Variant report

Variant	rs17152238
Chromosome Location	chr7:78947463-78947464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs10085854	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10225318	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10244816	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10247922	1.00[JPT][hapmap]
rs10248439	1.00[JPT][hapmap]
rs10248584	1.00[JPT][hapmap]
rs10254280	1.00[MEX][hapmap]
rs10258290	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10261439	1.00[JPT][hapmap]
rs10263112	1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs10264341	1.00[EUR][1000 genomes]
rs10274797	1.00[EUR][1000 genomes]
rs10276665	1.00[JPT][hapmap]
rs10485936	1.00[JPT][hapmap]
rs1100310	1.00[JPT][hapmap]
rs1155234	1.00[JPT][hapmap]
rs11972217	1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs11974844	0.90[EUR][1000 genomes]
rs11974872	0.90[EUR][1000 genomes]
rs11977156	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11979157	0.90[EUR][1000 genomes]
rs11980152	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11980253	1.00[JPT][hapmap]
rs12666679	0.91[EUR][1000 genomes]
rs12666680	1.00[EUR][1000 genomes]
rs12670442	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12670971	1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs12670981	1.00[EUR][1000 genomes]
rs12706106	1.00[EUR][1000 genomes]
rs12706107	1.00[EUR][1000 genomes]
rs1358471	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406153	1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1406154	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1406155	1.00[EUR][1000 genomes]
rs1406156	1.00[EUR][1000 genomes]
rs1528262	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534492	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1534493	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1609273	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1609274	1.00[EUR][1000 genomes]
rs1609275	1.00[EUR][1000 genomes]
rs1609276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16886435	1.00[JPT][hapmap]
rs16886457	1.00[JPT][hapmap]
rs16886476	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs16886549	1.00[JPT][hapmap]
rs17147873	1.00[JPT][hapmap];0.90[EUR][1000 genomes]
rs17152006	1.00[JPT][hapmap]
rs17152009	1.00[JPT][hapmap]
rs17152011	1.00[JPT][hapmap]
rs17152041	1.00[JPT][hapmap]
rs17152051	1.00[JPT][hapmap]
rs17152063	1.00[JPT][hapmap]
rs17152076	1.00[JPT][hapmap]
rs17152125	1.00[JPT][hapmap];1.00[TSI][hapmap]
rs17152224	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17152245	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17478565	1.00[JPT][hapmap]
rs17481134	1.00[JPT][hapmap]
rs17488042	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17818755	1.00[JPT][hapmap]
rs1918930	1.00[JPT][hapmap]
rs1918932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918933	0.85[EUR][1000 genomes]
rs1997277	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2178169	1.00[EUR][1000 genomes]
rs2364908	1.00[JPT][hapmap]
rs28401690	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450541	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28611031	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28700941	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727839	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4727840	1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4727842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730753	0.87[EUR][1000 genomes]
rs4730757	1.00[EUR][1000 genomes]
rs4730758	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs56829360	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59620956	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61075638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466602	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6466622	1.00[JPT][hapmap]
rs6466638	1.00[JPT][hapmap]
rs6963053	1.00[EUR][1000 genomes]
rs6963068	1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6975958	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375128	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375150	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375167	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7787904	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7787956	1.00[JPT][hapmap]
rs7800314	1.00[JPT][hapmap]
rs7811441	1.00[JPT][hapmap]
rs848913	1.00[JPT][hapmap]
rs848932	1.00[JPT][hapmap]
rs848934	1.00[JPT][hapmap]
rs848948	1.00[JPT][hapmap]
rs848953	1.00[JPT][hapmap]
rs991261	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464598	chr7:78492642-79483480	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv607659	chr7:78492642-79483480	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1029799	chr7:78608097-79061737	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv831041	chr7:78819499-78973222	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2764028	chr7:78874740-79112630	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv971531	chr7:78944995-78949430	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78946400-78947600	Enhancers	Liver	Liver
2	chr7:78946600-78947600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr7:78946600-78947600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:78946600-78949400	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr7:78946800-78947600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr7:78946800-78947600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr7:78946800-78947600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr7:78946800-78947600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:78946800-78947600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:78946800-78947600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:78946800-78947600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:78946800-78947600	Flanking Active TSS	A549	lung
13	chr7:78946800-78947600	Enhancers	HMEC	breast
14	chr7:78946800-78947600	Enhancers	HUVEC	blood vessel
15	chr7:78946800-78947600	Enhancers	Osteobl	bone
16	chr7:78946800-78948000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:78946800-78948000	Enhancers	HepG2	liver
18	chr7:78947000-78947600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:78947000-78947600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:78947000-78947600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:78947000-78947600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:78947000-78947600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:78947000-78947600	Enhancers	NHEK	skin
24	chr7:78947000-78947600	Enhancers	NHLF	lung
25	chr7:78947000-78947800	Enhancers	NH-A	brain
26	chr7:78947000-78947800	Enhancers	NHDF-Ad	bronchial
27	chr7:78947000-78948000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:78947200-78947600	Enhancers	Hela-S3	cervix
29	chr7:78947400-78947600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:78947400-78947600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr7:78947400-78947800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:78947400-78948400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:78947400-78951000	Weak transcription	Brain Substantia Nigra	brain
34	chr7:78947400-78955200	Weak transcription	Aorta	Aorta
35	chr7:78947400-78956600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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