Variant report

Variant	rs12465339
Chromosome Location	chr2:190368358-190368359
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10189190	0.85[ASN][1000 genomes]
rs10202029	1.00[JPT][hapmap]
rs10206543	0.82[CHB][hapmap]
rs11674773	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11677198	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11677494	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11682165	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11685775	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11694976	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1371468	0.82[CHB][hapmap]
rs1371469	0.82[CHB][hapmap]
rs17198934	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs2119070	0.85[ASN][1000 genomes]
rs4277558	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4667285	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62187110	0.94[EUR][1000 genomes]
rs920266	0.96[EUR][1000 genomes];1.00[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	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv875615	chr2:190215527-190444392	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv584062	chr2:190272195-190376493	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3439566	chr2:190364328-190376661	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190365200-190369800	Weak transcription	Small Intestine	intestine
2	chr2:190365400-190371200	Weak transcription	Psoas Muscle	Psoas
3	chr2:190365800-190369800	Weak transcription	HepG2	liver
4	chr2:190366000-190377600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:190366400-190369800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:190366400-190369800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:190366400-190369800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:190366400-190369800	Weak transcription	Fetal Intestine Small	intestine
9	chr2:190366400-190369800	Weak transcription	Stomach Mucosa	stomach
10	chr2:190366400-190369800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:190366800-190371200	Weak transcription	HSMMtube	muscle
12	chr2:190367000-190368400	Enhancers	Fetal Lung	lung
13	chr2:190367000-190378400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr2:190367800-190368800	Enhancers	Fetal Intestine Large	intestine
15	chr2:190367800-190369000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:190368200-190371200	Weak transcription	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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