Variant report

Variant	rs12655792
Chromosome Location	chr5:74331991-74331992
allele	A/C
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]
rs10462510	0.90[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]
rs12657184	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];0.84[CHD][hapmap];0.86[ASN][1000 genomes]
rs58323964	0.90[ASN][1000 genomes]
rs61342638	0.89[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];0.99[ASN][1000 genomes]
rs62369188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62369189	0.84[ASN][1000 genomes]
rs7706858	0.85[ASN][1000 genomes]
rs7734055	0.81[AMR][1000 genomes];0.98[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:59 , 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	chr5:74325600-74332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:74327400-74332600	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr5:74327400-74333200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr5:74327600-74332600	Weak transcription	NHLF	lung
14	chr5:74328000-74339400	Weak transcription	Fetal Stomach	stomach
15	chr5:74328600-74333000	Weak transcription	Pancreas	Pancrea
16	chr5:74328600-74345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:74328800-74333200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr5:74329000-74332600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:74329200-74334200	Enhancers	Stomach Mucosa	stomach
20	chr5:74329200-74346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:74329600-74332000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:74329600-74338000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:74329800-74334800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr5:74329800-74344400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr5:74330000-74339800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:74330000-74344400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:74330400-74339400	Weak transcription	Gastric	stomach
28	chr5:74330400-74340400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:74330400-74341800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:74330400-74344200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr5:74330600-74332000	Enhancers	Primary T cells fromperipheralblood	blood
32	chr5:74330600-74332200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:74330600-74332200	Weak transcription	HMEC	breast
34	chr5:74330600-74333200	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr5:74330600-74333400	Strong transcription	Fetal Thymus	thymus
36	chr5:74330600-74337200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr5:74330600-74339400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:74330600-74339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:74330600-74339600	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:74330600-74339600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:74330600-74341800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:74330600-74342600	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:74330600-74345400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:74330600-74348000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr5:74331000-74333200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr5:74331200-74332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:74331400-74333200	Genic enhancers	Primary T cells from cord blood	blood
48	chr5:74331400-74333200	Strong transcription	Fetal Intestine Large	intestine
49	chr5:74331400-74345400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr5:74331400-74345600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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