Variant report

Variant	rs72625914
Chromosome Location	chr17:33992028-33992029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:33984816..33987064-chr17:33989819..33992082,2	K562	blood:
2	chr17:33983734..33986316-chr17:33989819..33992432,2	K562	blood:
3	chr17:33990380..33993199-chr17:33997435..33999392,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10491116	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10512473	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12600769	1.00[AFR][1000 genomes]
rs12604052	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1531057	1.00[AFR][1000 genomes]
rs16971128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16971156	0.83[AMR][1000 genomes]
rs16971271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2240902	0.82[EUR][1000 genomes]
rs2240903	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2278951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3785760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3785762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3826401	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3826403	0.82[EUR][1000 genomes]
rs8081740	0.82[EUR][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	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
5	chr17:33948800-34010600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:33949200-34001200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr17:33954600-34001800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:33954600-34006000	Weak transcription	Stomach Mucosa	stomach
9	chr17:33958200-33992400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:33958200-33992400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:33960000-34024600	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:33963400-34001200	Weak transcription	Aorta	Aorta
13	chr17:33966000-34002000	Strong transcription	Primary T cells from cord blood	blood
14	chr17:33968000-33997600	Weak transcription	HSMMtube	muscle
15	chr17:33968000-34055800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:33968400-33997800	Weak transcription	Brain Substantia Nigra	brain
17	chr17:33969000-34001200	Weak transcription	Right Ventricle	heart
18	chr17:33969400-34001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:33969600-33997600	Weak transcription	Brain Anterior Caudate	brain
20	chr17:33969600-33998600	Weak transcription	Fetal Brain Male	brain
21	chr17:33970000-33995400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr17:33970000-33997800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr17:33970400-34001200	Weak transcription	Small Intestine	intestine
24	chr17:33971200-33997800	Weak transcription	Colon Smooth Muscle	Colon
25	chr17:33972000-33998800	Weak transcription	Ovary	ovary
26	chr17:33974400-33992600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr17:33975000-34025800	Strong transcription	Primary B cells from peripheral blood	blood
28	chr17:33975400-33992800	Strong transcription	Primary B cells from cord blood	blood
29	chr17:33977000-33994600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr17:33977200-33993800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:33977200-34010400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr17:33977800-33997800	Weak transcription	Gastric	stomach
33	chr17:33978000-33997800	Weak transcription	Lung	lung
34	chr17:33978000-34001200	Weak transcription	Brain Angular Gyrus	brain
35	chr17:33978200-33997800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr17:33978200-33997800	Weak transcription	Fetal Brain Female	brain
37	chr17:33979400-34016600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:33980800-33998200	Weak transcription	Brain Germinal Matrix	brain
39	chr17:33981400-33997800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:33981400-34001200	Weak transcription	Pancreas	Pancrea
41	chr17:33981600-33997800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr17:33982000-33992400	Weak transcription	Fetal Intestine Small	intestine
43	chr17:33982000-33993200	Weak transcription	Left Ventricle	heart
44	chr17:33982000-34007400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:33982400-33993400	Strong transcription	A549	lung
46	chr17:33984000-33992400	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr17:33984000-33994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr17:33984200-33992400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr17:33984200-33993000	Strong transcription	HMEC	breast
50	chr17:33984600-33992400	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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