Variant report

Variant	rs931465
Chromosome Location	chr4:100556160-100556161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:100555988..100557489-chr4:100560382..100562904,2	K562	blood:
2	chr4:100555207..100557459-chrX:15692074..15694700,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186312	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10516446	0.98[ASN][1000 genomes]
rs11097667	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11097669	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640855	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12643429	0.98[ASN][1000 genomes]
rs12647527	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12648918	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352777	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029104	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17029135	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029142	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17029165	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17029251	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17029277	0.88[ASN][1000 genomes]
rs17029292	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs2298747	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2306984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792681	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[ASN][1000 genomes]
rs3828542	0.81[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.98[ASN][1000 genomes]
rs4235440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4699384	0.89[ASN][1000 genomes]
rs4699385	0.86[ASN][1000 genomes]
rs4699754	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59702776	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61074475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817049	0.87[ASN][1000 genomes]
rs6858032	0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6858700	0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs72906793	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72908710	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72908742	0.91[ASN][1000 genomes]
rs871321	0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs881980	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs956200	0.95[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	nsv933074	chr4:100460951-100630600	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr4:100546000-100561200	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:100552800-100557200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:100553600-100563400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:100553600-100564200	Weak transcription	Left Ventricle	heart
5	chr4:100553600-100564600	Weak transcription	Psoas Muscle	Psoas
6	chr4:100554000-100557200	Enhancers	HMEC	breast
7	chr4:100554400-100556800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:100555200-100556200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr4:100555200-100556200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr4:100556000-100556400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:100556000-100556400	Strong transcription	Fetal Muscle Leg	muscle
12	chr4:100556000-100556800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:100556000-100557000	Enhancers	NHEK	skin

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