Variant report

Variant	rs9894965
Chromosome Location	chr17:67235054-67235055
allele	A/G
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]
rs1476749	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16973883	0.94[ASN][1000 genomes]
rs17776943	0.86[EUR][1000 genomes]
rs2067851	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28496489	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs4553686	0.94[ASN][1000 genomes]
rs58324131	0.86[EUR][1000 genomes]
rs60350983	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6501290	0.89[EUR][1000 genomes]
rs7208451	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73998226	0.85[ASN][1000 genomes]
rs9889277	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9895649	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9910364	0.89[AFR][1000 genomes];0.94[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	nsv575932	chr17:67149973-67327806	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv457889	chr17:67210992-67332355	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a
3	nsv575934	chr17:67210992-67332355	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67144000-67236000	Weak transcription	Psoas Muscle	Psoas
2	chr17:67207600-67247800	Weak transcription	Left Ventricle	heart
3	chr17:67215600-67239200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:67215600-67249200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr17:67223000-67235600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr17:67224600-67248600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr17:67226800-67236400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:67230200-67235800	Weak transcription	Fetal Lung	lung
9	chr17:67230600-67235200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr17:67230600-67241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:67230600-67259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:67230800-67253400	Weak transcription	Fetal Muscle Leg	muscle
13	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
14	chr17:67231600-67237000	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr17:67231600-67246600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:67231800-67235200	Weak transcription	Brain Angular Gyrus	brain
17	chr17:67231800-67235800	Weak transcription	Brain Hippocampus Middle	brain
18	chr17:67231800-67236200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:67231800-67236400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr17:67231800-67236800	Weak transcription	Fetal Intestine Large	intestine
21	chr17:67231800-67238600	Weak transcription	Fetal Intestine Small	intestine
22	chr17:67231800-67239000	Weak transcription	GM12878-XiMat	blood
23	chr17:67231800-67239200	Weak transcription	Liver	Liver
24	chr17:67231800-67247000	Weak transcription	Primary T cells from cord blood	blood
25	chr17:67231800-67247000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr17:67231800-67247000	Weak transcription	HUVEC	blood vessel
27	chr17:67231800-67249000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:67231800-67252600	Weak transcription	Fetal Thymus	thymus
29	chr17:67231800-67254400	Weak transcription	Lung	lung
30	chr17:67232000-67236000	Weak transcription	Brain Anterior Caudate	brain
31	chr17:67232200-67236200	Weak transcription	Brain Substantia Nigra	brain
32	chr17:67232600-67249000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:67232800-67236200	Weak transcription	Aorta	Aorta
34	chr17:67233000-67238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:67233400-67235800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr17:67233600-67235200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr17:67233600-67245000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr17:67233800-67239800	Weak transcription	Esophagus	oesophagus
39	chr17:67234400-67240200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr17:67234600-67249200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr17:67234800-67235200	Enhancers	Adipose Nuclei	Adipose
42	chr17:67234800-67236000	Enhancers	K562	blood
43	chr17:67234800-67236400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr17:67234800-67250600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr17:67235000-67236000	Enhancers	Ovary	ovary
46	chr17:67235000-67236600	Enhancers	Brain Cingulate Gyrus	brain
47	chr17:67235000-67239400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr17:67235000-67289000	Weak transcription	Primary hematopoietic stem cells	blood

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