Variant report

Variant	rs60010629
Chromosome Location	chr2:187389684-187389685
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	chr2:187388812..187391488-chr2:187392591..187395983,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10469728	0.88[ASN][1000 genomes]
rs12614328	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13397032	0.88[ASN][1000 genomes]
rs62197706	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62197741	0.82[EUR][1000 genomes]
rs6434185	0.84[ASN][1000 genomes]
rs6710788	0.87[ASN][1000 genomes]
rs7608799	0.84[ASN][1000 genomes]
rs9288130	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187363000-187408800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:187363200-187397600	Weak transcription	Small Intestine	intestine
3	chr2:187367200-187396800	Weak transcription	Gastric	stomach
4	chr2:187367200-187405800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:187371000-187395800	Weak transcription	Fetal Heart	heart
6	chr2:187371000-187407800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:187372200-187390000	Weak transcription	Fetal Brain Male	brain
8	chr2:187373600-187395800	Weak transcription	HSMMtube	muscle
9	chr2:187373600-187397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:187373800-187390200	Weak transcription	Brain Anterior Caudate	brain
11	chr2:187374400-187389800	Weak transcription	Brain Germinal Matrix	brain
12	chr2:187374400-187396200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:187374400-187398800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:187377200-187397200	Weak transcription	HUVEC	blood vessel
15	chr2:187379000-187397400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:187381800-187406600	Weak transcription	NHEK	skin
17	chr2:187383000-187397000	Weak transcription	K562	blood
18	chr2:187383400-187397600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:187384200-187397800	Weak transcription	A549	lung
20	chr2:187386200-187392600	Weak transcription	Thymus	Thymus
21	chr2:187386200-187395800	Weak transcription	NH-A	brain
22	chr2:187386200-187397000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:187386200-187397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:187386200-187398400	Weak transcription	Liver	Liver
25	chr2:187386200-187405200	Weak transcription	HSMM	muscle
26	chr2:187386200-187408000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:187386400-187390200	Weak transcription	Fetal Intestine Large	intestine
28	chr2:187386800-187390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:187386800-187390600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr2:187386800-187392000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:187386800-187397400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:187386800-187397400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr2:187386800-187397600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:187387000-187390800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:187387000-187395600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:187387200-187391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:187387200-187397400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:187387400-187397600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:187388000-187399000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:187389400-187396200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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