Variant report

Variant	rs4683198
Chromosome Location	chr3:46329278-46329279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46324012..46327012-chr3:46327940..46331563,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10865940	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11130089	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11711054	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11923720	0.83[EUR][1000 genomes]
rs13081845	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13084656	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs13096142	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1388604	0.95[JPT][hapmap]
rs1799865	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1979672	0.85[JPT][hapmap]
rs2097282	0.84[EUR][1000 genomes]
rs2097284	0.82[EUR][1000 genomes]
rs2157057	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2157059	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2213291	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2213292	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3092963	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs3138042	0.82[EUR][1000 genomes]
rs34148191	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34193387	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34505903	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35053103	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35465430	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35675823	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35971655	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36030342	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3918358	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs41276529	0.81[ASN][1000 genomes]
rs4134396	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4683194	0.81[ASN][1000 genomes]
rs4683199	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62244827	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62244840	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62244848	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6441950	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6441953	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6441961	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441962	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6441963	0.90[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.80[TSI][hapmap];0.87[ASN][1000 genomes]
rs6441964	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6441972	0.82[EUR][1000 genomes]
rs6767895	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6771900	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6775208	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6785878	0.82[ASN][1000 genomes]
rs6785981	0.82[EUR][1000 genomes]
rs6788723	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6788849	0.81[ASN][1000 genomes]
rs6793850	0.89[ASN][1000 genomes]
rs6794300	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6802288	0.87[CEU][hapmap];0.81[CHB][hapmap];0.84[JPT][hapmap];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6810232	0.83[ASN][1000 genomes]
rs71615444	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7371987	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs7372094	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7374654	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7374671	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7626249	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7634816	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs963045	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9813756	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9818053	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9839623	0.83[ASN][1000 genomes]
rs9840204	0.81[ASN][1000 genomes]
rs9842716	0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9852052	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9853223	0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs9856098	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9875668	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9877860	0.83[ASN][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4683198	CCR5	trans	multi-tissue	Pritchard

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46318000-46331400	Enhancers	Primary T cells fromperipheralblood	blood
2	chr3:46324400-46331000	Weak transcription	Lung	lung
3	chr3:46324600-46336600	Weak transcription	Gastric	stomach
4	chr3:46326200-46331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:46327200-46329400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:46327200-46337800	Weak transcription	Dnd41	blood
7	chr3:46327600-46330600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr3:46327800-46334800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr3:46328000-46331000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:46328400-46332200	Weak transcription	Fetal Brain Male	brain
11	chr3:46328600-46329400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:46329000-46329400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:46329000-46329400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr3:46329000-46334200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr3:46329200-46329600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:46329200-46330200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:46329200-46330600	Weak transcription	GM12878-XiMat	blood
18	chr3:46329200-46331000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:46329200-46332800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:46329200-46334200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr3:46329200-46338600	Weak transcription	Thymus	Thymus

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