Variant report

Variant	rs12037609
Chromosome Location	chr1:95518483-95518484
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:95517202..95518728-chr1:95521625..95524347,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12027212	0.94[ASN][1000 genomes]
rs12028101	1.00[AMR][1000 genomes]
rs12028839	1.00[JPT][hapmap]
rs12030774	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12039495	0.96[ASN][1000 genomes]
rs12040604	1.00[AMR][1000 genomes]
rs12048008	0.87[ASN][1000 genomes]
rs12090360	0.86[JPT][hapmap];0.96[ASN][1000 genomes]

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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3402740	chr1:95500980-95527860	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95488200-95537600	Weak transcription	Right Ventricle	heart
2	chr1:95491600-95529600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:95505600-95537400	Weak transcription	Right Atrium	heart
4	chr1:95506000-95537800	Weak transcription	Pancreas	Pancrea
5	chr1:95506600-95527800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:95509000-95528000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:95509200-95525600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:95509400-95527600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:95509400-95532800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:95509400-95534200	Weak transcription	Fetal Intestine Small	intestine
11	chr1:95509600-95526400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:95514200-95527400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:95514400-95527800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:95514600-95530200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:95515600-95535800	Weak transcription	Fetal Lung	lung
16	chr1:95516000-95526600	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:95516000-95537200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:95516200-95532600	Weak transcription	Brain Anterior Caudate	brain
19	chr1:95516600-95525400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:95517000-95528000	Weak transcription	Liver	Liver
21	chr1:95517400-95537800	Weak transcription	Esophagus	oesophagus
22	chr1:95518000-95537000	Weak transcription	Psoas Muscle	Psoas
23	chr1:95518000-95537200	Weak transcription	HSMM	muscle
24	chr1:95518400-95529400	Weak transcription	Ovary	ovary

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