Variant report

Variant	rs11048434
Chromosome Location	chr12:9153932-9153933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10400563	0.83[CHB][hapmap]
rs10842660	0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10842662	0.89[ASN][1000 genomes]
rs10842696	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11048195	0.91[JPT][hapmap]
rs11048337	0.91[JPT][hapmap]
rs11048338	0.83[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs11494570	0.82[ASN][1000 genomes]
rs11611106	0.91[MEX][hapmap]
rs12816518	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12817960	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820395	0.89[ASN][1000 genomes]
rs12821842	0.83[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs12823100	0.91[JPT][hapmap]
rs12824140	0.86[ASN][1000 genomes]
rs12824212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824380	0.88[ASN][1000 genomes]
rs12827055	0.86[ASN][1000 genomes]
rs12827988	0.85[ASN][1000 genomes]
rs12828902	0.88[ASN][1000 genomes]
rs1476911	0.87[JPT][hapmap];0.91[MEX][hapmap]
rs17730391	0.84[ASW][hapmap]
rs1805248	0.86[JPT][hapmap]
rs1805672	0.84[ASW][hapmap];0.83[CHD][hapmap]
rs1805673	0.84[ASW][hapmap];0.83[CHD][hapmap]
rs1805676	0.80[CHB][hapmap]
rs1805677	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805721	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1805722	0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1805723	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs1805724	0.91[JPT][hapmap]
rs1805725	0.87[JPT][hapmap]
rs1805727	0.87[JPT][hapmap]
rs1805732	0.87[JPT][hapmap];0.91[MEX][hapmap]
rs1805733	0.87[JPT][hapmap];0.83[MEX][hapmap]
rs1805736	0.83[MEX][hapmap]
rs1805761	0.91[JPT][hapmap];0.83[MEX][hapmap]
rs1805765	0.83[JPT][hapmap];0.91[MEX][hapmap]
rs2080116	0.87[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2080117	0.89[ASN][1000 genomes]
rs2110190	0.86[ASN][1000 genomes]
rs2110191	0.88[ASN][1000 genomes]
rs2110192	0.88[ASN][1000 genomes]
rs2268021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34285491	0.82[ASN][1000 genomes]
rs35870866	0.86[ASN][1000 genomes]
rs4254119	0.81[ASN][1000 genomes]
rs4309200	0.83[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs6832	0.91[JPT][hapmap]
rs7314942	0.86[ASN][1000 genomes]
rs7971932	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs933462	0.95[JPT][hapmap]

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	nsv832327	chr12:9081779-9246220	Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1045317	chr12:9113216-9544655	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	esv2754892	chr12:9136351-9179007	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv521482	chr12:9153146-9153932	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs11048434	KLRG1	cis	lymphoblastoid	seeQTL
rs11048434	SPSB2	cis	cerebellum	SCAN
rs11048434	KLRG1	cis	multi-tissue	Pritchard
rs11048434	M6PR	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9133800-9164600	Weak transcription	Psoas Muscle	Psoas
2	chr12:9133800-9170200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr12:9142400-9168000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:9146400-9161200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:9149400-9155800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:9149600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:9149600-9161000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:9150000-9160800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:9150000-9161000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:9150000-9162000	Weak transcription	Adipose Nuclei	Adipose
11	chr12:9150000-9164000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr12:9150200-9154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:9151200-9155000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:9151600-9155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:9152000-9155800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:9152200-9154000	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:9152200-9154400	Enhancers	Primary T cells from cord blood	blood
18	chr12:9152400-9154000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:9152400-9167600	Weak transcription	Left Ventricle	heart
20	chr12:9152800-9155800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:9153000-9154400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:9153400-9154200	Weak transcription	Spleen	Spleen
23	chr12:9153600-9154000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:9153800-9155600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr12:9153800-9155600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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