Variant report

Variant	rs17198983
Chromosome Location	chr2:190447811-190447812
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]
rs10177654	0.91[EUR][1000 genomes]
rs10188680	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs1123110	0.81[CEU][hapmap]
rs11694919	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12465298	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12619013	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13012833	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347708	0.92[CEU][hapmap];0.95[GIH][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1370593	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1437885	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1439814	0.81[CEU][hapmap]
rs2352267	1.00[CEU][hapmap];0.98[TSI][hapmap];0.94[EUR][1000 genomes]
rs2352270	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6712505	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718734	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6718798	0.96[CEU][hapmap];0.98[TSI][hapmap];0.91[EUR][1000 genomes]
rs6733858	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6741965	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7590106	0.96[CEU][hapmap];0.93[EUR][1000 genomes]

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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190446000-190448200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:190446000-190449400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:190446800-190448400	Enhancers	Primary hematopoietic stem cells	blood
4	chr2:190446800-190450200	Weak transcription	HUVEC	blood vessel
5	chr2:190446800-190450400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:190447000-190448600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr2:190447000-190448600	Weak transcription	Ovary	ovary
8	chr2:190447000-190448600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:190447000-190449600	Weak transcription	Stomach Mucosa	stomach
10	chr2:190447200-190449200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:190447400-190448600	Weak transcription	Liver	Liver
12	chr2:190447400-190448600	Weak transcription	Fetal Intestine Large	intestine
13	chr2:190447400-190449200	Active TSS	K562	blood
14	chr2:190447400-190452200	Weak transcription	Primary T cells from cord blood	blood
15	chr2:190447600-190448600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:190447600-190449400	Enhancers	Dnd41	blood

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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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