Variant report

Variant	rs611964
Chromosome Location	chr2:31475084-31475085
allele	A/G
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:26)

rs_ID	r²[population]
rs10166615	1.00[EUR][1000 genomes]
rs10177050	1.00[EUR][1000 genomes]
rs10178948	1.00[EUR][1000 genomes]
rs10179054	1.00[EUR][1000 genomes]
rs10183709	1.00[EUR][1000 genomes]
rs10183716	1.00[EUR][1000 genomes]
rs10187343	1.00[EUR][1000 genomes]
rs10210639	1.00[EUR][1000 genomes]
rs12328982	1.00[EUR][1000 genomes]
rs13391292	1.00[EUR][1000 genomes]
rs13391297	1.00[EUR][1000 genomes]
rs13398126	1.00[EUR][1000 genomes]
rs13421107	1.00[EUR][1000 genomes]
rs13429494	1.00[EUR][1000 genomes]
rs57997844	1.00[EUR][1000 genomes]
rs582594	1.00[EUR][1000 genomes]
rs584875	1.00[EUR][1000 genomes]
rs586195	1.00[EUR][1000 genomes]
rs60638976	1.00[EUR][1000 genomes]
rs610240	1.00[EUR][1000 genomes]
rs643137	1.00[EUR][1000 genomes]
rs643577	1.00[EUR][1000 genomes]
rs6543623	1.00[EUR][1000 genomes]
rs6543624	1.00[EUR][1000 genomes]
rs6735512	1.00[EUR][1000 genomes]
rs73925235	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31457800-31485800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:31457800-31491200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:31458000-31475600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:31458000-31479000	Weak transcription	Primary T cells from cord blood	blood
5	chr2:31458000-31479400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:31458000-31483400	Weak transcription	Ovary	ovary
7	chr2:31458200-31479200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:31458200-31479200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:31458200-31479200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:31458200-31489000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:31458400-31476600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:31458400-31486000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:31458800-31483400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:31458800-31490200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:31458800-31493600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr2:31459400-31498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:31459600-31476200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr2:31459800-31479400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:31460000-31479400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:31462000-31495600	Weak transcription	Fetal Lung	lung
21	chr2:31462400-31491000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:31463000-31475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:31463000-31479400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:31463200-31475600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:31463200-31475800	Weak transcription	NHEK	skin
26	chr2:31463400-31482200	Weak transcription	HSMM	muscle
27	chr2:31463400-31491800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:31463600-31475200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:31463600-31479200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:31463600-31501400	Weak transcription	Pancreas	Pancrea
31	chr2:31463800-31486400	Weak transcription	Adipose Nuclei	Adipose
32	chr2:31464000-31476400	Weak transcription	Fetal Intestine Large	intestine
33	chr2:31464200-31475400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:31465000-31476200	Weak transcription	Fetal Heart	heart
35	chr2:31465200-31475600	Weak transcription	HMEC	breast
36	chr2:31465400-31493600	Weak transcription	HSMMtube	muscle
37	chr2:31467000-31490600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:31467800-31491000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:31468000-31492600	Weak transcription	Fetal Brain Male	brain
40	chr2:31468200-31483600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:31468200-31501600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr2:31468800-31476400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:31469400-31476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:31469400-31491800	Weak transcription	Osteobl	bone
45	chr2:31470000-31491800	Weak transcription	NHDF-Ad	bronchial
46	chr2:31470200-31482000	Strong transcription	Fetal Stomach	stomach
47	chr2:31470400-31475200	Strong transcription	Stomach Smooth Muscle	stomach
48	chr2:31470400-31475800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:31470400-31480000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr2:31470600-31475800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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