Variant report

Variant	rs3761430
Chromosome Location	chr22:31538002-31538003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:31367419..31370310-chr22:31536791..31539101,2	MCF-7	breast:
2	chr22:31537492..31539345-chr22:31541481..31543024,2	K562	blood:
3	chr22:31491384..31493577-chr22:31536978..31538915,3	K562	blood:
4	chr22:31537984..31540671-chr22:31548834..31552374,3	K562	blood:

Variant related genes	Relation type
ENSG00000253352	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11089493	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs16989519	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs17820958	0.86[JPT][hapmap]
rs2057951	0.86[JPT][hapmap]
rs2073856	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs2073859	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2073860	0.86[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap]
rs2073861	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2074734	0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2232173	0.97[EUR][1000 genomes]
rs2240424	0.86[JPT][hapmap]
rs2267168	0.90[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs2283882	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs2413028	0.82[ASN][1000 genomes]
rs3827331	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4364102	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5749222	0.80[JPT][hapmap]
rs5749225	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs5749236	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs5749240	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs5749252	0.85[CHB][hapmap];0.91[JPT][hapmap]
rs5749255	0.86[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs5753485	0.95[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs5753494	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs5753495	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs5753509	0.82[CHB][hapmap]
rs5753511	0.90[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap]
rs5753516	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs5753519	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs5753525	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs5753526	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs5753527	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs5753535	0.90[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap]
rs5753566	0.86[CHB][hapmap];0.80[CHD][hapmap];0.91[JPT][hapmap]
rs5997921	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs62237366	0.97[EUR][1000 genomes]
rs713619	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7286926	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7292620	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs8135417	0.81[JPT][hapmap]
rs874356	0.81[JPT][hapmap]
rs9619178	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs9621212	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[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	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 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	chr22:31520400-31538800	Weak transcription	Right Atrium	heart
2	chr22:31530400-31538400	Weak transcription	Left Ventricle	heart
3	chr22:31536200-31540800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:31536600-31538800	Weak transcription	Brain Anterior Caudate	brain
5	chr22:31536600-31538800	Weak transcription	Right Ventricle	heart
6	chr22:31536600-31539800	Enhancers	Esophagus	oesophagus
7	chr22:31536600-31540600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr22:31537000-31538800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr22:31537200-31538800	Weak transcription	Brain Hippocampus Middle	brain
10	chr22:31537400-31540000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr22:31537600-31538200	Enhancers	NHEK	skin
12	chr22:31538000-31538200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:31538000-31538800	Enhancers	HMEC	breast

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