Variant report

Variant	rs3087622
Chromosome Location	chr4:15483288-15483289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:15481667..15484454-chr4:15772642..15775403,2	MCF-7	breast:
2	chr4:15475920..15478825-chr4:15482712..15485003,2	MCF-7	breast:
3	chr4:15480883..15483744-chr4:15651050..15653259,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1058412	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10939619	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11722737	1.00[ASN][1000 genomes]
rs11728225	1.00[ASN][1000 genomes]
rs11728800	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11737539	0.83[ASN][1000 genomes]
rs12500458	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13118306	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13131700	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16892040	0.89[ASN][1000 genomes]
rs17469704	0.83[ASN][1000 genomes]
rs2080176	0.82[EUR][1000 genomes]
rs2080177	0.83[EUR][1000 genomes]
rs2110362	0.83[ASN][1000 genomes]
rs2314588	0.83[ASN][1000 genomes]
rs2314590	0.83[ASN][1000 genomes]
rs33998592	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34465372	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4063953	0.84[EUR][1000 genomes]
rs4140933	0.83[EUR][1000 genomes]
rs4140934	0.84[EUR][1000 genomes]
rs4698112	0.84[EUR][1000 genomes]
rs4698387	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4698395	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6810461	0.84[EUR][1000 genomes]
rs7675761	0.80[AMR][1000 genomes]
rs9993748	0.84[EUR][1000 genomes]
rs9998686	0.83[EUR][1000 genomes]
rs9998697	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15481200-15485200	Weak transcription	Right Ventricle	heart
2	chr4:15481400-15486200	Weak transcription	Spleen	Spleen
3	chr4:15481600-15484000	Weak transcription	Aorta	Aorta
4	chr4:15481600-15484200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:15481600-15484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:15481600-15484400	Weak transcription	Placenta	Placenta
7	chr4:15481600-15484400	Weak transcription	K562	blood
8	chr4:15481600-15484600	Weak transcription	Right Atrium	heart
9	chr4:15481600-15488000	Weak transcription	HSMMtube	muscle
10	chr4:15481600-15490200	Weak transcription	Esophagus	oesophagus
11	chr4:15481600-15498600	Weak transcription	Liver	Liver
12	chr4:15481600-15519000	Weak transcription	Gastric	stomach
13	chr4:15481800-15484000	Weak transcription	Ovary	ovary
14	chr4:15481800-15488200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr4:15482000-15484000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr4:15482000-15484200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:15482000-15485400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:15482000-15486400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:15482000-15486600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:15482000-15487000	Weak transcription	HSMM	muscle
21	chr4:15482000-15487600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr4:15482000-15489600	Weak transcription	Brain Substantia Nigra	brain
23	chr4:15482000-15491000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:15482000-15491800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:15482200-15484000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:15482200-15484600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:15482200-15484600	Weak transcription	NHEK	skin
28	chr4:15482200-15485000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:15482200-15485000	Strong transcription	Fetal Intestine Small	intestine
30	chr4:15482200-15486200	Strong transcription	Fetal Stomach	stomach
31	chr4:15482200-15486400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr4:15482200-15486600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr4:15482200-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:15482200-15490400	Weak transcription	A549	lung
35	chr4:15482200-15519800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr4:15482400-15483400	Strong transcription	Lung	lung
37	chr4:15482400-15483400	Weak transcription	NHDF-Ad	bronchial
38	chr4:15482400-15483600	Weak transcription	Brain Hippocampus Middle	brain
39	chr4:15482400-15484600	Weak transcription	Fetal Brain Female	brain
40	chr4:15482400-15484800	Weak transcription	Fetal Lung	lung
41	chr4:15482400-15485000	Strong transcription	Fetal Intestine Large	intestine
42	chr4:15482400-15485200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:15482400-15485200	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:15482400-15485600	Weak transcription	HepG2	liver
45	chr4:15482400-15486000	Weak transcription	Brain Anterior Caudate	brain
46	chr4:15482400-15486200	Strong transcription	Left Ventricle	heart
47	chr4:15482400-15486800	Weak transcription	Fetal Brain Male	brain
48	chr4:15482400-15489600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:15482600-15483400	Weak transcription	Brain Germinal Matrix	brain
50	chr4:15482600-15483400	Weak transcription	NHLF	lung

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