Variant report

Variant	rs12612608
Chromosome Location	chr2:153371471-153371472
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153321826..153323779-chr2:153369568..153371880,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10168793	0.83[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10172230	0.91[JPT][hapmap]
rs10182254	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10188611	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10207275	0.81[CHB][hapmap]
rs10209069	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10211164	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10931154	0.84[ASN][1000 genomes]
rs11904088	0.92[ASN][1000 genomes]
rs12613219	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12619679	0.92[ASN][1000 genomes]
rs12619706	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622731	0.84[ASN][1000 genomes]
rs13404703	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427485	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831261	0.82[CHB][hapmap]
rs16831307	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2346182	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2459776	0.81[CHB][hapmap]
rs2577180	0.81[CHB][hapmap]
rs2577181	0.81[CHB][hapmap]
rs2577182	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4664592	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4664593	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7581544	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591606	0.86[CHB][hapmap]
rs893331	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9288108	0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9967814	0.82[CHB][hapmap]

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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
2	chr2:153361000-153398600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:153362400-153379400	Weak transcription	Fetal Brain Male	brain
4	chr2:153365000-153377600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:153365400-153377200	Weak transcription	Small Intestine	intestine
6	chr2:153365600-153375200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:153365600-153386000	Weak transcription	Fetal Stomach	stomach
8	chr2:153368400-153374600	Enhancers	Brain Substantia Nigra	brain
9	chr2:153368600-153375200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:153369200-153372600	Enhancers	Brain Angular Gyrus	brain
11	chr2:153369600-153372400	Enhancers	Brain Anterior Caudate	brain
12	chr2:153369800-153372200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:153369800-153372200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:153370400-153375200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:153370400-153375400	Weak transcription	NH-A	brain
16	chr2:153370600-153374400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:153370600-153374400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:153370600-153375000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:153370600-153375200	Weak transcription	Aorta	Aorta
20	chr2:153370600-153375200	Weak transcription	Fetal Muscle Leg	muscle
21	chr2:153370600-153375600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:153370800-153373800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:153370800-153373800	Weak transcription	NHEK	skin
24	chr2:153370800-153374200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:153370800-153375200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:153370800-153375800	Weak transcription	Osteobl	bone
27	chr2:153371000-153374200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:153371000-153374400	Weak transcription	HMEC	breast
29	chr2:153371000-153374600	Weak transcription	A549	lung
30	chr2:153371000-153375200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:153371000-153375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:153371000-153379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:153371400-153371600	Enhancers	Psoas Muscle	Psoas

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