Variant report

Variant	rs12634330
Chromosome Location	chr3:132931311-132931312
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10935052	0.83[JPT][hapmap]
rs10935053	0.83[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs11920436	0.82[ASN][1000 genomes]
rs12633060	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12637903	0.83[CHB][hapmap]
rs1542255	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2887628	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3953104	0.96[CEU][hapmap];0.91[CHB][hapmap];0.84[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4306857	0.83[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs4308273	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4459903	0.83[CHB][hapmap]
rs62280349	0.82[ASN][1000 genomes]
rs6439392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6791152	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6797056	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6809033	0.83[CHB][hapmap];0.88[JPT][hapmap]
rs7638408	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7644980	1.00[CHB][hapmap];0.83[JPT][hapmap]
rs9968195	0.87[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530055	chr3:132380878-132982343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:132926800-132931800	Weak transcription	Fetal Brain Female	brain
2	chr3:132927800-132931800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr3:132928000-132931600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr3:132928200-132931400	Enhancers	Primary hematopoietic stem cells	blood
5	chr3:132928200-132932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr3:132928600-132932600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr3:132928600-132933200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr3:132928800-132932400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:132928800-132932400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr3:132928800-132932800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:132929000-132931600	Enhancers	Primary B cells from peripheral blood	blood
12	chr3:132929800-132932000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr3:132930200-132932400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr3:132930600-132931600	Enhancers	Primary B cells from cord blood	blood
15	chr3:132930600-132932000	Weak transcription	Brain Anterior Caudate	brain
16	chr3:132930600-132932400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:132930800-132931400	Weak transcription	Fetal Brain Male	brain
18	chr3:132930800-132931600	Enhancers	Fetal Muscle Trunk	muscle
19	chr3:132930800-132931800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:132930800-132931800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:132931000-132931600	Enhancers	GM12878-XiMat	blood
22	chr3:132931000-132931800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:132931000-132932000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:132931000-132932400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:132931000-132932400	Weak transcription	Fetal Lung	lung
26	chr3:132931000-132932800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:132931200-132932200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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