Variant report

Variant	rs12603582
Chromosome Location	chr17:45377577-45377578
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45366869..45368972-chr17:45376681..45378185,2	K562	blood:
2	chr17:45369846..45373285-chr17:45374240..45379330,4	K562	blood:
3	chr17:45375988..45378357-chr17:45379217..45383019,3	K562	blood:
4	chr17:45377393..45380597-chr17:45384667..45388953,5	K562	blood:
5	chr17:45377393..45379681-chr17:45383404..45387690,4	K562	blood:
6	chr17:45368833..45371722-chr17:45375915..45378676,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11079774	0.94[CHB][hapmap]
rs11655943	0.94[CHB][hapmap];0.86[ASN][1000 genomes]
rs12452315	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs12452796	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs12600603	0.84[ASN][1000 genomes]
rs1912482	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs1912483	1.00[CHB][hapmap]
rs2175290	0.94[CHB][hapmap];0.84[CHD][hapmap]
rs3809863	0.94[CHB][hapmap];0.82[CHD][hapmap];0.86[ASN][1000 genomes]
rs4968319	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs6504872	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs7206971	1.00[CHB][hapmap]
rs7209109	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214410	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs9303533	0.86[ASN][1000 genomes]
rs9674670	0.86[ASN][1000 genomes]
rs9889709	1.00[CHB][hapmap]
rs9893901	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs9912311	1.00[CHB][hapmap]
rs9915919	1.00[CHB][hapmap];0.81[CHD][hapmap]

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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12603582	C17orf57	cis	cerebellum	SCAN
rs12603582	DBF4B	cis	cerebellum	SCAN
rs12603582	SNX11	cis	parietal	SCAN
rs12603582	C17orf57	cis	parietal	SCAN
rs12603582	G6PC	cis	cerebellum	SCAN
rs12603582	VPS25	cis	parietal	SCAN
rs12603582	NPEPPS	cis	parietal	SCAN

Chromatin state (count:53 , 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	chr17:45370000-45378000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:45371400-45393000	Weak transcription	Dnd41	blood
5	chr17:45372400-45383600	Weak transcription	Gastric	stomach
6	chr17:45372400-45389600	Weak transcription	Esophagus	oesophagus
7	chr17:45372400-45389800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr17:45372400-45394400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:45372800-45377600	Weak transcription	Osteobl	bone
10	chr17:45372800-45377800	Weak transcription	HUVEC	blood vessel
11	chr17:45372800-45379200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr17:45372800-45379200	Weak transcription	Fetal Lung	lung
13	chr17:45372800-45381400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr17:45372800-45382800	Weak transcription	Colonic Mucosa	Colon
15	chr17:45373000-45377800	Weak transcription	Ovary	ovary
16	chr17:45373000-45378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:45373000-45378000	Weak transcription	K562	blood
18	chr17:45373000-45379200	Weak transcription	NHLF	lung
19	chr17:45373400-45378000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:45373600-45382600	Weak transcription	Spleen	Spleen
21	chr17:45374000-45392800	Weak transcription	Brain Substantia Nigra	brain
22	chr17:45374200-45378400	Weak transcription	Brain Angular Gyrus	brain
23	chr17:45374400-45379400	Weak transcription	Brain Hippocampus Middle	brain
24	chr17:45375400-45388400	Strong transcription	Fetal Muscle Trunk	muscle
25	chr17:45375600-45381600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:45375600-45381800	Strong transcription	Colon Smooth Muscle	Colon
27	chr17:45375800-45377600	Weak transcription	Adipose Nuclei	Adipose
28	chr17:45375800-45378800	Strong transcription	Fetal Muscle Leg	muscle
29	chr17:45375800-45379800	Strong transcription	Rectal Smooth Muscle	rectum
30	chr17:45375800-45381400	Strong transcription	Aorta	Aorta
31	chr17:45375800-45382800	Strong transcription	Fetal Stomach	stomach
32	chr17:45376000-45382600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr17:45376200-45377800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr17:45376200-45379200	Weak transcription	HSMMtube	muscle
35	chr17:45376200-45382400	Weak transcription	HSMM	muscle
36	chr17:45376200-45389200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr17:45376400-45381800	Strong transcription	Placenta	Placenta
38	chr17:45376600-45379000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:45376800-45378400	Weak transcription	Lung	lung
40	chr17:45376800-45378600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr17:45376800-45381800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr17:45377000-45379200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr17:45377200-45377600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr17:45377200-45378000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:45377200-45378200	Strong transcription	Fetal Intestine Large	intestine
46	chr17:45377200-45378200	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr17:45377200-45378800	Strong transcription	Right Ventricle	heart
48	chr17:45377200-45379000	Strong transcription	Fetal Heart	heart
49	chr17:45377200-45381000	Strong transcription	NHDF-Ad	bronchial
50	chr17:45377200-45381600	Strong transcription	Left Ventricle	heart

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