Variant report

Variant	rs12443028
Chromosome Location	chr15:56416396-56416397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10444835	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071244	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071251	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071256	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438525	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439033	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439133	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440495	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440509	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440898	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441580	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12443486	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976721	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976722	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976737	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976776	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976787	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976793	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976808	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16976820	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16976824	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2718927	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28895323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310793	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56798454	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7180561	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7181011	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv833018	chr15:56325799-56492535	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1045906	chr15:56333180-56473614	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56388800-56418400	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:56388800-56433000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:56388800-56437200	Weak transcription	Pancreas	Pancrea
4	chr15:56388800-56441600	Weak transcription	Lung	lung
5	chr15:56389400-56418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr15:56389400-56418400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:56390600-56416400	Weak transcription	HUVEC	blood vessel
8	chr15:56390600-56417400	Weak transcription	Adipose Nuclei	Adipose
9	chr15:56390600-56418000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:56390800-56418600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:56392600-56417200	Weak transcription	Brain Hippocampus Middle	brain
12	chr15:56394000-56418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr15:56394200-56417000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr15:56395000-56418200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:56408000-56418200	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:56409400-56418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:56410800-56419400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:56411400-56424000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:56411600-56436800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:56411800-56418600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:56411800-56419600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:56412000-56418200	Weak transcription	Gastric	stomach
23	chr15:56412200-56420400	Weak transcription	Colonic Mucosa	Colon
24	chr15:56412400-56423200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr15:56412600-56419600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:56412600-56422000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:56412800-56418400	Weak transcription	Psoas Muscle	Psoas
28	chr15:56413000-56417600	Weak transcription	NHEK	skin
29	chr15:56413200-56423800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
30	chr15:56413400-56418600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr15:56413400-56419400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr15:56413400-56441600	Weak transcription	Spleen	Spleen
33	chr15:56413600-56421800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr15:56413800-56418400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:56413800-56418400	Weak transcription	Colon Smooth Muscle	Colon
36	chr15:56414000-56417200	Strong transcription	HMEC	breast
37	chr15:56414000-56418400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr15:56414000-56418600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr15:56414000-56419200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr15:56414200-56416400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr15:56414200-56416400	Strong transcription	NH-A	brain
42	chr15:56414200-56416800	Strong transcription	Fetal Lung	lung
43	chr15:56414200-56416800	ZNF genes & repeats	GM12878-XiMat	blood
44	chr15:56414200-56417000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:56414200-56417400	Strong transcription	Primary T cells from cord blood	blood
46	chr15:56414200-56417800	Strong transcription	HSMM	muscle
47	chr15:56414200-56419000	Weak transcription	Osteobl	bone
48	chr15:56414200-56419400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr15:56414400-56416400	ZNF genes & repeats	Fetal Intestine Small	intestine
50	chr15:56414400-56416800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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