Variant report

Variant	rs12656608
Chromosome Location	chr5:115716682-115716683
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10044332	0.93[ASN][1000 genomes]
rs11241386	0.86[ASN][1000 genomes]
rs12654057	0.95[ASN][1000 genomes]
rs1351136	0.84[ASN][1000 genomes]
rs1351137	0.84[ASN][1000 genomes]
rs17139649	1.00[ASN][1000 genomes]
rs17139652	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs187591	0.82[ASN][1000 genomes]
rs1991446	0.93[ASN][1000 genomes]
rs27500	0.84[ASN][1000 genomes]
rs3844070	0.93[ASN][1000 genomes]
rs72808983	0.85[ASN][1000 genomes]
rs804142	0.86[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	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	esv2763489	chr5:115693166-115733327	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115685000-115721400	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr5:115697600-115748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:115698000-115722800	Weak transcription	Pancreas	Pancrea
4	chr5:115706000-115724400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:115706800-115723200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr5:115707200-115717000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr5:115707400-115717200	Weak transcription	Primary T cells from cord blood	blood
8	chr5:115707400-115722600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:115707600-115748400	Weak transcription	Fetal Intestine Large	intestine
10	chr5:115708200-115717400	Weak transcription	HUVEC	blood vessel
11	chr5:115708400-115722400	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:115708600-115718000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:115708600-115754000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:115708800-115720000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:115708800-115722400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:115709400-115722800	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:115710400-115718000	Weak transcription	Spleen	Spleen
18	chr5:115710800-115717000	Weak transcription	Adipose Nuclei	Adipose
19	chr5:115710800-115717800	Enhancers	Fetal Muscle Leg	muscle
20	chr5:115711200-115717600	Weak transcription	Primary B cells from cord blood	blood
21	chr5:115711800-115718600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:115711800-115730600	Weak transcription	Gastric	stomach
23	chr5:115712000-115722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:115712400-115717000	Weak transcription	Left Ventricle	heart
25	chr5:115713400-115717800	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr5:115713400-115719200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:115714200-115717000	Weak transcription	Right Atrium	heart
28	chr5:115714400-115716800	Weak transcription	Fetal Brain Male	brain
29	chr5:115714400-115717000	Weak transcription	Brain Angular Gyrus	brain
30	chr5:115714400-115717800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:115714400-115717800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:115714400-115718000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:115714400-115718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:115714400-115718000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr5:115714400-115718400	Weak transcription	Brain Substantia Nigra	brain
36	chr5:115714400-115724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr5:115714400-115730200	Weak transcription	Right Ventricle	heart
38	chr5:115714600-115717200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:115714600-115717400	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:115714600-115724200	Weak transcription	Psoas Muscle	Psoas
41	chr5:115714800-115717000	Weak transcription	Fetal Brain Female	brain
42	chr5:115714800-115717400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:115714800-115718000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:115715200-115717600	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr5:115715600-115722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:115715600-115724400	Weak transcription	Fetal Kidney	kidney
47	chr5:115716200-115716800	Enhancers	Lung	lung
48	chr5:115716200-115716800	Enhancers	HSMMtube	muscle
49	chr5:115716200-115717200	Enhancers	Fetal Muscle Trunk	muscle
50	chr5:115716200-115719000	Enhancers	Skeletal Muscle Female	skeletal muscle

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