Variant report

Variant	rs1353250
Chromosome Location	chr5:35857262-35857263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10044838	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10044883	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10058453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10063445	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10074095	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10074127	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10941267	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11567686	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11567737	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1353252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389830	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1389831	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1389832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494555	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1494556	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1494557	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1494558	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1494560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1494561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494562	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1862634	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3777090	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6451226	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6451227	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451228	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6451230	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6451231	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6893142	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7701111	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7711202	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7711208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7711268	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7716064	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7720993	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9292616	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9292617	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs969129	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022761	chr5:35775802-35902546	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv881055	chr5:35850693-35858721	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv881685	chr5:35850693-35859863	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv881358	chr5:35850693-35861068	Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv880610	chr5:35850693-35866265	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv880517	chr5:35850693-35870814	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv597813	chr5:35855264-35864590	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv597814	chr5:35855410-35859002	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
9	nsv881045	chr5:35856575-35861068	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35852400-35859200	Weak transcription	Lung	lung
2	chr5:35852400-35862800	Enhancers	Hela-S3	cervix
3	chr5:35853800-35858000	Enhancers	GM12878-XiMat	blood
4	chr5:35854200-35857800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:35854400-35857400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:35854800-35857800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:35855400-35862400	Enhancers	HSMMtube	muscle
8	chr5:35856000-35857400	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr5:35856200-35857400	Enhancers	HUVEC	blood vessel
10	chr5:35856200-35859800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:35856400-35857400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:35856400-35857400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:35856400-35857400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr5:35856400-35858200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr5:35856400-35858400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr5:35856400-35858400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr5:35856400-35858800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr5:35856400-35859000	Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:35856600-35857400	Enhancers	Primary B cells from peripheral blood	blood
20	chr5:35856600-35858000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr5:35856600-35859000	Active TSS	Primary T cells from cord blood	blood
22	chr5:35856600-35859000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr5:35856600-35860400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:35856800-35857600	Flanking Active TSS	HSMM	muscle
25	chr5:35856800-35858000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:35856800-35858000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr5:35856800-35858000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:35856800-35858000	Flanking Active TSS	HMEC	breast
29	chr5:35856800-35858000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr5:35856800-35858000	Flanking Active TSS	Osteobl	bone
31	chr5:35856800-35858400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:35856800-35858800	Active TSS	Primary T cells fromperipheralblood	blood
33	chr5:35856800-35859200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:35856800-35859400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:35857000-35857600	Weak transcription	A549	lung
36	chr5:35857000-35857800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:35857000-35857800	Active TSS	Dnd41	blood
38	chr5:35857000-35858000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:35857000-35858000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:35857000-35858000	Flanking Active TSS	NHEK	skin
41	chr5:35857000-35858200	Transcr. at gene 5' and 3'	Primary T helper memory cells from peripheral blood 1	blood
42	chr5:35857000-35858200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr5:35857000-35858800	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:35857000-35859000	Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr5:35857000-35859000	Active TSS	NHLF	lung
46	chr5:35857000-35859400	Active TSS	Fetal Thymus	thymus
47	chr5:35857000-35859600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr5:35857000-35860600	Active TSS	Duodenum Mucosa	Duodenum
49	chr5:35857000-35860800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr5:35857000-35861000	Active TSS	Thymus	Thymus

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