Variant report

Variant	rs11720982
Chromosome Location	chr3:17193348-17193349
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:17191881..17194308-chr3:17196780..17198405,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1463220	0.92[CHD][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs2470346	0.95[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap]
rs4337625	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008636	chr3:17173415-17208267	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:17182400-17194400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:17183000-17198800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:17183400-17194800	Weak transcription	Left Ventricle	heart
4	chr3:17183600-17196400	Weak transcription	Fetal Heart	heart
5	chr3:17185800-17194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:17186000-17195200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr3:17186600-17195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr3:17189600-17193400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr3:17190200-17194600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr3:17190800-17194000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:17190800-17194800	Weak transcription	Gastric	stomach
12	chr3:17191000-17193400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:17191400-17217600	Weak transcription	Small Intestine	intestine
14	chr3:17191600-17193400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr3:17191600-17194000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr3:17191600-17194600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:17191800-17194600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr3:17192000-17193400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr3:17192000-17195000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:17192000-17196000	ZNF genes & repeats	Fetal Stomach	stomach
21	chr3:17192000-17196400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:17192000-17196400	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr3:17192200-17193400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr3:17192200-17194400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:17192200-17194600	Weak transcription	Fetal Lung	lung
26	chr3:17192200-17194800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:17192200-17211400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:17192600-17193400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:17192600-17193400	Weak transcription	Fetal Intestine Large	intestine
30	chr3:17192600-17194400	Weak transcription	Fetal Kidney	kidney
31	chr3:17192600-17194600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:17192600-17194800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:17192800-17194600	Enhancers	Fetal Thymus	thymus
34	chr3:17193000-17193600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:17193000-17193600	ZNF genes & repeats	Aorta	Aorta
36	chr3:17193000-17193600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr3:17193000-17193600	Enhancers	K562	blood
38	chr3:17193000-17193800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr3:17193000-17193800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:17193000-17194000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr3:17193000-17194000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr3:17193000-17194200	Flanking Active TSS	GM12878-XiMat	blood
43	chr3:17193000-17194400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr3:17193000-17194600	Flanking Active TSS	Dnd41	blood
45	chr3:17193000-17195000	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr3:17193000-17196000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
47	chr3:17193000-17196800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:17193000-17197200	ZNF genes & repeats	Spleen	Spleen
49	chr3:17193000-17198600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
50	chr3:17193200-17193400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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