Variant report

Variant	rs62502270
Chromosome Location	chr7:150267616-150267617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1110093	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11760959	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11760960	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11761391	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11765395	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11768988	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769223	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11770957	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11771561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771962	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11772952	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11982681	0.95[EUR][1000 genomes]
rs12672072	0.95[EUR][1000 genomes]
rs12703078	0.93[EUR][1000 genomes]
rs12703083	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13222905	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13224067	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13231883	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13232597	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13240941	0.95[EUR][1000 genomes]
rs13242186	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1568629	0.93[EUR][1000 genomes]
rs1916003	0.95[EUR][1000 genomes]
rs2177188	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2177189	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293172	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293174	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2373802	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2373815	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34211617	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34514106	0.95[EUR][1000 genomes]
rs34545650	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35133885	0.95[EUR][1000 genomes]
rs35194540	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35225135	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35388682	0.97[EUR][1000 genomes]
rs35496043	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35556724	0.87[EUR][1000 genomes]
rs35672177	0.95[EUR][1000 genomes]
rs35677477	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36021964	0.95[EUR][1000 genomes]
rs36159323	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36185661	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3807378	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4725345	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4725348	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4725908	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4725921	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4725923	0.91[EUR][1000 genomes]
rs58414124	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62503177	0.95[EUR][1000 genomes]
rs6949485	0.95[EUR][1000 genomes]
rs73163503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782113	0.95[EUR][1000 genomes]
rs7802853	0.95[EUR][1000 genomes]
rs7803234	0.95[EUR][1000 genomes]
rs7809438	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	esv3395746	chr7:150181141-150300680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv3341786	chr7:150220353-150269134	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv16529	chr7:150249312-150312843	Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	esv2758617	chr7:150251949-150463804	Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	esv2759573	chr7:150251949-150463804	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150263800-150267800	Active TSS	Rectal Smooth Muscle	rectum
2	chr7:150264000-150268200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr7:150264400-150268200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr7:150264600-150267800	Active TSS	Primary B cells from cord blood	blood
5	chr7:150265200-150271400	Weak transcription	Gastric	stomach
6	chr7:150265400-150269000	Weak transcription	Fetal Intestine Small	intestine
7	chr7:150265600-150268200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:150266000-150268200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
9	chr7:150266000-150268200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:150266000-150268200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
11	chr7:150266200-150268600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:150266200-150270600	Weak transcription	Thymus	Thymus
13	chr7:150266400-150268000	Transcr. at gene 5' and 3'	Primary T helper cells fromperipheralblood	blood
14	chr7:150266400-150268400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
15	chr7:150266600-150267800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:150266600-150268000	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:150266600-150269000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:150266600-150269200	Weak transcription	Esophagus	oesophagus
19	chr7:150266600-150269200	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:150266600-150269800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:150266800-150267800	Weak transcription	Brain Anterior Caudate	brain
22	chr7:150266800-150268200	Enhancers	Primary hematopoietic stem cells	blood
23	chr7:150266800-150268200	Transcr. at gene 5' and 3'	Primary T killer naive cells fromperipheralblood	blood
24	chr7:150266800-150268400	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:150266800-150268600	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
26	chr7:150267000-150268000	Transcr. at gene 5' and 3'	Left Ventricle	heart
27	chr7:150267000-150268200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:150267000-150268400	Transcr. at gene 5' and 3'	Primary T killer memory cells from peripheral blood	blood
29	chr7:150267000-150269600	Genic enhancers	HUVEC	blood vessel
30	chr7:150267000-150270600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:150267000-150271400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr7:150267000-150272400	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:150267200-150267800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
34	chr7:150267200-150267800	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:150267200-150268000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:150267200-150268000	Enhancers	Brain Substantia Nigra	brain
37	chr7:150267200-150268200	Enhancers	Right Atrium	heart
38	chr7:150267200-150268400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
39	chr7:150267200-150268400	Genic enhancers	Placenta	Placenta
40	chr7:150267200-150268400	Genic enhancers	Spleen	Spleen
41	chr7:150267200-150268400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
42	chr7:150267200-150270000	ZNF genes & repeats	Lung	lung
43	chr7:150267200-150271400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:150267400-150268000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:150267400-150268200	ZNF genes & repeats	Liver	Liver
46	chr7:150267400-150268400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
47	chr7:150267400-150269000	Strong transcription	Fetal Thymus	thymus
48	chr7:150267400-150269400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:150267400-150269800	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:150267600-150267800	Strong transcription	Small Intestine	intestine

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