Variant report

Variant	rs12657184
Chromosome Location	chr5:74331528-74331529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10462510	0.95[ASN][1000 genomes]
rs11955513	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12515891	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12651778	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12655792	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4492095	0.85[ASN][1000 genomes]
rs4704166	0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[ASN][1000 genomes]
rs58243356	0.84[ASN][1000 genomes]
rs58323964	0.95[ASN][1000 genomes]
rs59992473	0.82[ASN][1000 genomes]
rs61342638	0.94[ASN][1000 genomes]
rs61616736	0.81[ASN][1000 genomes]
rs62369162	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62369187	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62369188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72768311	0.83[ASN][1000 genomes]
rs7706858	0.85[ASN][1000 genomes]
rs7734055	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7736471	0.90[ASN][1000 genomes]

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	nsv830352	chr5:74189495-74337944	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74313600-74341800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:74315200-74332800	Weak transcription	NHDF-Ad	bronchial
3	chr5:74317600-74344200	Weak transcription	Ovary	ovary
4	chr5:74317800-74332600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:74320400-74332600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:74322800-74334400	Weak transcription	Aorta	Aorta
7	chr5:74324000-74332400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:74324400-74333600	Strong transcription	Thymus	Thymus
9	chr5:74325200-74332600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:74325600-74331800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr5:74325600-74332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:74326800-74331600	Strong transcription	Fetal Intestine Small	intestine
13	chr5:74327400-74332600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr5:74327400-74333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr5:74327600-74332600	Weak transcription	NHLF	lung
16	chr5:74328000-74339400	Weak transcription	Fetal Stomach	stomach
17	chr5:74328200-74331600	Enhancers	Placenta	Placenta
18	chr5:74328600-74333000	Weak transcription	Pancreas	Pancrea
19	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr5:74328800-74333200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr5:74329000-74332600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:74329200-74331600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr5:74329200-74334200	Enhancers	Stomach Mucosa	stomach
24	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr5:74329600-74332000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:74329600-74338000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:74329800-74331800	Enhancers	Esophagus	oesophagus
28	chr5:74329800-74334800	Strong transcription	Duodenum Mucosa	Duodenum
29	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr5:74330000-74331600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:74330000-74339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:74330400-74331600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:74330400-74339400	Weak transcription	Gastric	stomach
35	chr5:74330400-74340400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr5:74330400-74341800	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr5:74330600-74331600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:74330600-74332000	Enhancers	Primary T cells fromperipheralblood	blood
40	chr5:74330600-74332200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr5:74330600-74332200	Weak transcription	HMEC	breast
42	chr5:74330600-74333200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr5:74330600-74333400	Strong transcription	Fetal Thymus	thymus
44	chr5:74330600-74337200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr5:74330600-74339400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:74330600-74339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:74330600-74339600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:74330600-74339600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:74330600-74341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:74330600-74342600	Weak transcription	Colon Smooth Muscle	Colon

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