Variant report

Variant	rs2291093
Chromosome Location	chr3:137993589-137993590
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13314286	0.96[CEU][hapmap]
rs2346746	0.84[CEU][hapmap]
rs3732840	0.83[JPT][hapmap]
rs3856636	0.83[JPT][hapmap]
rs7638688	0.83[JPT][hapmap]
rs9289556	0.83[JPT][hapmap]
rs9809367	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs9846480	0.92[JPT][hapmap]
rs9846722	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs9867678	0.92[JPT][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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137944800-138017400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:137954600-138014400	Weak transcription	NHDF-Ad	bronchial
3	chr3:137956400-138019400	Weak transcription	Small Intestine	intestine
4	chr3:137964800-138003800	Weak transcription	K562	blood
5	chr3:137971800-138001600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr3:137974800-137995600	Strong transcription	Primary T cells from cord blood	blood
7	chr3:137976000-137997000	Strong transcription	Primary B cells from cord blood	blood
8	chr3:137977200-138019000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:137977600-137997000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:137978200-138000800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:137980600-137997000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:137980800-137997000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr3:137980800-137997000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr3:137981200-137997000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:137981800-137994800	Weak transcription	Fetal Heart	heart
16	chr3:137981800-137995400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:137981800-138011600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:137982000-138026600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr3:137982200-137995200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr3:137982200-137997200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:137982600-137995200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr3:137982600-137995400	Strong transcription	Fetal Intestine Large	intestine
23	chr3:137982600-137997000	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr3:137982600-137997000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:137982800-137995400	Strong transcription	Fetal Thymus	thymus
26	chr3:137982800-137997000	Strong transcription	Adipose Nuclei	Adipose
27	chr3:137984000-137997000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:137984000-137997200	Strong transcription	HSMM	muscle
29	chr3:137984200-137997400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:137985200-138008200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr3:137986000-138017000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr3:137987200-137997000	Strong transcription	Liver	Liver
33	chr3:137988000-137996400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr3:137988000-137997000	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr3:137988000-137997200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:137988200-137995400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:137988200-137996000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:137988200-137997000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:137988200-137997200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:137988200-137997800	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr3:137988400-137993800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr3:137988400-137994000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:137988400-137994200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:137988400-137995400	Strong transcription	Dnd41	blood
45	chr3:137988400-137996000	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:137988600-137995600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr3:137988800-137995600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:137989000-137995400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:137989400-137997000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:137989600-137995200	Strong transcription	Placenta	Placenta

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