Variant report

Variant	rs12713585
Chromosome Location	chr2:67124252-67124253
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10167484	0.82[CHB][hapmap];0.85[JPT][hapmap];0.87[ASN][1000 genomes]
rs10170124	0.82[ASN][1000 genomes]
rs10171004	0.83[ASN][1000 genomes]
rs10176733	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10177813	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10183135	0.87[ASN][1000 genomes]
rs10186923	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10190086	0.90[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10196555	0.85[AFR][1000 genomes]
rs10197753	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs10496137	0.94[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11677614	0.87[ASN][1000 genomes]
rs12713575	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12713576	0.82[CHB][hapmap]
rs12713578	0.82[ASN][1000 genomes]
rs12713581	0.85[AFR][1000 genomes]
rs12713584	0.87[ASN][1000 genomes]
rs12713586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713587	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12713588	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12995173	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12997959	0.87[ASN][1000 genomes]
rs12998082	0.85[ASN][1000 genomes]
rs13009433	0.85[ASN][1000 genomes]
rs13015121	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13020124	0.84[ASN][1000 genomes]
rs13387078	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13416909	0.87[ASN][1000 genomes]
rs1559602	0.84[ASN][1000 genomes]
rs17632177	0.84[ASN][1000 genomes]
rs2113769	0.87[ASN][1000 genomes]
rs2194660	0.83[ASN][1000 genomes]
rs2861285	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35156489	0.84[ASN][1000 genomes]
rs4671161	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4671755	0.91[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4671756	0.81[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap]
rs6546272	0.88[YRI][hapmap]
rs6715872	0.84[ASN][1000 genomes]
rs7594571	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874247	chr2:67105342-67141322	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	esv2762259	chr2:67109728-67165987	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67116200-67125200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:67122600-67124800	Enhancers	Fetal Heart	heart
3	chr2:67123000-67125800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:67123200-67124600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:67123200-67125800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:67123200-67126200	Enhancers	Fetal Lung	lung
7	chr2:67123400-67126000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:67123400-67126200	Enhancers	Fetal Stomach	stomach
9	chr2:67123600-67125800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:67123600-67126600	Enhancers	HSMMtube	muscle
11	chr2:67123800-67125400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr2:67123800-67125600	Enhancers	HSMM	muscle
13	chr2:67123800-67125600	Enhancers	NHDF-Ad	bronchial
14	chr2:67123800-67127000	Enhancers	Rectal Smooth Muscle	rectum
15	chr2:67124000-67124600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:67124000-67124800	Enhancers	Fetal Kidney	kidney
17	chr2:67124000-67125600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:67124000-67125800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:67124000-67126800	Enhancers	NHLF	lung
20	chr2:67124200-67124400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:67124200-67124600	Enhancers	H9 Cell Line	embryonic stem cell
22	chr2:67124200-67124600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr2:67124200-67124600	Enhancers	Brain Substantia Nigra	brain
24	chr2:67124200-67124600	Enhancers	Fetal Muscle Leg	muscle
25	chr2:67124200-67124600	Enhancers	Gastric	stomach
26	chr2:67124200-67124600	Enhancers	Pancreas	Pancrea
27	chr2:67124200-67124600	Enhancers	Right Atrium	heart
28	chr2:67124200-67124600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr2:67124200-67124800	Enhancers	Osteobl	bone
30	chr2:67124200-67125000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:67124200-67125000	Enhancers	Ovary	ovary
32	chr2:67124200-67125200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:67124200-67125400	Enhancers	Brain Germinal Matrix	brain
34	chr2:67124200-67125400	Enhancers	NH-A	brain
35	chr2:67124200-67125800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr2:67124200-67127200	Enhancers	Colon Smooth Muscle	Colon

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