Variant report

Variant	rs748970
Chromosome Location	chr15:56391731-56391732
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56389724..56392498-chr15:56393728..56396342,2	K562	blood:
2	chr15:56281435..56283774-chr15:56390486..56392704,2	MCF-7	breast:
3	chr15:56389724..56392748-chr15:56393728..56397126,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1031077	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10518839	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10518843	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs10851601	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10851603	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11071245	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11071246	0.84[ASN][1000 genomes]
rs11071250	0.82[ASN][1000 genomes]
rs11071252	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11071253	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11071254	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11629674	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs11631518	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs11632087	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11632091	0.90[CHB][hapmap];0.92[JPT][hapmap]
rs11634404	0.90[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs11636040	0.81[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs11637507	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11637789	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12437864	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12439682	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12439907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440142	0.82[EUR][1000 genomes]
rs12442539	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12443118	0.89[ASN][1000 genomes]
rs12443429	0.94[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12591270	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12591294	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12592096	0.81[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12592449	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12593569	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs12594941	0.86[CHB][hapmap]
rs12595072	0.91[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs12595557	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs12595840	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1550586	0.90[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs16976760	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16976788	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16976826	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16976847	0.86[CHB][hapmap]
rs1867089	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs1879344	0.91[CHB][hapmap];0.92[JPT][hapmap]
rs1879347	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1879348	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1879349	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2682045	0.83[JPT][hapmap]
rs2718930	0.94[CEU][hapmap]
rs34383693	0.86[ASN][1000 genomes]
rs35371323	0.84[ASN][1000 genomes]
rs3803459	0.97[ASN][1000 genomes]
rs4142481	0.98[ASN][1000 genomes]
rs4363812	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55946012	0.85[ASN][1000 genomes]
rs58036957	0.86[ASN][1000 genomes]
rs58265497	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59025920	0.86[ASN][1000 genomes]
rs59230019	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60417530	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61072507	0.85[ASN][1000 genomes]
rs61373424	0.98[ASN][1000 genomes]
rs61466134	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66670902	0.84[ASN][1000 genomes]
rs68127612	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs68187092	0.91[ASN][1000 genomes]
rs72736464	0.84[ASN][1000 genomes]
rs72736479	0.89[ASN][1000 genomes]
rs72736495	0.86[ASN][1000 genomes]
rs72736498	0.86[ASN][1000 genomes]
rs72738604	0.82[ASN][1000 genomes]
rs72738607	0.82[ASN][1000 genomes]
rs72738608	0.81[ASN][1000 genomes]
rs72738615	0.81[ASN][1000 genomes]
rs72738620	0.81[ASN][1000 genomes]
rs72740505	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs764014	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs8027386	0.83[AMR][1000 genomes];0.89[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:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56381600-56397000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:56382200-56399200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:56382800-56395800	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:56383200-56395600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:56383400-56395200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:56383800-56394200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:56383800-56398400	Strong transcription	Dnd41	blood
8	chr15:56384000-56395800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr15:56384600-56395000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:56385000-56394000	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr15:56385000-56394800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:56385600-56394000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:56385600-56394400	Strong transcription	Liver	Liver
14	chr15:56385600-56394800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:56385600-56405600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:56385800-56394000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:56386200-56395000	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:56386400-56397400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr15:56386600-56396200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:56387400-56396000	Weak transcription	Fetal Heart	heart
21	chr15:56387600-56394000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:56388400-56402000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:56388800-56392000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:56388800-56392000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:56388800-56392200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:56388800-56392200	Weak transcription	Brain Hippocampus Middle	brain
27	chr15:56388800-56393400	Weak transcription	NHEK	skin
28	chr15:56388800-56396000	Weak transcription	Colonic Mucosa	Colon
29	chr15:56388800-56396200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr15:56388800-56396400	Weak transcription	Gastric	stomach
31	chr15:56388800-56396400	Weak transcription	Right Ventricle	heart
32	chr15:56388800-56396600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:56388800-56397400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:56388800-56398400	Weak transcription	Esophagus	oesophagus
35	chr15:56388800-56399000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:56388800-56399200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr15:56388800-56400600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:56388800-56403400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:56388800-56411600	Weak transcription	Fetal Stomach	stomach
40	chr15:56388800-56414400	Weak transcription	Thymus	Thymus
41	chr15:56388800-56418400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:56388800-56433000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:56388800-56437200	Weak transcription	Pancreas	Pancrea
44	chr15:56388800-56441600	Weak transcription	Lung	lung
45	chr15:56389000-56394800	Weak transcription	Fetal Brain Female	brain
46	chr15:56389000-56397200	Weak transcription	Hela-S3	cervix
47	chr15:56389000-56398400	Weak transcription	K562	blood
48	chr15:56389200-56395200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr15:56389200-56396600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:56389400-56392800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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