Variant report

Variant	rs1974721
Chromosome Location	chr17:17040820-17040821
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10852847	0.85[EUR][1000 genomes]
rs11078374	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11078376	0.80[EUR][1000 genomes]
rs11867506	0.80[EUR][1000 genomes]
rs2349646	0.80[AMR][1000 genomes]
rs28461224	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4985696	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4985717	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4985740	0.82[AMR][1000 genomes]
rs7207485	0.82[AMR][1000 genomes]
rs7208929	0.80[AMR][1000 genomes]
rs7217091	0.82[AMR][1000 genomes]
rs7221842	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8072184	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9893911	0.80[AMR][1000 genomes]
rs9914671	0.97[AMR][1000 genomes];0.91[EUR][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	nsv907728	chr17:17013189-17095487	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv984510	chr17:17015688-17048858	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv524958	chr17:17029718-17060805	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17024200-17043200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr17:17024600-17045600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17027400-17042400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr17:17027400-17043000	Strong transcription	NHEK	skin
5	chr17:17027400-17043400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:17029800-17043400	Strong transcription	NHLF	lung
7	chr17:17029800-17044200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr17:17029800-17088400	Strong transcription	Dnd41	blood
9	chr17:17030000-17041800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr17:17030000-17042800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr17:17030000-17042800	Strong transcription	A549	lung
12	chr17:17030000-17043200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:17030000-17043200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr17:17030000-17043600	Strong transcription	Esophagus	oesophagus
15	chr17:17030000-17048200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr17:17030000-17052200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr17:17030000-17088000	Strong transcription	Duodenum Mucosa	Duodenum
18	chr17:17030200-17042800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr17:17030200-17043800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:17030200-17051600	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr17:17030200-17055000	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr17:17030400-17043800	Strong transcription	Adipose Nuclei	Adipose
23	chr17:17030400-17044800	Strong transcription	Primary B cells from cord blood	blood
24	chr17:17030400-17047600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:17030400-17047800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:17030400-17055800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr17:17030400-17059800	Strong transcription	Fetal Intestine Small	intestine
28	chr17:17030400-17079200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:17030400-17089200	Strong transcription	Fetal Intestine Large	intestine
30	chr17:17030600-17042800	Strong transcription	Osteobl	bone
31	chr17:17030600-17045000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr17:17030600-17051000	Strong transcription	Colonic Mucosa	Colon
33	chr17:17030800-17042800	Strong transcription	Thymus	Thymus
34	chr17:17030800-17043400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:17031000-17043600	Strong transcription	HSMM	muscle
36	chr17:17031000-17078800	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr17:17031200-17057200	Strong transcription	Primary T cells from cord blood	blood
38	chr17:17031200-17067800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr17:17031400-17042400	Strong transcription	Ovary	ovary
40	chr17:17031400-17051800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:17032000-17055000	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr17:17032000-17073800	Strong transcription	Fetal Lung	lung
43	chr17:17032200-17044000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr17:17032200-17048200	Weak transcription	Right Atrium	heart
45	chr17:17032200-17051800	Strong transcription	Pancreas	Pancrea
46	chr17:17032200-17073600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:17032400-17051600	Strong transcription	Gastric	stomach
48	chr17:17033000-17043600	Strong transcription	HSMMtube	muscle
49	chr17:17033000-17045000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:17033200-17043000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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