Variant report

Variant	rs12495750
Chromosome Location	chr3:79052482-79052483
allele	G/T
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:35)

rs_ID	r²[population]
rs11127638	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11923198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13096526	1.00[CHD][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs1349022	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs1349023	1.00[EUR][1000 genomes]
rs1349024	1.00[EUR][1000 genomes]
rs1374883	1.00[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1374885	0.86[EUR][1000 genomes]
rs1374886	0.90[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1374887	1.00[EUR][1000 genomes]
rs1374888	1.00[EUR][1000 genomes]
rs1374889	1.00[EUR][1000 genomes]
rs1550930	1.00[CHD][hapmap]
rs1900663	0.86[EUR][1000 genomes]
rs1947154	1.00[EUR][1000 genomes]
rs2871747	1.00[EUR][1000 genomes]
rs4068897	0.84[ASW][hapmap]
rs4327350	1.00[AMR][1000 genomes]
rs4680946	0.86[EUR][1000 genomes]
rs4680953	1.00[ASW][hapmap]
rs61586777	0.86[EUR][1000 genomes]
rs6548603	1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6548604	0.86[EUR][1000 genomes]
rs6548605	0.86[EUR][1000 genomes]
rs6548606	0.86[EUR][1000 genomes]
rs6774082	1.00[EUR][1000 genomes]
rs6788693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6795076	1.00[CHD][hapmap]
rs6797152	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs6804234	0.86[EUR][1000 genomes]
rs7625043	0.86[EUR][1000 genomes]
rs7628994	1.00[ASW][hapmap]
rs7646169	1.00[EUR][1000 genomes]
rs9845900	1.00[EUR][1000 genomes]
rs9863662	0.84[ASW][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	nsv1010804	chr3:78739648-79087470	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv834744	chr3:78911545-79076470	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:79040800-79062000	Weak transcription	Ovary	ovary
2	chr3:79044600-79053800	Weak transcription	Brain Germinal Matrix	brain
3	chr3:79044600-79061600	Weak transcription	Fetal Kidney	kidney
4	chr3:79044800-79064600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:79048000-79053000	Weak transcription	HepG2	liver
6	chr3:79048200-79054200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:79048800-79052800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:79051200-79053200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr3:79051200-79053200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:79051600-79052800	Enhancers	Fetal Lung	lung
11	chr3:79051600-79054400	Enhancers	Brain Hippocampus Middle	brain
12	chr3:79051800-79052800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:79051800-79053200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr3:79051800-79054600	Enhancers	Brain Substantia Nigra	brain
15	chr3:79052000-79052800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr3:79052000-79053200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:79052000-79053200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr3:79052000-79059000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr3:79052200-79052600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr3:79052200-79053000	Weak transcription	Brain Angular Gyrus	brain
21	chr3:79052200-79053400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:79052200-79053400	Weak transcription	NHDF-Ad	bronchial
23	chr3:79052200-79053600	Weak transcription	Brain Anterior Caudate	brain
24	chr3:79052200-79053600	Weak transcription	Fetal Brain Female	brain
25	chr3:79052200-79053600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr3:79052200-79053800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr3:79052400-79053800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:79052400-79054200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:79052400-79054200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr3:79052400-79056400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:79052400-79057000	Weak transcription	Fetal Brain Male	brain

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