Variant report

Variant	rs28083
Chromosome Location	chr5:115638304-115638305
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10519443	0.81[YRI][hapmap]
rs1090076	0.86[JPT][hapmap]
rs153578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153591	0.86[ASN][1000 genomes]
rs153592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs153612	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs153614	0.85[JPT][hapmap]
rs1677395	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs168833	0.81[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs194182	0.80[JPT][hapmap]
rs253960	0.83[JPT][hapmap]
rs254154	0.86[ASN][1000 genomes]
rs27499	0.86[ASN][1000 genomes]
rs28125	0.90[JPT][hapmap]
rs37182	0.85[JPT][hapmap]
rs712580	0.80[ASN][1000 genomes]
rs784480	0.93[CEU][hapmap]
rs784482	0.90[JPT][hapmap]
rs804141	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115613400-115641600	Weak transcription	HSMM	muscle
2	chr5:115625600-115639200	Weak transcription	Fetal Stomach	stomach
3	chr5:115625600-115643000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:115626600-115641600	Weak transcription	Fetal Brain Male	brain
5	chr5:115626800-115642200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:115627800-115639200	Weak transcription	Placenta	Placenta
7	chr5:115628000-115643800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:115628400-115639200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:115628400-115641200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:115628600-115639400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:115628600-115643400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:115629000-115643800	Weak transcription	HUVEC	blood vessel
13	chr5:115629400-115638400	Weak transcription	Right Ventricle	heart
14	chr5:115631800-115640600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:115631800-115641800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:115632000-115639200	Weak transcription	Lung	lung
17	chr5:115632000-115643000	Weak transcription	NH-A	brain
18	chr5:115632600-115640400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:115632600-115640600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:115632600-115643400	Weak transcription	Stomach Mucosa	stomach
21	chr5:115632800-115639600	Weak transcription	Brain Angular Gyrus	brain
22	chr5:115632800-115642600	Weak transcription	NHDF-Ad	bronchial
23	chr5:115633200-115640800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:115633600-115639800	Weak transcription	Spleen	Spleen
25	chr5:115633800-115640400	Weak transcription	Esophagus	oesophagus
26	chr5:115634000-115640400	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:115634200-115639000	Weak transcription	Small Intestine	intestine
28	chr5:115634200-115639200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr5:115634200-115639200	Weak transcription	Colonic Mucosa	Colon
30	chr5:115634200-115639200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:115634200-115639400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:115634200-115639400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr5:115634200-115639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr5:115634200-115639600	Weak transcription	Dnd41	blood
35	chr5:115634200-115640200	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:115634200-115640400	Weak transcription	Fetal Intestine Small	intestine
37	chr5:115634200-115640600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:115634200-115640600	Weak transcription	Thymus	Thymus
39	chr5:115634200-115640800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:115634200-115640800	Weak transcription	Psoas Muscle	Psoas
41	chr5:115634200-115641400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr5:115634200-115641800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:115634200-115641800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:115634200-115642200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:115634200-115643600	Weak transcription	HepG2	liver
46	chr5:115634200-115664400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr5:115634400-115639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:115634400-115639200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:115634400-115640400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:115634400-115640400	Strong transcription	Primary T helper cells fromperipheralblood	blood

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