Variant report

Variant	rs4730242
Chromosome Location	chr7:107057373-107057374
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	chr7:107056625..107059489-chr7:107062742..107066845,4	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10464620	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs10487271	1.00[CEU][hapmap]
rs10953535	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10953536	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953537	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11761181	0.86[EUR][1000 genomes]
rs11766131	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11769861	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11769901	0.85[EUR][1000 genomes]
rs11770061	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11773514	0.87[EUR][1000 genomes]
rs12154285	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12155231	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531187	0.89[EUR][1000 genomes]
rs12532447	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12532514	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532849	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12532967	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12533516	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12534000	0.86[EUR][1000 genomes]
rs12534676	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12535081	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535093	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535814	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12536485	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12536491	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12536603	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12537011	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12537733	0.87[EUR][1000 genomes]
rs12537785	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538090	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538769	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538848	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539895	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1548523	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1548524	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17349904	1.00[CEU][hapmap]
rs17428071	1.00[CEU][hapmap]
rs17428126	0.95[CEU][hapmap]
rs17429118	0.86[EUR][1000 genomes]
rs17429146	0.86[EUR][1000 genomes]
rs17429825	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481842	0.80[CEU][hapmap]
rs1978085	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1989814	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2107319	1.00[CEU][hapmap]
rs2189501	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2249043	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2299422	0.86[EUR][1000 genomes]
rs2299428	0.81[EUR][1000 genomes]
rs2395859	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395880	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2395881	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2894459	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs34084719	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3757713	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3801958	0.87[EUR][1000 genomes]
rs3801959	0.87[EUR][1000 genomes]
rs3801963	1.00[CEU][hapmap]
rs3815148	0.84[EUR][1000 genomes]
rs3823959	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3823960	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4515482	0.94[EUR][1000 genomes]
rs4730231	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730232	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4730233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730248	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs5002976	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57525841	0.83[EUR][1000 genomes]
rs58319984	0.87[EUR][1000 genomes]
rs58663672	0.85[EUR][1000 genomes]
rs58689670	0.81[EUR][1000 genomes]
rs59782202	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59900773	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60255281	0.85[EUR][1000 genomes]
rs61511581	0.85[EUR][1000 genomes]
rs6963917	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6979368	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7781947	1.00[CEU][hapmap]
rs7783181	0.88[EUR][1000 genomes]
rs7804979	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807648	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809508	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810216	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641378	1.00[CEU][hapmap]
rs997311	0.81[AMR][1000 genomes];0.87[EUR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4730242	GPR22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:43 , 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	chr7:107031600-107069600	Weak transcription	Fetal Kidney	kidney
5	chr7:107032400-107068000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:107033800-107069800	Weak transcription	Small Intestine	intestine
7	chr7:107035800-107133000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:107036800-107069800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:107037000-107069800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:107037800-107102200	Weak transcription	Ovary	ovary
11	chr7:107038200-107069600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:107038800-107100600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:107039000-107068000	Weak transcription	Lung	lung
14	chr7:107040200-107069800	Weak transcription	Fetal Intestine Small	intestine
15	chr7:107041000-107070000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:107044400-107065200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr7:107046400-107081800	Weak transcription	HSMM	muscle
18	chr7:107046800-107082200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:107047800-107069200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:107049400-107068000	Weak transcription	Psoas Muscle	Psoas
21	chr7:107050000-107063800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr7:107050000-107069800	Weak transcription	GM12878-XiMat	blood
23	chr7:107050600-107102400	Weak transcription	Dnd41	blood
24	chr7:107050800-107068000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:107050800-107100200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:107051400-107087000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:107051600-107066600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:107051600-107067600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:107051600-107068000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr7:107051600-107068000	Weak transcription	Left Ventricle	heart
31	chr7:107051600-107079000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:107051600-107082600	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr7:107051800-107066600	Weak transcription	Primary T cells from cord blood	blood
34	chr7:107051800-107069200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:107051800-107070200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:107051800-107071000	Weak transcription	Fetal Intestine Large	intestine
37	chr7:107051800-107088600	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:107052000-107066400	Weak transcription	Primary B cells from cord blood	blood
39	chr7:107052000-107098600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:107052600-107067400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr7:107052600-107070000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr7:107052600-107126400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:107056800-107082400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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