Variant report

Variant	rs2377674
Chromosome Location	chr12:9112761-9112762
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	chr12:9103372..9104890-chr12:9110140..9112943,2	MCF-7	breast:

Extended variants
information (count: 95 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10129061	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs1049925	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1073159	0.80[EUR][1000 genomes]
rs10743568	0.83[ASN][1000 genomes]
rs10771238	0.83[ASN][1000 genomes]
rs10842537	0.82[EUR][1000 genomes]
rs10842660	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10842662	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11047953	0.82[EUR][1000 genomes]
rs11048023	0.86[EUR][1000 genomes]
rs11048190	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048195	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048337	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048338	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048344	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048345	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048434	0.83[CHD][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap]
rs1124402	0.82[EUR][1000 genomes]
rs11494569	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11494570	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11611106	0.96[CEU][hapmap];0.83[GIH][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.82[EUR][1000 genomes]
rs11613650	0.82[EUR][1000 genomes]
rs11614202	0.88[ASN][1000 genomes]
rs12371786	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12422905	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423746	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423817	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424026	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581860	0.82[AMR][1000 genomes]
rs12812913	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12814670	0.82[EUR][1000 genomes]
rs12815310	0.82[EUR][1000 genomes]
rs12820395	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12821842	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12823100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12824140	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12824212	0.83[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap]
rs12824380	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12827055	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12827988	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12828902	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12833375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1476911	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805248	0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1805677	0.82[CHD][hapmap];0.91[JPT][hapmap]
rs1805719	0.91[JPT][hapmap]
rs1805721	0.93[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1805722	0.93[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805723	0.84[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];0.91[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1805724	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805725	0.95[CHB][hapmap];0.82[CHD][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs1805727	0.95[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs1805732	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805733	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1805735	0.91[CHB][hapmap]
rs1805736	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1805737	0.90[EUR][1000 genomes]
rs1805745	0.82[EUR][1000 genomes]
rs1805754	0.95[CHB][hapmap];0.84[CHD][hapmap];0.83[ASN][1000 genomes]
rs1805761	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1805765	1.00[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1805784	0.82[EUR][1000 genomes]
rs2041624	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2041625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080116	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2080117	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2110190	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2110191	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2110192	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2110193	0.82[EUR][1000 genomes]
rs2159961	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs2377671	0.83[ASN][1000 genomes]
rs2377672	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2377673	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34285491	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34798934	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35870866	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4254119	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4309200	0.84[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];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639983	0.95[CHB][hapmap];0.82[ASN][1000 genomes]
rs4883203	0.83[ASN][1000 genomes]
rs6832	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];0.90[TSI][hapmap]
rs7300767	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301381	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7302417	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7303776	0.82[EUR][1000 genomes]
rs7309922	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7314942	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7315055	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7957321	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961355	0.84[ASN][1000 genomes]
rs933462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs987917	0.95[CHB][hapmap];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	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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2377674	KLRG1	cis	lymphoblastoid	seeQTL
rs2377674	KLRG1	cis	multi-tissue	Pritchard
rs2377674	TAS2R46	cis	cerebellum	SCAN
rs2377674	SPSB2	cis	cerebellum	SCAN
rs2377674	KLRG1	cis	Adipose Subcutaneous	GTEx
rs2377674	M6PR	cis	cerebellum	SCAN

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9103400-9116400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:9103600-9114000	Weak transcription	Fetal Kidney	kidney
3	chr12:9103600-9114200	Weak transcription	Aorta	Aorta
4	chr12:9103600-9114400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:9103600-9114600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:9104000-9113200	Weak transcription	HepG2	liver
7	chr12:9104000-9114400	Weak transcription	Psoas Muscle	Psoas
8	chr12:9104600-9113800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr12:9105000-9113600	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:9105000-9113800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr12:9106600-9116000	Weak transcription	Left Ventricle	heart
12	chr12:9106800-9114400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:9106800-9114600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:9107200-9112800	Enhancers	Primary T cells from cord blood	blood
15	chr12:9107200-9112800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:9107400-9112800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:9108600-9115200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:9109000-9113400	Weak transcription	Right Ventricle	heart
19	chr12:9109000-9114600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:9109000-9115600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:9109000-9121600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:9109400-9113800	Enhancers	Fetal Thymus	thymus
23	chr12:9109600-9114800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr12:9110600-9114200	Weak transcription	K562	blood
25	chr12:9111000-9115600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:9111600-9112800	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:9112000-9113600	Enhancers	Thymus	Thymus
28	chr12:9112200-9113000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr12:9112200-9116800	Weak transcription	Pancreas	Pancrea
30	chr12:9112600-9112800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:9112600-9113400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr12:9112600-9113800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr12:9112600-9113800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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