Variant report

Variant	rs12450223
Chromosome Location	chr17:60084943-60084944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60084305..60086239-chr17:60141726..60143519,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10512492	0.86[ASN][1000 genomes]
rs12600727	0.88[AMR][1000 genomes]
rs16945753	0.86[ASN][1000 genomes]
rs16945756	0.84[ASN][1000 genomes]
rs16945759	0.84[ASN][1000 genomes]
rs16945801	0.84[ASN][1000 genomes]
rs28654524	0.81[ASN][1000 genomes]
rs57137451	0.82[ASN][1000 genomes]
rs57746689	0.86[ASN][1000 genomes]
rs58085921	0.94[AMR][1000 genomes]
rs58241345	0.84[ASN][1000 genomes]
rs58335059	0.86[ASN][1000 genomes]
rs60053512	0.86[ASN][1000 genomes]
rs7218724	0.84[ASN][1000 genomes]
rs7221089	0.86[ASN][1000 genomes]
rs8065778	0.86[ASN][1000 genomes]
rs8066964	0.86[ASN][1000 genomes]
rs8074890	0.85[ASN][1000 genomes]
rs9630736	0.85[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	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60021200-60097000	Strong transcription	Dnd41	blood
2	chr17:60025400-60107600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:60033000-60128400	Weak transcription	Stomach Mucosa	stomach
4	chr17:60042800-60105200	Weak transcription	Psoas Muscle	Psoas
5	chr17:60048800-60097600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr17:60050200-60100800	Weak transcription	Small Intestine	intestine
7	chr17:60059000-60088000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr17:60060400-60086800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr17:60060400-60088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:60060400-60090600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr17:60060400-60096200	Weak transcription	Fetal Brain Male	brain
12	chr17:60060400-60098800	Weak transcription	Gastric	stomach
13	chr17:60060400-60099800	Weak transcription	Aorta	Aorta
14	chr17:60061600-60099600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:60062400-60086400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr17:60062400-60106800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr17:60064800-60088200	Weak transcription	Pancreas	Pancrea
18	chr17:60067800-60086400	Weak transcription	HMEC	breast
19	chr17:60069200-60107600	Weak transcription	Spleen	Spleen
20	chr17:60069400-60087000	Weak transcription	Left Ventricle	heart
21	chr17:60069600-60099000	Weak transcription	Colonic Mucosa	Colon
22	chr17:60069800-60087800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr17:60070200-60088000	Weak transcription	NHEK	skin
24	chr17:60070800-60086400	Weak transcription	Fetal Brain Female	brain
25	chr17:60072200-60087800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr17:60072400-60087000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr17:60072400-60100600	Weak transcription	Right Ventricle	heart
28	chr17:60074600-60088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr17:60074600-60123800	Weak transcription	Right Atrium	heart
30	chr17:60074800-60086800	Weak transcription	HSMMtube	muscle
31	chr17:60074800-60087400	Weak transcription	Brain Angular Gyrus	brain
32	chr17:60075000-60092800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr17:60075800-60085200	Strong transcription	HepG2	liver
34	chr17:60075800-60086400	Weak transcription	Adipose Nuclei	Adipose
35	chr17:60075800-60086400	Weak transcription	NHDF-Ad	bronchial
36	chr17:60075800-60087600	Weak transcription	Brain Substantia Nigra	brain
37	chr17:60075800-60087600	Weak transcription	Fetal Heart	heart
38	chr17:60075800-60088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr17:60075800-60114400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr17:60076000-60085800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr17:60076000-60087800	Weak transcription	NHLF	lung
42	chr17:60076200-60086800	Weak transcription	Brain Anterior Caudate	brain
43	chr17:60076200-60087400	Weak transcription	Brain Hippocampus Middle	brain
44	chr17:60076200-60087600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
46	chr17:60077400-60088200	Weak transcription	Ovary	ovary
47	chr17:60077800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr17:60078000-60086600	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr17:60079000-60086800	Weak transcription	HUVEC	blood vessel
50	chr17:60079200-60085800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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