Variant report

Variant	rs4655617
Chromosome Location	chr1:67010654-67010655
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10789207	0.82[ASN][1000 genomes]
rs10789208	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12083791	0.82[ASN][1000 genomes]
rs12093875	0.82[ASN][1000 genomes]
rs12144047	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1338197	0.82[ASN][1000 genomes]
rs17129012	0.82[ASN][1000 genomes]
rs1856317	0.92[JPT][hapmap]
rs2068381	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2312151	0.87[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs6662330	1.00[CHB][hapmap];0.95[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6690186	0.86[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs72677052	0.82[ASN][1000 genomes]
rs7516148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4655617	CACHD1	cis	parietal	SCAN
rs4655617	SGIP1	cis	cerebellum	SCAN
rs4655617	ANKRD13C	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67000400-67022000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:67000800-67029800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:67001200-67022000	Weak transcription	Right Ventricle	heart
4	chr1:67001600-67011000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:67003000-67012400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:67004200-67012200	Enhancers	NHDF-Ad	bronchial
7	chr1:67004200-67012400	Enhancers	Fetal Heart	heart
8	chr1:67004800-67012400	Enhancers	Brain Substantia Nigra	brain
9	chr1:67005400-67012200	Enhancers	Brain Angular Gyrus	brain
10	chr1:67006000-67011000	Enhancers	HUVEC	blood vessel
11	chr1:67006400-67011200	Weak transcription	Fetal Brain Male	brain
12	chr1:67006800-67012000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:67007000-67011400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:67007000-67021800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:67007200-67018000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:67007800-67012400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:67008000-67012400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:67008400-67010800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:67008400-67018000	Weak transcription	Lung	lung
20	chr1:67008600-67011200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:67008600-67011200	Enhancers	Brain Anterior Caudate	brain
22	chr1:67008600-67012600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:67008600-67013000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:67009000-67011000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:67009000-67019600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr1:67009200-67011400	Enhancers	Left Ventricle	heart
27	chr1:67009400-67011800	Weak transcription	Right Atrium	heart
28	chr1:67009400-67013800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:67009600-67010800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:67009600-67010800	Weak transcription	Fetal Lung	lung
31	chr1:67009600-67010800	Weak transcription	Pancreas	Pancrea
32	chr1:67009600-67010800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:67009600-67011200	Enhancers	Brain Cingulate Gyrus	brain
34	chr1:67009600-67011400	Enhancers	HepG2	liver
35	chr1:67009600-67018200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:67009600-67019600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:67009800-67028200	Weak transcription	Brain Germinal Matrix	brain
38	chr1:67010000-67013400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:67010000-67018600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr1:67010000-67018600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:67010000-67029000	Weak transcription	Fetal Kidney	kidney
42	chr1:67010600-67010800	Enhancers	Adipose Nuclei	Adipose
43	chr1:67010600-67010800	Enhancers	Fetal Brain Female	brain
44	chr1:67010600-67010800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr1:67010600-67010800	Enhancers	Osteobl	bone
46	chr1:67010600-67011000	Genic enhancers	NHLF	lung
47	chr1:67010600-67011400	Enhancers	Aorta	Aorta

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