Variant report

Variant	rs848519
Chromosome Location	chr2:36752001-36752002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10490671	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2023408	1.00[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs2888369	0.89[CHB][hapmap]
rs3770827	0.95[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.85[ASN][1000 genomes]
rs3770834	1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs3770841	0.94[CHB][hapmap]
rs3821155	0.85[ASN][1000 genomes]
rs4141686	0.89[CHB][hapmap]
rs848516	0.84[MEX][hapmap]
rs848529	0.83[CHB][hapmap];0.84[MEX][hapmap]
rs848539	0.89[CHB][hapmap]
rs848543	0.89[CHB][hapmap]
rs848609	0.92[GIH][hapmap];0.89[MEX][hapmap]
rs848618	1.00[GIH][hapmap];0.89[MEX][hapmap]
rs867701	0.94[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs884216	0.94[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs918052	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:36727400-36757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
7	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
8	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
9	chr2:36734600-36756800	Strong transcription	HepG2	liver
10	chr2:36735600-36754200	Strong transcription	Hela-S3	cervix
11	chr2:36735800-36752600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:36736000-36755800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:36738200-36754000	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr2:36738600-36754200	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:36738800-36754000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:36739400-36757400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:36740200-36754000	Strong transcription	Adipose Nuclei	Adipose
19	chr2:36740200-36754800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr2:36743800-36752400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:36744000-36752200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:36744000-36754200	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:36744000-36754400	Strong transcription	HMEC	breast
24	chr2:36744000-36755600	Strong transcription	NH-A	brain
25	chr2:36744000-36756600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr2:36744200-36756600	Strong transcription	HSMM	muscle
27	chr2:36744800-36752600	Strong transcription	NHDF-Ad	bronchial
28	chr2:36744800-36754200	Strong transcription	HSMMtube	muscle
29	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:36745000-36752600	Strong transcription	NHLF	lung
31	chr2:36745000-36755600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:36745000-36756800	Strong transcription	Placenta	Placenta
33	chr2:36745000-36757800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:36746000-36753000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:36746600-36753000	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
37	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
38	chr2:36747800-36774200	Weak transcription	Liver	Liver
39	chr2:36748000-36752400	Strong transcription	Osteobl	bone
40	chr2:36748000-36757400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:36748000-36757400	Weak transcription	Brain Substantia Nigra	brain
42	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:36748000-36764400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:36748200-36757400	Weak transcription	Fetal Heart	heart
45	chr2:36749000-36754000	Strong transcription	Fetal Intestine Large	intestine
46	chr2:36749200-36758000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr2:36749400-36752200	Weak transcription	Fetal Lung	lung
48	chr2:36749600-36756600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:36749600-36764200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain

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