Variant report

Variant	rs6964395
Chromosome Location	chr7:107080667-107080668
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107079214..107081093-chr7:107117550..107120352,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10464499	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10464620	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10487271	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs10953541	1.00[JPT][hapmap];0.87[AFR][1000 genomes]
rs11532774	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11766060	1.00[JPT][hapmap]
rs11766131	0.96[ASN][1000 genomes]
rs11770061	0.96[ASN][1000 genomes]
rs12056231	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12532447	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12532849	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12533694	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12534124	0.90[ASN][1000 genomes]
rs12535038	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12535761	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12535814	0.81[ASN][1000 genomes]
rs12539895	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234124	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17349904	1.00[JPT][hapmap]
rs17403088	0.81[CHB][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17404067	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17428126	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs17481621	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17481842	0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17482494	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17482543	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17486	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1978085	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1989814	0.81[ASN][1000 genomes]
rs2249043	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs2283041	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2299428	0.92[ASN][1000 genomes]
rs2395880	0.96[ASN][1000 genomes]
rs2395881	0.96[ASN][1000 genomes]
rs2894459	1.00[JPT][hapmap]
rs34084719	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34523267	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3757713	0.81[ASN][1000 genomes]
rs3779497	0.97[ASN][1000 genomes]
rs4515482	0.96[ASN][1000 genomes]
rs4727683	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730248	0.81[CHB][hapmap];0.88[JPT][hapmap];0.92[ASN][1000 genomes]
rs4730250	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56949084	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6945784	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6947674	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6955488	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6957186	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6958969	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6964966	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6976759	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6979198	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs6979368	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763386	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781947	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7784906	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7785962	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes]
rs7797791	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7801317	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7807154	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8180747	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6964395	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107027800-107086800	Weak transcription	Aorta	Aorta
2	chr7:107028200-107082400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr7:107028200-107103800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:107037800-107102200	Weak transcription	Ovary	ovary
6	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr7:107046400-107081800	Weak transcription	HSMM	muscle
8	chr7:107046800-107082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:107050600-107102400	Weak transcription	Dnd41	blood
10	chr7:107050800-107100200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:107051400-107087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:107051600-107082600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr7:107051800-107088600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr7:107052000-107098600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:107056800-107082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:107065000-107100600	Weak transcription	Thymus	Thymus
18	chr7:107067600-107119800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr7:107068200-107098400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr7:107068400-107082400	Weak transcription	Left Ventricle	heart
21	chr7:107068400-107104000	Weak transcription	Pancreas	Pancrea
22	chr7:107069400-107086400	Weak transcription	Primary T cells from cord blood	blood
23	chr7:107072400-107100000	Weak transcription	Gastric	stomach
24	chr7:107072600-107082400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr7:107073000-107103600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr7:107074200-107081800	Weak transcription	Primary B cells from cord blood	blood
27	chr7:107074400-107090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:107076200-107082400	Weak transcription	Fetal Intestine Small	intestine
29	chr7:107076200-107099600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr7:107076400-107082400	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:107078400-107092400	Weak transcription	Fetal Thymus	thymus
32	chr7:107078800-107092400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:107079600-107084800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:107079600-107108600	Weak transcription	Right Ventricle	heart
35	chr7:107080400-107081200	Enhancers	Adipose Nuclei	Adipose
36	chr7:107080400-107099800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:107080600-107081200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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