Variant report

Variant	rs12438670
Chromosome Location	chr15:56411258-56411259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56404564..56406101-chr15:56409235..56411435,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071251	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11071256	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438262	1.00[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12438606	1.00[AFR][1000 genomes];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	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439453	0.83[AFR][1000 genomes]
rs12440495	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440509	0.86[AFR][1000 genomes];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]
rs12443028	1.00[AMR][1000 genomes];1.00[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	1.00[AFR][1000 genomes];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[AFR][1000 genomes];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	0.86[AFR][1000 genomes];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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4310793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56798454	0.86[AFR][1000 genomes];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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56388800-56411600	Weak transcription	Fetal Stomach	stomach
2	chr15:56388800-56414400	Weak transcription	Thymus	Thymus
3	chr15:56388800-56418400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr15:56388800-56433000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:56388800-56437200	Weak transcription	Pancreas	Pancrea
6	chr15:56388800-56441600	Weak transcription	Lung	lung
7	chr15:56389400-56418400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr15:56389400-56418400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr15:56389600-56414400	Weak transcription	HSMMtube	muscle
10	chr15:56389800-56415600	Weak transcription	Placenta	Placenta
11	chr15:56390400-56414400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:56390600-56412600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:56390600-56413200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr15:56390600-56414200	Weak transcription	Fetal Lung	lung
15	chr15:56390600-56414200	Weak transcription	Left Ventricle	heart
16	chr15:56390600-56414600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:56390600-56416400	Weak transcription	HUVEC	blood vessel
18	chr15:56390600-56417400	Weak transcription	Adipose Nuclei	Adipose
19	chr15:56390600-56418000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:56390800-56418600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:56391000-56411800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:56391800-56415800	Weak transcription	Ovary	ovary
23	chr15:56392600-56417200	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:56393800-56412400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr15:56394000-56414200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:56394000-56418200	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:56394200-56417000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:56394400-56411600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:56394400-56414000	Weak transcription	HMEC	breast
30	chr15:56394400-56414200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:56394400-56414200	Weak transcription	NH-A	brain
32	chr15:56394800-56414800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:56395000-56411600	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr15:56395000-56412600	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr15:56395000-56415800	Weak transcription	Fetal Thymus	thymus
36	chr15:56395000-56418200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:56395200-56414200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr15:56395600-56411400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:56396000-56412600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:56397000-56414200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:56397200-56414200	Weak transcription	Primary T cells from cord blood	blood
42	chr15:56397400-56412400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:56397400-56412600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr15:56398400-56413200	Weak transcription	Dnd41	blood
45	chr15:56399200-56412800	Weak transcription	HepG2	liver
46	chr15:56405400-56414200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:56405800-56411400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:56405800-56414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:56407400-56411400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:56407400-56411600	Weak transcription	Fetal Intestine Small	intestine

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