Variant report

Variant	rs2237668
Chromosome Location	chr7:107050209-107050210
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	chr7:107042056..107044075-chr7:107048262..107050371,2	K562	blood:

Extended variants
information (count: 115 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1015411	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs10224503	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10234355	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10243340	0.82[ASN][1000 genomes]
rs10245210	0.82[ASN][1000 genomes]
rs10258385	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs10264412	0.86[AMR][1000 genomes]
rs10267907	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs10276604	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs10281535	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs11535285	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11977187	0.83[ASW][hapmap];0.89[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap]
rs12112877	0.83[ASN][1000 genomes]
rs12667527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs12672451	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs12673675	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs13230144	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1544336	0.83[ASN][1000 genomes]
rs17153981	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17154040	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17154077	0.80[ASN][1000 genomes]
rs17154091	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17154104	0.82[ASN][1000 genomes]
rs1858888	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2023685	0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs2057837	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs2066735	1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2107317	1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs2107713	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2237661	0.95[CEU][hapmap]
rs2237665	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2237670	0.80[ASN][1000 genomes]
rs2237671	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2237672	0.80[ASN][1000 genomes]
rs2237673	0.80[ASN][1000 genomes]
rs2237677	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2237678	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes]
rs2253146	1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2253269	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2253271	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2253833	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.94[TSI][hapmap]
rs2395868	0.90[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2395869	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2395882	0.84[ASN][1000 genomes]
rs2395883	0.82[ASN][1000 genomes]
rs2520241	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2520242	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2520243	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2520245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2520249	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2520250	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2520256	0.87[AMR][1000 genomes]
rs2520268	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2520269	0.83[ASW][hapmap];0.93[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs2712195	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2712196	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2712197	0.80[ASN][1000 genomes]
rs2712199	0.80[ASN][1000 genomes]
rs2712201	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2712224	0.84[AMR][1000 genomes]
rs28687365	0.82[ASN][1000 genomes]
rs28714607	0.82[ASN][1000 genomes]
rs3094383	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34325395	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3801948	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs3801954	0.81[ASN][1000 genomes]
rs4727678	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4727679	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4727680	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4727681	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4727684	0.94[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap]
rs4730235	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4730237	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4730238	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730245	0.93[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs57452492	0.82[ASN][1000 genomes]
rs58391518	0.94[ASN][1000 genomes]
rs62482493	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62482495	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62482499	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62482502	0.92[ASN][1000 genomes]
rs62482503	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62482507	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62482543	0.85[ASN][1000 genomes]
rs62483633	0.80[EUR][1000 genomes]
rs62483634	0.80[EUR][1000 genomes]
rs62483640	0.83[EUR][1000 genomes]
rs62483641	0.83[EUR][1000 genomes]
rs62483725	0.82[AMR][1000 genomes]
rs67982599	0.82[ASN][1000 genomes]
rs6949634	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6976607	0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap]
rs7777950	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7778250	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7778270	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs7782057	0.82[ASN][1000 genomes]
rs7785892	0.94[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7786801	0.84[ASN][1000 genomes]
rs7788271	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7788330	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7790080	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7803102	0.94[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap]
rs7803151	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9791733	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs982447	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs986994	0.91[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs987391	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	esv1825788	chr7:106897237-107136320	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1024793	chr7:106900877-107170312	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv608073	chr7:106960515-107063686	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv1832266	chr7:106961882-107136320	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1019963	chr7:107033342-107188641	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv539052	chr7:107033342-107188641	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2237668	COG5	cis	parietal	SCAN
rs2237668	C7orf66	cis	cerebellum	SCAN
rs2237668	PRKAR2B	cis	cerebellum	SCAN
rs2237668	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107001400-107053600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:107022200-107053000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:107027400-107053400	Weak transcription	Gastric	stomach
4	chr7:107027800-107086800	Weak transcription	Aorta	Aorta
5	chr7:107028000-107052800	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:107028000-107054400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:107028200-107053000	Weak transcription	Fetal Stomach	stomach
8	chr7:107028200-107082400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:107028200-107103800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:107028800-107053000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:107028800-107053200	Weak transcription	K562	blood
12	chr7:107029400-107050400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:107031600-107069600	Weak transcription	Fetal Kidney	kidney
14	chr7:107032400-107068000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:107033800-107069800	Weak transcription	Small Intestine	intestine
16	chr7:107034000-107055600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:107035800-107052800	Weak transcription	HSMMtube	muscle
18	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:107036000-107050800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:107036200-107051000	Weak transcription	Liver	Liver
21	chr7:107036800-107069800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:107037000-107053200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr7:107037000-107069800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:107037800-107102200	Weak transcription	Ovary	ovary
25	chr7:107038000-107054000	Weak transcription	Fetal Heart	heart
26	chr7:107038200-107069600	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:107039000-107050600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr7:107039000-107068000	Weak transcription	Lung	lung
30	chr7:107039200-107050600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr7:107040200-107051400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:107040200-107069800	Weak transcription	Fetal Intestine Small	intestine
33	chr7:107041000-107070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:107041200-107053000	Weak transcription	Rectal Smooth Muscle	rectum
35	chr7:107042400-107053800	Weak transcription	Colon Smooth Muscle	Colon
36	chr7:107044400-107065200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr7:107044800-107053200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:107045200-107053000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr7:107045400-107053000	Weak transcription	HUVEC	blood vessel
40	chr7:107045800-107051600	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr7:107046000-107051200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr7:107046000-107053800	Weak transcription	HepG2	liver
43	chr7:107046000-107054200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr7:107046400-107051200	Weak transcription	Left Ventricle	heart
45	chr7:107046400-107053800	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:107046400-107054000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr7:107046400-107055200	Weak transcription	Pancreas	Pancrea
48	chr7:107046400-107081800	Weak transcription	HSMM	muscle
49	chr7:107046600-107053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr7:107046600-107054000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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