Variant report

Variant	rs17141193
Chromosome Location	chr7:69564275-69564276
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 125 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10081305	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10085908	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10156142	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1017113	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10215914	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10216186	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10227424	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229336	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10234106	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10234121	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10235098	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10238049	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245749	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10248401	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10248606	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10251433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10254871	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256093	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10258846	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10259028	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10262102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266802	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10276322	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10276912	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10278001	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10279669	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10281537	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10452739	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10950193	0.88[EUR][1000 genomes]
rs11762487	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11763426	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11764141	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11764397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764911	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11766424	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11766980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11768151	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769390	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770241	0.88[EUR][1000 genomes]
rs11770380	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11770466	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11770695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770963	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11771768	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12113743	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12333653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13362851	0.80[AMR][1000 genomes]
rs13362865	0.80[AMR][1000 genomes]
rs13437638	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141032	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17141168	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141181	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17141191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17361825	0.84[EUR][1000 genomes]
rs28393394	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28433534	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464032	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28489338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496072	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28502437	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28582872	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617759	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28630917	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28657792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866276	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28812289	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28864527	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35862187	0.87[EUR][1000 genomes]
rs4364526	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4557583	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56063609	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56272534	0.95[ASN][1000 genomes]
rs56376205	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56388246	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56405888	0.88[EUR][1000 genomes]
rs56410838	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56999082	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57370717	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60847182	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61370051	0.85[AMR][1000 genomes]
rs6944701	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6948174	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6950849	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6958714	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6961682	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6967512	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6968426	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6976263	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6978818	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73154605	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73160193	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73168740	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73168747	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73168758	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73171731	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73173531	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73173550	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7777243	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7780665	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7780835	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7781664	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7796273	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7797662	0.93[EUR][1000 genomes]
rs7798890	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7805165	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806413	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9690738	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9690769	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1018289	chr7:69383450-69650885	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv538922	chr7:69383450-69650885	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv532782	chr7:69383651-70189959	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv2758119	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2759536	chr7:69412504-69594161	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1020488	chr7:69465268-69671126	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1022932	chr7:69496659-69564369	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv538925	chr7:69496659-69564369	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1034817	chr7:69507871-69578892	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv538926	chr7:69507871-69578892	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv1028975	chr7:69513266-69578892	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv916345	chr7:69520612-69784809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69560400-69564600	Weak transcription	Brain Anterior Caudate	brain
2	chr7:69562000-69565000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:69562200-69564800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:69562400-69564800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:69562400-69565400	Enhancers	Fetal Lung	lung
6	chr7:69562600-69564800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:69562600-69564800	Enhancers	Colon Smooth Muscle	Colon
8	chr7:69562800-69564400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr7:69562800-69564800	Enhancers	Adipose Nuclei	Adipose
10	chr7:69562800-69564800	Enhancers	HSMM	muscle
11	chr7:69562800-69565000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:69562800-69565000	Enhancers	Brain Germinal Matrix	brain
13	chr7:69562800-69565000	Weak transcription	Fetal Brain Female	brain
14	chr7:69562800-69565200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr7:69563000-69564600	Enhancers	Fetal Heart	heart
16	chr7:69563400-69564400	Weak transcription	Fetal Stomach	stomach
17	chr7:69563400-69565000	Enhancers	NH-A	brain
18	chr7:69563400-69565400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:69563600-69564400	Weak transcription	Ovary	ovary
20	chr7:69563600-69564600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr7:69563600-69565800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:69564000-69564600	Enhancers	Osteobl	bone
23	chr7:69564000-69564800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:69564000-69564800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:69564000-69564800	Enhancers	Brain Cingulate Gyrus	brain
26	chr7:69564000-69565000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr7:69564200-69564400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:69564200-69564400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:69564200-69564400	Enhancers	Fetal Kidney	kidney
30	chr7:69564200-69564400	Enhancers	Rectal Smooth Muscle	rectum
31	chr7:69564200-69565000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:69564200-69565200	Enhancers	Brain Hippocampus Middle	brain
33	chr7:69564200-69565400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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