Variant report

Variant	rs6810232
Chromosome Location	chr3:46326604-46326605
allele	C/T
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: 61 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs13081325	0.89[EUR][1000 genomes]
rs13084656	0.90[JPT][hapmap]
rs13096142	0.90[JPT][hapmap];0.86[MEX][hapmap]
rs1388604	0.87[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1979672	0.88[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap];0.84[MEX][hapmap];0.85[ASN][1000 genomes]
rs2040389	0.84[EUR][1000 genomes]
rs2040390	0.83[EUR][1000 genomes]
rs2097283	0.83[EUR][1000 genomes]
rs2157058	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187669	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2187670	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2213288	0.83[EUR][1000 genomes]
rs3092962	0.81[MEX][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs3092964	0.80[EUR][1000 genomes]
rs34708505	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34997146	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35510257	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36048784	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36118141	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3762823	0.81[MEX][hapmap];0.84[TSI][hapmap];0.80[EUR][1000 genomes]
rs3918359	0.80[EUR][1000 genomes]
rs3918361	0.80[EUR][1000 genomes]
rs41276529	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs41418050	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41502550	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4682812	0.99[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683194	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683198	0.83[ASN][1000 genomes]
rs4683199	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683211	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4683215	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4683218	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62244813	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441953	0.83[ASN][1000 genomes]
rs6441958	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441959	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441960	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6441963	0.90[JPT][hapmap]
rs6441968	0.82[EUR][1000 genomes]
rs6441971	0.81[MEX][hapmap];0.84[TSI][hapmap]
rs67450950	0.80[EUR][1000 genomes]
rs6765031	0.80[EUR][1000 genomes]
rs6783993	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6788849	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6801761	0.82[EUR][1000 genomes]
rs71327045	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71615444	0.81[ASN][1000 genomes]
rs7371987	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7432080	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs743660	0.81[MEX][hapmap];0.84[TSI][hapmap]
rs7612940	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7635588	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650093	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs768539	0.80[EUR][1000 genomes]
rs9839623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9842716	0.90[JPT][hapmap]
rs9853223	0.90[JPT][hapmap]
rs9877860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs6810232	SS18L2	cis	parietal	SCAN
rs6810232	RBM5	cis	parietal	SCAN
rs6810232	KLHL18	cis	parietal	SCAN
rs6810232	CXCR6	cis	parietal	SCAN
rs6810232	ABHD5	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46317600-46329200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:46317800-46329200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:46318000-46331400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr3:46318800-46327000	Weak transcription	Spleen	Spleen
5	chr3:46321400-46327800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr3:46322200-46329200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:46323000-46327600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr3:46323000-46328000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr3:46323000-46328200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr3:46323000-46329200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:46323400-46327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr3:46323800-46328000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr3:46324000-46327200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:46324200-46327200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:46324400-46331000	Weak transcription	Lung	lung
16	chr3:46324600-46336600	Weak transcription	Gastric	stomach
17	chr3:46324800-46326800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr3:46324800-46327000	Enhancers	Primary T cells from cord blood	blood
19	chr3:46325000-46326800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:46325000-46327000	Weak transcription	GM12878-XiMat	blood
21	chr3:46326200-46327000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:46326200-46331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr3:46326400-46327200	Enhancers	Dnd41	blood

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