Variant report

Variant	rs6043954
Chromosome Location	chr20:16427798-16427799
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1002911	1.00[CHD][hapmap]
rs13038383	0.85[CEU][hapmap]
rs13039876	0.85[CEU][hapmap]
rs13040354	0.85[CEU][hapmap]
rs13040454	0.85[CEU][hapmap]
rs13040489	0.85[CEU][hapmap];1.00[CHD][hapmap]
rs13041027	0.85[CEU][hapmap];1.00[CHD][hapmap]
rs13042199	0.82[CEU][hapmap]
rs13042286	0.85[CEU][hapmap]
rs13043684	0.82[CEU][hapmap];1.00[CHD][hapmap]
rs13044096	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs13044167	0.85[CEU][hapmap]
rs13044284	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs34434477	1.00[EUR][1000 genomes]
rs34937054	1.00[EUR][1000 genomes]
rs35075447	1.00[EUR][1000 genomes]
rs59088195	0.95[EUR][1000 genomes]
rs6034438	0.82[CEU][hapmap]
rs6034439	0.82[CEU][hapmap]
rs6043854	0.82[CEU][hapmap]
rs6043858	0.82[CEU][hapmap]
rs6043870	0.82[CEU][hapmap]
rs6044003	1.00[CHD][hapmap]
rs6044015	1.00[CHD][hapmap]
rs6044019	1.00[CHD][hapmap]
rs6044020	1.00[CHD][hapmap]
rs6075050	0.85[CEU][hapmap];1.00[CHD][hapmap]
rs6105607	0.82[CEU][hapmap];0.95[EUR][1000 genomes]
rs6111158	1.00[CHD][hapmap]
rs66702572	1.00[EUR][1000 genomes]
rs66831019	1.00[EUR][1000 genomes]
rs7260832	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs8117949	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs8124834	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs8126093	0.82[CEU][hapmap]

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	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16384000-16432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:16398200-16431000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:16400000-16440000	Weak transcription	NHEK	skin
5	chr20:16405400-16434600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr20:16405600-16431000	Weak transcription	Pancreas	Pancrea
7	chr20:16408600-16439200	Weak transcription	Brain Hippocampus Middle	brain
8	chr20:16409000-16431200	Weak transcription	Aorta	Aorta
9	chr20:16409200-16439400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr20:16409200-16443600	Weak transcription	Gastric	stomach
11	chr20:16409600-16431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:16410200-16437400	Weak transcription	Esophagus	oesophagus
13	chr20:16410200-16455800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:16410200-16473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr20:16410400-16431000	Weak transcription	Liver	Liver
16	chr20:16410600-16455400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr20:16411200-16439200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr20:16411200-16440000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr20:16411200-16455200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr20:16414800-16443600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr20:16417000-16431000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr20:16420200-16431800	Weak transcription	Fetal Heart	heart
23	chr20:16420200-16440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:16420400-16428800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:16420400-16431200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:16420400-16431200	Weak transcription	Primary T cells from cord blood	blood
27	chr20:16420400-16431600	Weak transcription	Primary B cells from cord blood	blood
28	chr20:16420400-16435400	Weak transcription	Fetal Intestine Large	intestine
29	chr20:16420400-16453000	Weak transcription	Left Ventricle	heart
30	chr20:16420800-16471400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr20:16422200-16431200	Weak transcription	Fetal Brain Male	brain
32	chr20:16422400-16435400	Weak transcription	Fetal Intestine Small	intestine
33	chr20:16425000-16431600	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:16425200-16431600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr20:16425200-16439400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr20:16425200-16440000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr20:16425600-16429600	Weak transcription	Fetal Lung	lung
38	chr20:16425600-16432600	Weak transcription	Fetal Stomach	stomach
39	chr20:16425800-16431000	Weak transcription	Fetal Muscle Leg	muscle
40	chr20:16425800-16443400	Weak transcription	Ovary	ovary
41	chr20:16426600-16439800	Weak transcription	Adipose Nuclei	Adipose
42	chr20:16426800-16432800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr20:16426800-16439400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:16427000-16428200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr20:16427200-16428600	Weak transcription	Psoas Muscle	Psoas
46	chr20:16427200-16431000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr20:16427200-16439400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr20:16427400-16431000	Weak transcription	Lung	lung
49	chr20:16427600-16427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr20:16427600-16438200	Weak transcription	HSMMtube	muscle

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