Variant report

Variant	rs12713586
Chromosome Location	chr2:67125849-67125850
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10167484	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs10170124	0.84[ASN][1000 genomes]
rs10171004	0.84[ASN][1000 genomes]
rs10176733	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10177813	0.90[CHB][hapmap]
rs10183135	0.88[ASN][1000 genomes]
rs10186923	0.91[CHB][hapmap]
rs10190086	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10196555	0.85[AFR][1000 genomes]
rs10197753	0.91[CHB][hapmap]
rs10496137	0.94[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11677614	0.83[ASN][1000 genomes]
rs12713575	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12713576	0.90[CHB][hapmap]
rs12713578	0.84[ASN][1000 genomes]
rs12713581	0.85[AFR][1000 genomes]
rs12713584	0.83[ASN][1000 genomes]
rs12713585	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];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12713588	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12995173	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12997959	0.83[ASN][1000 genomes]
rs12998082	0.81[ASN][1000 genomes]
rs13009433	0.86[ASN][1000 genomes]
rs13015121	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13020124	0.85[ASN][1000 genomes]
rs13032699	0.81[ASN][1000 genomes]
rs13387078	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13416909	0.83[ASN][1000 genomes]
rs1559602	0.85[ASN][1000 genomes]
rs17632177	0.85[ASN][1000 genomes]
rs2113769	0.88[ASN][1000 genomes]
rs2161975	0.81[ASN][1000 genomes]
rs2194660	0.84[ASN][1000 genomes]
rs2194663	0.81[ASN][1000 genomes]
rs2861285	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35156489	0.85[ASN][1000 genomes]
rs4671161	0.91[CHB][hapmap]
rs4671755	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4671756	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap]
rs6546272	0.88[YRI][hapmap]
rs6715872	0.85[ASN][1000 genomes]
rs6728659	0.81[ASN][1000 genomes]
rs6728760	0.81[ASN][1000 genomes]
rs7601449	0.81[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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67123200-67126200	Enhancers	Fetal Lung	lung
2	chr2:67123400-67126000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:67123400-67126200	Enhancers	Fetal Stomach	stomach
4	chr2:67123600-67126600	Enhancers	HSMMtube	muscle
5	chr2:67123800-67127000	Enhancers	Rectal Smooth Muscle	rectum
6	chr2:67124000-67126800	Enhancers	NHLF	lung
7	chr2:67124200-67127200	Enhancers	Colon Smooth Muscle	Colon
8	chr2:67124400-67126200	Enhancers	Stomach Smooth Muscle	stomach
9	chr2:67124600-67128400	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:67124800-67128200	Weak transcription	Fetal Heart	heart
11	chr2:67124800-67128400	Weak transcription	Fetal Kidney	kidney
12	chr2:67125400-67126000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr2:67125400-67126200	Weak transcription	NH-A	brain
14	chr2:67125600-67126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:67125600-67128600	Weak transcription	Ovary	ovary
16	chr2:67125600-67128800	Weak transcription	NHDF-Ad	bronchial
17	chr2:67125800-67126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:67125800-67126200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:67125800-67128400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:67125800-67128600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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