Variant report

Variant	rs58324131
Chromosome Location	chr17:67231549-67231550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66772997..66774498-chr17:67231272..67232303,7	MCF-7	breast:
2	chr17:66790395..66791436-chr17:67231389..67232511,9	MCF-7	breast:
3	chr17:66771816..66772541-chr17:67231409..67232190,2	MCF-7	breast:
4	chr17:66773286..66774313-chr17:67231274..67232262,6	K562	blood:
5	chr17:66902528..66903323-chr17:67231354..67232021,3	MCF-7	breast:
6	chr17:66769983..66770620-chr17:67231549..67232261,2	K562	blood:
7	chr17:67053549..67054222-chr17:67231372..67232130,2	MCF-7	breast:
8	chr17:66772730..66774171-chr17:67231346..67232744,9	MCF-7	breast:
9	chr17:66968043..66969072-chr17:67231311..67232174,4	MCF-7	breast:
10	chr17:66759937..66761790-chr17:67229157..67232001,2	MCF-7	breast:
11	chr17:66767706..66768902-chr17:67231321..67232342,10	MCF-7	breast:
12	chr17:66770108..66771310-chr17:67231378..67232223,4	MCF-7	breast:

No data

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs16973622	1.00[ASN][1000 genomes]
rs16973883	1.00[AMR][1000 genomes]
rs16973905	0.85[AMR][1000 genomes]
rs17776943	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28496489	1.00[AMR][1000 genomes]
rs28592152	0.85[AMR][1000 genomes]
rs4331393	1.00[ASN][1000 genomes]
rs4553686	0.95[AMR][1000 genomes]
rs4968854	0.85[AMR][1000 genomes]
rs6501290	0.89[EUR][1000 genomes]
rs7208451	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7225918	0.81[AMR][1000 genomes]
rs758255	1.00[ASN][1000 genomes]
rs9302899	0.81[AMR][1000 genomes]
rs9889277	1.00[AMR][1000 genomes]
rs9894965	0.86[EUR][1000 genomes]
rs9895649	0.86[EUR][1000 genomes]
rs9908248	0.81[AMR][1000 genomes]
rs9910364	0.95[AMR][1000 genomes]
rs9912665	0.81[AMR][1000 genomes]
rs9916644	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv516799	chr17:67210267-67231581	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	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
4	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:47 , 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	chr17:67225200-67231600	Weak transcription	Ovary	ovary
8	chr17:67226800-67236400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr17:67229400-67233200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:67230200-67235800	Weak transcription	Fetal Lung	lung
11	chr17:67230400-67231800	Enhancers	Brain Hippocampus Middle	brain
12	chr17:67230600-67235200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr17:67230600-67241400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:67230600-67259600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:67230800-67253400	Weak transcription	Fetal Muscle Leg	muscle
16	chr17:67230800-67271800	Weak transcription	Pancreas	Pancrea
17	chr17:67231000-67234400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr17:67231200-67231800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:67231200-67231800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:67231200-67231800	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr17:67231200-67231800	Enhancers	Brain Angular Gyrus	brain
22	chr17:67231200-67231800	Enhancers	HUVEC	blood vessel
23	chr17:67231200-67231800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr17:67231200-67231800	Enhancers	Osteobl	bone
25	chr17:67231200-67232000	Enhancers	Brain Anterior Caudate	brain
26	chr17:67231200-67232000	Enhancers	Brain Cingulate Gyrus	brain
27	chr17:67231400-67231600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr17:67231400-67231600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr17:67231400-67231800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr17:67231400-67231800	Enhancers	Primary B cells from cord blood	blood
31	chr17:67231400-67231800	Enhancers	Primary B cells from peripheral blood	blood
32	chr17:67231400-67231800	Enhancers	Primary T cells from cord blood	blood
33	chr17:67231400-67231800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr17:67231400-67231800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:67231400-67231800	Enhancers	Adipose Nuclei	Adipose
36	chr17:67231400-67231800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr17:67231400-67231800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:67231400-67231800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr17:67231400-67231800	Enhancers	Fetal Intestine Large	intestine
40	chr17:67231400-67231800	Enhancers	Fetal Intestine Small	intestine
41	chr17:67231400-67231800	Enhancers	Stomach Mucosa	stomach
42	chr17:67231400-67231800	Enhancers	GM12878-XiMat	blood
43	chr17:67231400-67231800	Enhancers	Hela-S3	cervix
44	chr17:67231400-67231800	Enhancers	HepG2	liver
45	chr17:67231400-67231800	Enhancers	K562	blood
46	chr17:67231400-67231800	Enhancers	NHDF-Ad	bronchial
47	chr17:67231400-67232200	Enhancers	Brain Substantia Nigra	brain

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