Variant report

Variant	rs712590
Chromosome Location	chr5:115656326-115656327
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10051539	0.84[CEU][hapmap];0.86[CHB][hapmap];0.83[JPT][hapmap]
rs10055039	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs10072430	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs10478283	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs10519460	0.84[EUR][1000 genomes]
rs1073205	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10900713	0.91[CEU][hapmap];0.90[CHB][hapmap]
rs11948686	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11956927	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12055304	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs153590	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs17139198	0.84[EUR][1000 genomes]
rs17139530	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17139556	0.84[EUR][1000 genomes]
rs17139565	0.84[EUR][1000 genomes]
rs17139591	0.84[EUR][1000 genomes]
rs17500032	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1842003	0.90[ASN][1000 genomes]
rs1842004	0.90[ASN][1000 genomes]
rs2416431	0.91[CEU][hapmap];0.90[CHB][hapmap]
rs4920906	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs4920909	0.92[EUR][1000 genomes]
rs4920911	0.90[ASN][1000 genomes]
rs4920912	0.90[ASN][1000 genomes]
rs4920913	0.90[ASN][1000 genomes]
rs4920914	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4921092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4921093	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4921095	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55702251	0.84[EUR][1000 genomes]
rs55817922	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56947773	0.84[EUR][1000 genomes]
rs57067978	0.84[EUR][1000 genomes]
rs57362825	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58244621	0.84[EUR][1000 genomes]
rs59570866	0.84[EUR][1000 genomes]
rs59951603	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60052990	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6594950	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs6594954	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs6594955	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs6594962	0.90[ASN][1000 genomes]
rs6594964	0.84[EUR][1000 genomes]
rs6594965	0.84[EUR][1000 genomes]
rs6861340	0.90[ASN][1000 genomes]
rs6874012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6878279	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs6893543	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6893952	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73261067	0.88[EUR][1000 genomes]
rs73263060	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73263082	0.90[ASN][1000 genomes]
rs73263087	0.90[ASN][1000 genomes]
rs73264968	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73266811	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73781050	0.84[EUR][1000 genomes]
rs7701174	0.92[EUR][1000 genomes]
rs7704903	0.91[CEU][hapmap];0.95[CHB][hapmap]
rs7705979	0.84[EUR][1000 genomes]
rs7716629	0.84[EUR][1000 genomes]
rs7716923	0.84[EUR][1000 genomes]
rs7734398	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7737229	0.80[EUR][1000 genomes]
rs9326993	0.92[CEU][hapmap];0.90[CHB][hapmap]

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	esv34146	chr5:115315944-115729919	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv2755349	chr5:115384101-115733101	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv882746	chr5:115566026-115704566	Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv882747	chr5:115566636-115662510	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1017983	chr5:115578765-115713688	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv882748	chr5:115584159-115669950	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv869754	chr5:115634234-115696094	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv4968	chr5:115635771-115714856	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1018001	chr5:115640603-115660285	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:115640800-115658200	Weak transcription	Colonic Mucosa	Colon
3	chr5:115643000-115656800	Weak transcription	Gastric	stomach
4	chr5:115643200-115660200	Weak transcription	Placenta	Placenta
5	chr5:115643200-115664200	Weak transcription	Thymus	Thymus
6	chr5:115643200-115664800	Weak transcription	Pancreas	Pancrea
7	chr5:115643200-115669800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:115644000-115658600	Weak transcription	HSMM	muscle
9	chr5:115644400-115664800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:115644400-115671800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:115647600-115660400	Weak transcription	Small Intestine	intestine
12	chr5:115649000-115692800	Weak transcription	Fetal Heart	heart
13	chr5:115649200-115663200	Weak transcription	HSMMtube	muscle
14	chr5:115649600-115656600	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:115649600-115658000	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr5:115650800-115659200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:115652000-115665000	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr5:115652000-115668000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:115652800-115656400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:115652800-115659400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:115653000-115667400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:115653200-115658800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:115653200-115659200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr5:115653400-115658200	Weak transcription	Esophagus	oesophagus
25	chr5:115653400-115658400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr5:115653400-115664600	Weak transcription	Psoas Muscle	Psoas
27	chr5:115653600-115656800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:115653600-115657800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:115653600-115658400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr5:115653600-115659200	Weak transcription	Aorta	Aorta
31	chr5:115653600-115660000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:115653600-115670400	Weak transcription	Right Ventricle	heart
33	chr5:115653800-115657000	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr5:115654000-115658600	Strong transcription	Fetal Intestine Large	intestine
35	chr5:115654200-115656800	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr5:115654400-115656600	Strong transcription	Primary T cells from cord blood	blood
37	chr5:115654400-115657800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr5:115654400-115658400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:115654400-115658600	Weak transcription	Dnd41	blood
40	chr5:115654400-115661000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr5:115654400-115664600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:115654600-115664400	Weak transcription	Fetal Muscle Trunk	muscle
43	chr5:115654600-115664400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:115654600-115664800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr5:115654600-115665000	Weak transcription	Rectal Smooth Muscle	rectum
46	chr5:115654600-115669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:115654800-115658400	Weak transcription	Fetal Muscle Leg	muscle
48	chr5:115654800-115658600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:115655000-115660000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:115655200-115657000	Strong transcription	Primary hematopoietic stem cells	blood

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