Variant report

Variant	rs13188960
Chromosome Location	chr5:35853319-35853320
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10213865	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10214237	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10214273	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10472984	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11567694	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11567705	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11742240	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11742270	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1494564	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34463936	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4594881	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62351974	0.80[EUR][1000 genomes]
rs62351975	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6871748	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6881270	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6881706	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6890853	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6897932	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7717955	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35849600-35856200	Enhancers	Dnd41	blood
2	chr5:35851800-35856800	Enhancers	NHDF-Ad	bronchial
3	chr5:35852000-35853400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr5:35852000-35853400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
5	chr5:35852000-35853600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr5:35852000-35853800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:35852000-35854400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:35852000-35854600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr5:35852000-35856800	Enhancers	Primary B cells from cord blood	blood
10	chr5:35852200-35853400	Enhancers	Primary B cells from peripheral blood	blood
11	chr5:35852200-35854200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:35852200-35854200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr5:35852200-35854400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr5:35852200-35854400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:35852200-35854600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr5:35852400-35853400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:35852400-35853800	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr5:35852400-35854400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr5:35852400-35856200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:35852400-35856600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr5:35852400-35859200	Weak transcription	Lung	lung
22	chr5:35852400-35862800	Enhancers	Hela-S3	cervix
23	chr5:35852600-35853600	Weak transcription	NHEK	skin
24	chr5:35852600-35853800	Weak transcription	Left Ventricle	heart
25	chr5:35852600-35853800	Weak transcription	Psoas Muscle	Psoas
26	chr5:35852600-35854200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr5:35852600-35854200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:35852600-35855600	Weak transcription	A549	lung
29	chr5:35852600-35856400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr5:35852800-35853400	Enhancers	HSMM	muscle
31	chr5:35852800-35854000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr5:35852800-35854400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr5:35852800-35854400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr5:35852800-35854400	Weak transcription	HMEC	breast
35	chr5:35852800-35854800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr5:35852800-35856000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
37	chr5:35852800-35856600	Weak transcription	NH-A	brain
38	chr5:35852800-35857000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr5:35853000-35853600	Enhancers	Osteobl	bone
40	chr5:35853000-35853800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:35853000-35853800	Active TSS	Primary T cells fromperipheralblood	blood
42	chr5:35853000-35853800	Weak transcription	Right Atrium	heart
43	chr5:35853000-35855400	Weak transcription	HSMMtube	muscle
44	chr5:35853000-35855400	Weak transcription	NHLF	lung
45	chr5:35853000-35856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:35853000-35856400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:35853000-35856600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:35853000-35856600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr5:35853000-35856800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr5:35853000-35857000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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