Variant report

Variant	rs6005718
Chromosome Location	chr22:28510534-28510535
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12157776	1.00[AMR][1000 genomes]
rs12158391	1.00[AMR][1000 genomes]
rs12159201	1.00[AMR][1000 genomes]
rs12159396	1.00[AMR][1000 genomes]
rs5997329	1.00[AMR][1000 genomes]
rs5997339	1.00[AMR][1000 genomes]
rs5997340	1.00[AMR][1000 genomes]
rs6005707	1.00[AMR][1000 genomes]
rs6005753	1.00[AMR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28487600-28517200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr22:28496600-28517200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr22:28498200-28510800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr22:28501400-28512600	Weak transcription	Fetal Kidney	kidney
5	chr22:28501600-28512000	Weak transcription	Esophagus	oesophagus
6	chr22:28501600-28517000	Weak transcription	Brain Angular Gyrus	brain
7	chr22:28502000-28515000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:28502400-28535800	Weak transcription	Right Ventricle	heart
9	chr22:28504200-28510800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:28504200-28514600	Weak transcription	Brain Germinal Matrix	brain
11	chr22:28504400-28512200	Weak transcription	Aorta	Aorta
12	chr22:28504400-28513200	Weak transcription	HepG2	liver
13	chr22:28504400-28516400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:28505200-28512800	Weak transcription	Dnd41	blood
15	chr22:28507600-28510600	Enhancers	Fetal Heart	heart
16	chr22:28507800-28510800	Enhancers	Colon Smooth Muscle	Colon
17	chr22:28508600-28511000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr22:28508800-28514800	Weak transcription	Fetal Intestine Small	intestine
19	chr22:28508800-28516600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr22:28509000-28510600	Weak transcription	NHEK	skin
21	chr22:28509000-28511200	Weak transcription	Lung	lung
22	chr22:28509000-28512000	Weak transcription	Pancreas	Pancrea
23	chr22:28509000-28512600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:28509000-28517200	Weak transcription	Stomach Mucosa	stomach
25	chr22:28509200-28510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:28509200-28511400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:28509200-28511400	Weak transcription	HSMMtube	muscle
28	chr22:28509200-28511800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr22:28509200-28511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr22:28509200-28512000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:28509200-28512000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr22:28509200-28512200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr22:28509200-28512200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr22:28509200-28512600	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr22:28509200-28514400	Weak transcription	Adipose Nuclei	Adipose
36	chr22:28509200-28514800	Weak transcription	Fetal Brain Female	brain
37	chr22:28509400-28511400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr22:28509400-28511400	Weak transcription	NH-A	brain
39	chr22:28509400-28511800	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr22:28509400-28512600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr22:28509400-28516400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr22:28509400-28516800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:28509600-28510600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:28509600-28510600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr22:28509600-28510600	Weak transcription	Left Ventricle	heart
46	chr22:28509600-28511200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:28509600-28511200	Weak transcription	HSMM	muscle
48	chr22:28509600-28511400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:28509600-28511600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr22:28509600-28511600	Weak transcription	Stomach Smooth Muscle	stomach

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