Variant report

Variant	rs4693152
Chromosome Location	chr4:87742688-87742689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:87742346..87743864-chr4:87744920..87747227,2	K562	blood:
2	chr4:87742453..87745075-chr4:87812313..87813900,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163633	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10012566	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10019950	0.82[EUR][1000 genomes]
rs1035191	0.87[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs10516778	0.85[JPT][hapmap]
rs11561681	0.83[ASN][1000 genomes]
rs11930396	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12171458	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12503659	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12510802	0.82[EUR][1000 genomes]
rs13113689	0.87[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs1420621	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs17012072	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs17420607	0.85[JPT][hapmap]
rs17420966	0.88[JPT][hapmap]
rs17694112	0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs2006842	0.87[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs2054592	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2054593	0.87[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs2287147	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs3775236	0.87[CEU][hapmap];0.90[JPT][hapmap];0.82[EUR][1000 genomes]
rs3775239	0.82[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs4693780	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4693784	0.91[ASN][1000 genomes]
rs55670248	0.91[ASN][1000 genomes]
rs72665795	0.93[ASN][1000 genomes]
rs7658220	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7688019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9307026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs969734	0.85[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	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv830001	chr4:87585278-87748643	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87712600-87751400	Weak transcription	Aorta	Aorta
2	chr4:87731200-87756000	Weak transcription	Pancreas	Pancrea
3	chr4:87732400-87760000	Weak transcription	Psoas Muscle	Psoas
4	chr4:87737400-87743600	Weak transcription	Brain Anterior Caudate	brain
5	chr4:87737400-87744200	Weak transcription	Left Ventricle	heart
6	chr4:87737600-87744600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr4:87737600-87746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:87737600-87752600	Weak transcription	Esophagus	oesophagus
9	chr4:87737800-87754800	Weak transcription	Brain Hippocampus Middle	brain
10	chr4:87738000-87743000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:87738200-87746800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:87738200-87752000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:87738400-87743200	Weak transcription	Adipose Nuclei	Adipose
14	chr4:87738400-87744600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:87738400-87744800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:87738400-87746400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:87738600-87743400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:87739600-87743200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:87739800-87743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:87739800-87757600	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr4:87740200-87755200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:87740400-87752000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:87741200-87752200	Weak transcription	Fetal Lung	lung
24	chr4:87741400-87744800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:87742400-87746400	Strong transcription	NHEK	skin

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