Variant report

Variant	rs12491165
Chromosome Location	chr3:119933959-119933960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10804551	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10934526	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10934527	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1105219	1.00[CEU][hapmap]
rs1118199	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[ASN][1000 genomes]
rs11705881	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap]
rs12635156	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12638442	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1388754	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[ASN][1000 genomes]
rs1602613	0.82[ASN][1000 genomes]
rs16830894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2319544	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2319669	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs2319672	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs28735732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6771865	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.83[ASN][1000 genomes]
rs6774960	0.80[JPT][hapmap]
rs7633690	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9816153	0.85[JPT][hapmap]
rs9833127	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9843220	0.80[JPT][hapmap]
rs9849695	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap]
rs9858897	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9877813	0.82[CHB][hapmap]
rs9878040	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv877376	chr3:119824037-120119446	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119931200-119934400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr3:119932400-119934000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr3:119932400-119934200	Enhancers	Ovary	ovary
4	chr3:119932800-119934000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr3:119932800-119934000	Enhancers	Hela-S3	cervix
6	chr3:119932800-119934000	Enhancers	HSMMtube	muscle
7	chr3:119932800-119934200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:119932800-119934200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr3:119932800-119934400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:119932800-119934400	Enhancers	HSMM	muscle
11	chr3:119932800-119934800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr3:119933000-119934200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:119933000-119934800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:119933000-119934800	Enhancers	Fetal Muscle Leg	muscle
15	chr3:119933000-119934800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:119933000-119943200	Weak transcription	Psoas Muscle	Psoas
17	chr3:119933200-119934200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:119933200-119934600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:119933400-119934000	Enhancers	Fetal Kidney	kidney
20	chr3:119933600-119934000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:119933600-119934000	Flanking Active TSS	Brain Germinal Matrix	brain
22	chr3:119933600-119934800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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