Variant report

Variant	rs1805723
Chromosome Location	chr12:9142297-9142298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:9141927-9142450	HUVEC	blood vessel:	n/a	n/a
2	GATA2	chr12:9141972-9142615	HUVEC	blood vessel:	n/a	chr12:9142090-9142100
3	JUN	chr12:9141968-9142413	HUVEC	blood vessel:	n/a	n/a
4	SPI1	chr12:9141882-9142373	HL-60	blood:	n/a	chr12:9142106-9142119

Variant related genes	Relation type
KLRG1	TF binding region

Extended variants
information (count: 75 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10842660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842662	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842696	0.87[ASN][1000 genomes]
rs11048190	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048195	0.93[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048264	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11048337	0.93[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048338	0.83[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048344	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048345	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11048434	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.89[ASN][1000 genomes]
rs11494569	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11494570	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11611106	0.89[CEU][hapmap];0.82[GIH][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs12371786	0.81[AMR][1000 genomes]
rs12422905	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12423746	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12423817	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12424026	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12812913	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12816518	0.89[ASN][1000 genomes]
rs12817960	0.89[ASN][1000 genomes]
rs12820395	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12821842	0.83[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12823100	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12824140	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12824212	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]
rs12824380	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12827055	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12827988	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12828902	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12833375	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1476911	0.93[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1805248	0.80[CHB][hapmap];0.82[JPT][hapmap]
rs1805677	0.87[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1805719	0.87[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1805721	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1805722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805724	0.92[CEU][hapmap];0.82[CHB][hapmap];0.87[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805725	0.83[JPT][hapmap]
rs1805727	0.83[JPT][hapmap]
rs1805732	0.93[CEU][hapmap];0.83[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1805733	0.93[CEU][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs1805736	0.93[CEU][hapmap];0.82[GIH][hapmap];0.87[MEX][hapmap];0.83[TSI][hapmap]
rs1805761	0.92[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.80[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805765	0.93[CEU][hapmap];0.80[GIH][hapmap];0.95[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2041624	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2041625	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2080116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080117	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2110190	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2110191	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2110192	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2159961	0.88[CEU][hapmap]
rs2268021	0.89[ASN][1000 genomes]
rs2377672	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2377673	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2377674	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34285491	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34798934	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35870866	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4254119	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4309200	0.83[ASW][hapmap];0.93[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6832	0.92[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];0.81[TSI][hapmap]
rs7300767	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7301381	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7302417	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7314942	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7315055	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7957321	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7971932	0.87[ASN][1000 genomes]
rs933462	0.91[CEU][hapmap];0.82[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs1805723	KLRG1	cis	Adipose Subcutaneous	GTEx
rs1805723	KLRG1	cis	lymphoblastoid	seeQTL
rs1805723	M6PR	cis	cerebellum	SCAN
rs1805723	EMG1	cis	cerebellum	SCAN
rs1805723	KLRG1	cis	multi-tissue	Pritchard
rs1805723	SPSB2	cis	cerebellum	SCAN
rs1805723	TAS2R46	cis	cerebellum	SCAN

Chromatin state (count:36 , 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	chr12:9138000-9143000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:9139200-9144400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr12:9139600-9144600	Weak transcription	Fetal Thymus	thymus
6	chr12:9139800-9143200	Enhancers	GM12878-XiMat	blood
7	chr12:9141600-9142600	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:9141600-9142800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr12:9141600-9145600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:9141800-9142400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr12:9141800-9142800	Enhancers	Primary B cells from cord blood	blood
12	chr12:9141800-9142800	Active TSS	Duodenum Mucosa	Duodenum
13	chr12:9141800-9143000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr12:9141800-9143000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr12:9141800-9144800	Active TSS	Primary T cells fromperipheralblood	blood
16	chr12:9141800-9144800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:9142000-9142400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr12:9142000-9142800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr12:9142200-9142400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:9142200-9142400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:9142200-9142400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:9142200-9142400	Enhancers	Spleen	Spleen
23	chr12:9142200-9142600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr12:9142200-9142600	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr12:9142200-9142800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr12:9142200-9142800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:9142200-9142800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:9142200-9142800	Flanking Active TSS	HUVEC	blood vessel
29	chr12:9142200-9143000	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr12:9142200-9143000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr12:9142200-9143000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:9142200-9143000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr12:9142200-9143000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:9142200-9143000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:9142200-9143000	Active TSS	Right Atrium	heart
36	chr12:9142200-9143200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood

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