Variant report

Variant	rs4836345
Chromosome Location	chr5:127266015-127266016
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	TCF12	chr5:127265796-127266527	A549	lung:	n/a	n/a
2	NFIC	chr5:127265870-127266434	ECC-1	luminal epithelium:	n/a	n/a
3	GATA3	chr5:127265677-127266384	SK-N-SH	brain:	n/a	chr5:127266017-127266027 chr5:127266018-127266026 chr5:127266012-127266033 chr5:127266014-127266030 chr5:127266014-127266030 chr5:127266049-127266060
4	TEAD4	chr5:127265959-127266398	ECC-1	luminal epithelium:	n/a	n/a
5	CBX3	chr5:127265914-127266535	HCT-116	colon:	n/a	chr5:127266345-127266356
6	TCF12	chr5:127265952-127266482	SK-N-SH	brain:	n/a	n/a
7	SP1	chr5:127265868-127266520	HCT-116	colon:	n/a	n/a
8	GATA2	chr5:127265973-127266212	HUVEC	blood vessel:	n/a	chr5:127266017-127266027 chr5:127266012-127266033 chr5:127266014-127266030 chr5:127266014-127266030 chr5:127266049-127266060
9	GATA3	chr5:127265703-127266477	SK-N-SH	brain:	n/a	chr5:127266017-127266027 chr5:127266018-127266026 chr5:127266012-127266033 chr5:127266014-127266030 chr5:127266014-127266030 chr5:127266049-127266060
10	NFIC	chr5:127265878-127266465	ECC-1	luminal epithelium:	n/a	n/a
11	JUND	chr5:127265413-127266483	HCT-116	colon:	n/a	chr5:127266407-127266416
12	SP1	chr5:127265855-127266503	HCT-116	colon:	n/a	n/a
13	TEAD4	chr5:127265853-127266446	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:127263364..127266213-chr5:127293562..127295793,3	MCF-7	breast:
2	chr5:127257196..127261867-chr5:127264373..127267767,5	MCF-7	breast:
3	chr5:127264947..127266921-chr5:127268999..127270511,2	MCF-7	breast:
4	chr5:127264889..127267722-chr5:127417761..127420462,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230561	TF binding region
ENSG00000245937	Chromatin interaction
ENSG00000064651	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10052229	0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs10065448	0.94[JPT][hapmap]
rs10071108	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10072806	0.87[CHD][hapmap];0.83[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10074995	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs10079317	1.00[JPT][hapmap]
rs10463834	0.94[JPT][hapmap]
rs10477678	0.81[ASN][1000 genomes]
rs10478787	0.84[JPT][hapmap]
rs10900794	1.00[JPT][hapmap]
rs11740438	1.00[JPT][hapmap]
rs11740439	1.00[JPT][hapmap]
rs12173092	0.83[ASN][1000 genomes]
rs12173229	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12173231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517005	1.00[JPT][hapmap]
rs12523625	0.84[JPT][hapmap]
rs12654649	0.81[ASN][1000 genomes]
rs12658023	1.00[JPT][hapmap]
rs13361741	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs1520246	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs17164505	0.81[ASN][1000 genomes]
rs2263502	0.81[ASN][1000 genomes]
rs2409034	0.89[CHD][hapmap];0.81[ASN][1000 genomes]
rs2409037	1.00[JPT][hapmap]
rs2681509	0.81[ASN][1000 genomes]
rs56806325	0.81[ASN][1000 genomes]
rs6864814	0.83[ASN][1000 genomes]
rs6865186	0.81[ASN][1000 genomes]
rs6892704	0.84[JPT][hapmap]
rs6898966	0.81[ASN][1000 genomes]
rs732236	0.84[JPT][hapmap]
rs73331900	0.81[ASN][1000 genomes]
rs73333517	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7711172	0.81[ASN][1000 genomes]
rs9327457	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9327458	0.84[CHB][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127253000-127266200	Weak transcription	Fetal Heart	heart
2	chr5:127258400-127266400	Weak transcription	Gastric	stomach
3	chr5:127258400-127266400	Weak transcription	Pancreas	Pancrea
4	chr5:127261800-127266200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:127261800-127270200	Weak transcription	NHEK	skin
6	chr5:127262000-127266200	Weak transcription	Hela-S3	cervix
7	chr5:127262800-127272000	Weak transcription	Small Intestine	intestine
8	chr5:127264200-127270400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:127265400-127266200	Enhancers	A549	lung
10	chr5:127265400-127267400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:127265600-127266400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:127265600-127266600	Enhancers	HUVEC	blood vessel
13	chr5:127265800-127266200	Enhancers	HSMM	muscle
14	chr5:127266000-127266400	Weak transcription	NH-A	brain
15	chr5:127266000-127266600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:127266000-127266600	Enhancers	Fetal Thymus	thymus
17	chr5:127266000-127266600	Enhancers	Left Ventricle	heart
18	chr5:127266000-127266600	Enhancers	HMEC	breast
19	chr5:127266000-127266600	Enhancers	Osteobl	bone
20	chr5:127266000-127266800	Enhancers	Stomach Mucosa	stomach
21	chr5:127266000-127266800	Enhancers	HSMMtube	muscle
22	chr5:127266000-127267200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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