Variant report

Variant	rs11935204
Chromosome Location	chr4:158731374-158731375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr4:158731326-158731790	HepG2	liver:	n/a	n/a
2	ZEB1	chr4:158731182-158731792	HepG2	liver:	n/a	n/a
3	RCOR1	chr4:158731297-158731762	HepG2	liver:	n/a	n/a
4	RAD21	chr4:158731266-158731565	HepG2	liver:	n/a	n/a
5	FOXA2	chr4:158731247-158731696	HepG2	liver:	n/a	n/a
6	TEAD4	chr4:158731128-158731788	HepG2	liver:	n/a	n/a
7	MYC	chr4:158731275-158731575	MCF10A-Er-Src	breast:	n/a	n/a
8	MYBL2	chr4:158731035-158731841	HepG2	liver:	n/a	n/a
9	NFIC	chr4:158731085-158731891	HepG2	liver:	n/a	n/a
10	RXRA	chr4:158731270-158731690	HepG2	liver:	n/a	n/a
11	JUND	chr4:158731254-158731727	HepG2	liver:	n/a	n/a
12	MAFK	chr4:158731341-158731719	HepG2	liver:	n/a	n/a
13	TBP	chr4:158731317-158731733	HepG2	liver:	n/a	n/a
14	ARID3A	chr4:158731106-158731793	HepG2	liver:	n/a	n/a
15	FOXA1	chr4:158731147-158731737	HepG2	liver:	n/a	n/a
16	EP300	chr4:158731196-158731670	HepG2	liver:	n/a	n/a
17	FOXA1	chr4:158731156-158731955	HepG2	liver:	n/a	n/a
18	HNF4A	chr4:158731334-158731728	HepG2	liver:	n/a	n/a
19	SP1	chr4:158731188-158731775	HepG2	liver:	n/a	n/a
20	POLR2A	chr4:158731225-158731466	MCF10A-Er-Src	breast:	n/a	n/a
21	RAD21	chr4:158731242-158731681	HepG2	liver:	n/a	n/a
22	HDAC2	chr4:158731237-158731724	HepG2	liver:	n/a	n/a
23	FOXA1	chr4:158731174-158732022	HepG2	liver:	n/a	n/a
24	EP300	chr4:158731290-158731665	HepG2	liver:	n/a	n/a
25	FOXA1	chr4:158731139-158732019	HepG2	liver:	n/a	n/a
26	HDAC2	chr4:158731242-158731697	HepG2	liver:	n/a	n/a
27	HNF4G	chr4:158731280-158731735	HepG2	liver:	n/a	n/a
28	FOS	chr4:158731355-158731572	MCF10A-Er-Src	breast:	n/a	n/a
29	TCF7L2	chr4:158731259-158731790	HepG2	liver:	n/a	n/a
30	EP300	chr4:158731167-158731741	HepG2	liver:	n/a	n/a
31	NFIC	chr4:158731227-158731737	HepG2	liver:	n/a	n/a
32	HNF4G	chr4:158731242-158731720	HepG2	liver:	n/a	n/a
33	FOXA2	chr4:158730966-158731915	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:158730340..158733222-chr4:158735249..158736822,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000249627	TF binding region
ENSG00000249627	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10004462	0.86[ASN][1000 genomes]
rs10020931	0.92[ASN][1000 genomes]
rs10027160	0.90[ASN][1000 genomes]
rs10517676	0.92[ASN][1000 genomes]
rs12711313	0.94[ASN][1000 genomes]
rs13146529	0.89[CHB][hapmap]
rs13149222	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13150049	1.00[CEU][hapmap];0.94[GIH][hapmap];0.90[EUR][1000 genomes]
rs1448439	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1600724	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2345275	0.89[ASN][1000 genomes]
rs4142913	0.87[ASN][1000 genomes]
rs61625157	0.87[ASN][1000 genomes]
rs6839071	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7662735	0.98[ASN][1000 genomes]
rs7671381	0.90[ASN][1000 genomes]
rs7690058	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018387	chr4:157959931-158764190	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv993476	chr4:158550643-159202015	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1025064	chr4:158719316-158898333	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv1808904	chr4:158727016-158731374	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv2760875	chr4:158727028-158744592	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv437449	chr4:158727739-158732576	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3466461	chr4:158728274-158732028	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv9809	chr4:158728286-158731906	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3466462	chr4:158728311-158732015	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3466459	chr4:158728341-158731989	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3466460	chr4:158728365-158731960	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	esv3466458	chr4:158728411-158731917	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	esv3466464	chr4:158728426-158731916	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
14	esv1811712	chr4:158728448-158731792	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
15	esv1807717	chr4:158728520-158731592	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	esv1811324	chr4:158728520-158732449	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv437450	chr4:158728552-158734343	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1805815	chr4:158728615-158731792	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv1805372	chr4:158728768-158742582	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
20	esv1807548	chr4:158729425-158731374	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv2421450	chr4:158729437-158731374	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv1792499	chr4:158729559-158731378	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv1807200	chr4:158729559-158731378	Weak transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv1809840	chr4:158729559-158731378	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv1833230	chr4:158729559-158731378	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	nsv520186	chr4:158729559-158741459	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
27	nsv442926	chr4:158729562-158731378	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv3323912	chr4:158731270-158731500	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:158724800-158734400	Weak transcription	Aorta	Aorta
2	chr4:158727000-158731400	Weak transcription	Colon Smooth Muscle	Colon
3	chr4:158730200-158731400	Enhancers	Rectal Smooth Muscle	rectum
4	chr4:158730200-158732800	Enhancers	HepG2	liver
5	chr4:158731000-158732000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:158731000-158732000	Enhancers	Fetal Intestine Small	intestine
7	chr4:158731000-158732000	Weak transcription	Stomach Mucosa	stomach
8	chr4:158731000-158732200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr4:158731000-158732200	Enhancers	Fetal Intestine Large	intestine
10	chr4:158731000-158732200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr4:158731200-158731600	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:158731200-158731800	Enhancers	Liver	Liver
13	chr4:158731200-158732000	Enhancers	Stomach Smooth Muscle	stomach
14	chr4:158731200-158732000	Enhancers	HMEC	breast

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