Variant report

Variant	rs12640230
Chromosome Location	chr4:86970749-86970750
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12642872	0.96[ASN][1000 genomes]
rs12642887	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12643642	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1436522	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2043648	0.87[ASN][1000 genomes]
rs2043649	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs2043650	0.87[ASN][1000 genomes]
rs2282595	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3755971	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3775164	0.96[ASN][1000 genomes]
rs3775166	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775168	0.88[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3775169	0.87[ASN][1000 genomes]
rs3775172	0.96[ASN][1000 genomes]
rs3775175	1.00[ASN][1000 genomes]
rs3775176	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs3775180	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3775185	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3822035	0.96[ASN][1000 genomes]
rs3822036	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4382028	0.91[ASN][1000 genomes]
rs4479697	0.87[ASN][1000 genomes]
rs55663953	0.98[ASN][1000 genomes]
rs58418821	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59198932	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs59693882	1.00[ASN][1000 genomes]
rs59784739	0.94[ASN][1000 genomes]
rs60726298	1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6531890	0.87[ASN][1000 genomes]
rs6856450	0.87[ASN][1000 genomes]
rs7691896	0.87[ASN][1000 genomes]
rs7692516	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009622	chr4:86893536-87119153	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1003585	chr4:86957967-87250436	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv998531	chr4:86966103-86980077	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv511259	chr4:86966327-86983232	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1004688	chr4:86970230-86983232	Weak transcription Enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86916800-86985400	Weak transcription	Ovary	ovary
2	chr4:86936000-86975600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:86936400-86990600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:86949200-86988600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:86955000-86985000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr4:86955200-86971000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:86955200-87003800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:86958200-86975600	Weak transcription	Fetal Brain Female	brain
9	chr4:86958400-86992600	Weak transcription	Fetal Kidney	kidney
10	chr4:86961200-86979400	Weak transcription	Fetal Stomach	stomach
11	chr4:86961200-86981000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:86963600-86974400	Weak transcription	Fetal Lung	lung
13	chr4:86963600-86988800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:86965200-86976200	Weak transcription	Brain Anterior Caudate	brain
15	chr4:86965200-86985800	Weak transcription	Adipose Nuclei	Adipose
16	chr4:86965200-86987000	Weak transcription	Brain Substantia Nigra	brain
17	chr4:86967200-86971200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:86969000-86972000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:86969200-86972600	Enhancers	HMEC	breast
20	chr4:86969800-86971400	Weak transcription	NHEK	skin
21	chr4:86969800-86971600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:86970000-86970800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:86970000-86988400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:86970200-86977000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:86970400-86975400	Weak transcription	NHDF-Ad	bronchial
26	chr4:86970400-86975600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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