Variant report

Variant	rs7167333
Chromosome Location	chr15:50599799-50599800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12438041	0.94[ASN][1000 genomes]
rs12438692	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12438726	0.94[ASN][1000 genomes]
rs12441687	0.98[ASN][1000 genomes]
rs12591072	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12591371	0.89[ASN][1000 genomes]
rs12595772	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16963635	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58035812	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61086221	1.00[ASN][1000 genomes]
rs7174329	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7181866	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8031031	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8552	0.90[ASN][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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50570400-50606600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr15:50570800-50600600	Weak transcription	Spleen	Spleen
3	chr15:50574400-50602000	Weak transcription	Small Intestine	intestine
4	chr15:50575200-50601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:50578200-50600400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:50580400-50605000	Weak transcription	Fetal Heart	heart
7	chr15:50580800-50600600	Weak transcription	Pancreas	Pancrea
8	chr15:50580800-50638400	Weak transcription	NHEK	skin
9	chr15:50581000-50600600	Weak transcription	Colonic Mucosa	Colon
10	chr15:50587200-50600400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:50589800-50602600	Weak transcription	Gastric	stomach
12	chr15:50592400-50600200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr15:50592400-50600600	Weak transcription	Esophagus	oesophagus
14	chr15:50592600-50600400	Weak transcription	NHLF	lung
15	chr15:50593200-50600000	Weak transcription	Right Ventricle	heart
16	chr15:50593400-50600600	Weak transcription	Psoas Muscle	Psoas
17	chr15:50593400-50602400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:50593600-50599800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr15:50593600-50600000	Weak transcription	Brain Hippocampus Middle	brain
20	chr15:50593600-50600200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr15:50593600-50600200	Weak transcription	Brain Angular Gyrus	brain
22	chr15:50593600-50600200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr15:50593600-50600200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:50593600-50600600	Weak transcription	Left Ventricle	heart
25	chr15:50593600-50600600	Weak transcription	Lung	lung
26	chr15:50593600-50602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:50593600-50605200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr15:50593800-50600000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr15:50593800-50600400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr15:50594000-50600200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:50594000-50600200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr15:50594000-50608400	Weak transcription	Duodenum Mucosa	Duodenum
33	chr15:50594000-50610200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr15:50594200-50600200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr15:50594200-50600600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:50594200-50603600	Weak transcription	NH-A	brain
37	chr15:50594200-50608400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr15:50594400-50600200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:50594600-50610400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr15:50594800-50600600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr15:50594800-50604400	Weak transcription	Colon Smooth Muscle	Colon
42	chr15:50595000-50600400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:50595200-50600000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:50595400-50599800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:50595400-50600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:50595600-50600200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr15:50595600-50600400	Weak transcription	Ovary	ovary
48	chr15:50596400-50600000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr15:50596400-50600000	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr15:50596400-50600000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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