Variant report

Variant	rs6729317
Chromosome Location	chr2:12214108-12214109
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11680545	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12993594	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13021784	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1344933	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16858244	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34253770	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34970030	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59362055	0.85[ASN][1000 genomes]
rs72610740	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv999704	chr2:12153766-12243960	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1005069	chr2:12161023-12242734	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000696	chr2:12162843-12241022	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12204600-12214200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:12209600-12214200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:12209600-12214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:12209800-12214800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr2:12210000-12214400	Enhancers	Primary B cells from peripheral blood	blood
6	chr2:12210600-12214200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:12211200-12214200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:12211400-12214600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:12211800-12214600	Weak transcription	NHDF-Ad	bronchial
10	chr2:12212600-12215000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:12213000-12216400	Weak transcription	Primary B cells from cord blood	blood
12	chr2:12213200-12215200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:12213600-12214400	Enhancers	K562	blood
14	chr2:12213600-12215000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:12213600-12215200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:12213600-12216000	Enhancers	Primary hematopoietic stem cells	blood
17	chr2:12213600-12218600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:12213800-12214200	Genic enhancers	GM12878-XiMat	blood
19	chr2:12214000-12216200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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