Variant report

Variant	rs36046953
Chromosome Location	chr17:45381791-45381792
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	chr17:45375988..45378357-chr17:45379217..45383019,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11868894	0.89[ASN][1000 genomes]
rs11870620	0.83[ASN][1000 genomes]
rs12940207	0.89[ASN][1000 genomes]
rs12950632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941802	0.88[ASN][1000 genomes]
rs1969269	0.90[EUR][1000 genomes]
rs2292864	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292866	0.90[ASN][1000 genomes]
rs35265764	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35735886	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3785872	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3892085	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72825627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 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	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45359000-45389800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr17:45371400-45393000	Weak transcription	Dnd41	blood
4	chr17:45372400-45383600	Weak transcription	Gastric	stomach
5	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
6	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
9	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
10	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
11	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
12	chr17:45375600-45381800	Strong transcription	Colon Smooth Muscle	Colon
13	chr17:45375800-45382800	Strong transcription	Fetal Stomach	stomach
14	chr17:45376000-45382600	Strong transcription	Stomach Smooth Muscle	stomach
15	chr17:45376200-45382400	Weak transcription	HSMM	muscle
16	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:45376400-45381800	Strong transcription	Placenta	Placenta
18	chr17:45376800-45381800	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr17:45377200-45383400	Weak transcription	Pancreas	Pancrea
20	chr17:45379000-45382200	Weak transcription	Hela-S3	cervix
21	chr17:45379200-45382600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr17:45379400-45382400	Weak transcription	GM12878-XiMat	blood
23	chr17:45379400-45382600	Weak transcription	K562	blood
24	chr17:45379600-45382600	Strong transcription	Fetal Muscle Leg	muscle
25	chr17:45379600-45390400	Weak transcription	Fetal Intestine Small	intestine
26	chr17:45379800-45382400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr17:45379800-45382400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr17:45379800-45382400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr17:45379800-45382600	Weak transcription	Right Ventricle	heart
30	chr17:45380000-45381800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:45380000-45382400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:45380000-45382600	Weak transcription	Adipose Nuclei	Adipose
33	chr17:45380200-45382200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr17:45380200-45382200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:45380200-45382200	Weak transcription	NHLF	lung
36	chr17:45380200-45382400	Weak transcription	HSMMtube	muscle
37	chr17:45380200-45382400	Weak transcription	NH-A	brain
38	chr17:45380200-45382600	Weak transcription	Fetal Heart	heart
39	chr17:45380200-45382600	Weak transcription	Ovary	ovary
40	chr17:45380200-45382600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr17:45380200-45383000	Weak transcription	Fetal Lung	lung
42	chr17:45380200-45392800	Weak transcription	Brain Hippocampus Middle	brain
43	chr17:45380400-45382200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:45380400-45387800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:45381000-45381800	Strong transcription	Fetal Intestine Large	intestine
46	chr17:45381200-45383800	Enhancers	NHDF-Ad	bronchial
47	chr17:45381400-45382000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:45381400-45382400	Weak transcription	Aorta	Aorta
49	chr17:45381400-45383800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr17:45381400-45392600	Weak transcription	Liver	Liver

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