Variant report

Variant	rs1517681
Chromosome Location	chr2:99371417-99371418
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1016124	0.94[ASN][1000 genomes]
rs10166044	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10174321	0.83[ASN][1000 genomes]
rs10177696	0.89[ASN][1000 genomes]
rs10194177	0.89[ASN][1000 genomes]
rs10200288	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10210711	0.81[ASN][1000 genomes]
rs10496332	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs11123747	0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs11123749	0.94[ASN][1000 genomes]
rs11123751	0.91[CHB][hapmap]
rs11885883	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12471383	0.94[ASN][1000 genomes]
rs12477450	0.91[CHB][hapmap]
rs12615301	0.96[ASN][1000 genomes]
rs12993424	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13391483	0.96[ASN][1000 genomes]
rs1514916	0.89[ASN][1000 genomes]
rs1913621	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2013983	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28783173	0.94[ASN][1000 genomes]
rs34521960	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35477458	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41445250	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs4851150	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4851153	0.85[ASN][1000 genomes]
rs4851154	0.96[ASN][1000 genomes]
rs58666702	0.89[ASN][1000 genomes]
rs6712079	0.82[EUR][1000 genomes]
rs6712597	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6716514	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6740656	0.87[ASN][1000 genomes]
rs7420869	0.89[ASN][1000 genomes]
rs7558236	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs7581128	0.82[CHB][hapmap]
rs7599792	0.93[ASN][1000 genomes]
rs885036	0.81[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv520854	chr2:99369757-99373720	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 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	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
2	chr2:99361400-99374000	Weak transcription	Pancreas	Pancrea
3	chr2:99362400-99372800	Weak transcription	Primary T cells from cord blood	blood
4	chr2:99365200-99372200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:99365400-99371600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:99365400-99372400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:99365600-99373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:99365800-99374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:99366200-99372200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr2:99366600-99373200	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:99367400-99374000	Weak transcription	Esophagus	oesophagus
12	chr2:99369600-99373600	Weak transcription	HUVEC	blood vessel
13	chr2:99370800-99373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:99371000-99371600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:99371000-99373800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr2:99371200-99373800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:99371200-99374000	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:99371400-99372200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr2:99371400-99373600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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