300	chr6:64101194-64101900	HepG2	liver:	n/a	n/a
46	SMC3	chr6:64101199-64101898	HepG2	liver:	n/a	n/a
47	RAD21	chr6:64101291-64101901	HepG2	liver:	n/a	n/a
48	HNF4A	chr6:64101080-64101925	HepG2	liver:	n/a	chr6:64101599-64101611 chr6:64101598-64101611 chr6:64101598-64101611 chr6:64101597-64101612 chr6:64101599-64101612
49	MYBL2	chr6:64101036-64102379	HepG2	liver:	n/a	n/a
50	TCF12	chr6:64101348-64101852	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000218617	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010057	1.00[ASN][1000 genomes]
rs1320419	0.92[ASN][1000 genomes]
rs1404779	1.00[ASN][1000 genomes]
rs1525354	0.92[CHD][hapmap]
rs1525355	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1525357	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1525361	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1711918	0.92[ASN][1000 genomes]
rs1723499	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1723500	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1723503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1723528	0.92[ASN][1000 genomes]
rs1723531	0.92[CHD][hapmap]
rs1741810	1.00[ASN][1000 genomes]
rs1741813	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1779757	0.92[CHD][hapmap]
rs1857565	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2005098	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2622277	1.00[CHB][hapmap]
rs2677023	0.92[CHD][hapmap]
rs2677024	0.92[CHD][hapmap]
rs2677026	0.92[ASN][1000 genomes]
rs2677027	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2677029	0.88[ASN][1000 genomes]
rs2753071	0.92[ASN][1000 genomes]
rs2753072	0.92[ASN][1000 genomes]
rs2753073	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2800024	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2800025	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs2800031	1.00[ASN][1000 genomes]
rs2800033	0.92[ASN][1000 genomes]
rs2800034	0.92[ASN][1000 genomes]
rs2800035	0.92[ASN][1000 genomes]
rs56212786	0.88[ASN][1000 genomes]
rs732948	0.92[ASN][1000 genomes]
rs7750785	1.00[ASN][1000 genomes]
rs7767012	0.88[ASN][1000 genomes]
rs824380	0.92[ASN][1000 genomes]
rs824381	0.96[ASN][1000 genomes]
rs824390	0.92[ASN][1000 genomes]
rs824391	1.00[ASN][1000 genomes]
rs824392	1.00[ASN][1000 genomes]
rs824393	1.00[ASN][1000 genomes]
rs824394	0.92[ASN][1000 genomes]
rs861113	0.92[ASN][1000 genomes]
rs865415	1.00[ASN][1000 genomes]
rs865416	1.00[ASN][1000 genomes]
rs940741	0.92[ASN][1000 genomes]
rs9767041	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019831	chr6:63279677-64230736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv538270	chr6:63682752-64147241	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1031548	chr6:64026862-64102045	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1030651	chr6:64028392-64102045	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr6:64076400-64113600	Weak transcription	Placenta	Placenta
2	chr6:64098800-64102600	Enhancers	Fetal Intestine Large	intestine
3	chr6:64100000-64102000	Enhancers	Fetal Intestine Small	intestine
4	chr6:64100800-64102600	Enhancers	Liver	Liver
5	chr6:64101000-64102400	Enhancers	Duodenum Mucosa	Duodenum
6	chr6:64101200-64102000	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr6:64101200-64102000	Flanking Active TSS	HepG2	liver
8	chr6:64101200-64102200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr6:64101200-64102400	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr6:64101200-64102400	Enhancers	Small Intestine	intestine
11	chr6:64101200-64102600	Enhancers	Pancreas	Pancrea
12	chr6:64101400-64102200	Enhancers	Stomach Mucosa	stomach
13	chr6:64101400-64102600	Strong transcription	A549	lung

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