Variant report

Variant	rs59320494
Chromosome Location	chr5:14787609-14787610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12153088	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17317417	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17317655	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59110348	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734711	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734712	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734714	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734782	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7703719	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv948447	chr5:14771247-14852610	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv830212	chr5:14784197-14966683	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14729200-14791000	Weak transcription	Small Intestine	intestine
2	chr5:14746000-14790200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:14753600-14790000	Weak transcription	Ovary	ovary
4	chr5:14753600-14801600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:14759200-14790200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:14767400-14809800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:14768400-14789800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:14768600-14790000	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr5:14768600-14790200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:14768600-14790200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:14768600-14790200	Weak transcription	Dnd41	blood
12	chr5:14769200-14789400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:14769400-14790600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:14769400-14790600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:14776800-14790200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:14776800-14809400	Weak transcription	HMEC	breast
17	chr5:14777000-14788200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:14777000-14790000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:14777000-14794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:14777200-14806200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr5:14777200-14810400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr5:14777200-14811400	Weak transcription	Colonic Mucosa	Colon
23	chr5:14778200-14805800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:14778200-14809400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:14778200-14817200	Weak transcription	Fetal Brain Female	brain
26	chr5:14779600-14788000	Weak transcription	Liver	Liver
27	chr5:14780000-14794600	Weak transcription	Fetal Heart	heart
28	chr5:14780600-14789800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr5:14781400-14796000	Weak transcription	Hela-S3	cervix
30	chr5:14781600-14787800	Weak transcription	Brain Angular Gyrus	brain
31	chr5:14781600-14788200	Weak transcription	Brain Substantia Nigra	brain
32	chr5:14781600-14788200	Weak transcription	Right Ventricle	heart
33	chr5:14781600-14789800	Weak transcription	Fetal Intestine Large	intestine
34	chr5:14781600-14794200	Weak transcription	Thymus	Thymus
35	chr5:14781800-14788000	Weak transcription	Primary T cells from cord blood	blood
36	chr5:14782200-14805800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:14782600-14790200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:14782600-14791000	Weak transcription	Aorta	Aorta
39	chr5:14783000-14787800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr5:14784400-14790200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:14784600-14790200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr5:14784600-14793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:14784600-14793400	Weak transcription	Lung	lung
44	chr5:14784600-14793600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr5:14784800-14797400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:14784800-14806600	Weak transcription	Adipose Nuclei	Adipose
47	chr5:14785000-14787800	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr5:14785000-14793400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:14785200-14793400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:14785200-14794000	Weak transcription	Gastric	stomach

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