Variant report

Variant	rs11886693
Chromosome Location	chr2:31493935-31493936
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10166615	0.81[AMR][1000 genomes]
rs10177050	0.81[AMR][1000 genomes]
rs13421107	0.81[AMR][1000 genomes]
rs13429494	0.81[AMR][1000 genomes]
rs57291246	0.90[AMR][1000 genomes]
rs72861169	0.81[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31459400-31498600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr2:31462000-31495600	Weak transcription	Fetal Lung	lung
3	chr2:31463600-31501400	Weak transcription	Pancreas	Pancrea
4	chr2:31468200-31501600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:31482000-31501000	Weak transcription	Fetal Intestine Large	intestine
6	chr2:31482600-31501400	Weak transcription	Liver	Liver
7	chr2:31485400-31495600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:31486600-31510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:31487200-31494000	Weak transcription	Fetal Kidney	kidney
10	chr2:31489600-31494800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:31489600-31495200	Weak transcription	Gastric	stomach
12	chr2:31490000-31496800	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:31490000-31502400	Weak transcription	Spleen	Spleen
14	chr2:31490200-31495400	Weak transcription	Fetal Intestine Small	intestine
15	chr2:31490400-31497400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:31490600-31498600	Weak transcription	Brain Germinal Matrix	brain
17	chr2:31490800-31494200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:31491200-31494800	Weak transcription	Fetal Stomach	stomach
19	chr2:31491400-31494400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:31491400-31498600	Enhancers	Placenta	Placenta
21	chr2:31491400-31499800	Weak transcription	Fetal Brain Female	brain
22	chr2:31491600-31495000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:31491600-31495200	Enhancers	HMEC	breast
24	chr2:31491600-31495600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:31491800-31494200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:31491800-31494200	Enhancers	Osteobl	bone
27	chr2:31491800-31494400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:31491800-31495000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:31491800-31495000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:31491800-31495000	Enhancers	NHDF-Ad	bronchial
31	chr2:31491800-31495400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:31491800-31496200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:31492000-31494000	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:31492000-31494000	Weak transcription	NHLF	lung
35	chr2:31492000-31494200	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:31492000-31495600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr2:31492000-31497000	Enhancers	Fetal Heart	heart
38	chr2:31492200-31494000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:31492200-31494200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:31492200-31494200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:31492200-31494200	Enhancers	NH-A	brain
42	chr2:31492200-31497400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:31492400-31496200	Weak transcription	Left Ventricle	heart
44	chr2:31492400-31496600	Weak transcription	Right Ventricle	heart
45	chr2:31492400-31507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:31492600-31494000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:31492800-31494200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:31492800-31510600	Weak transcription	Aorta	Aorta
49	chr2:31493400-31494200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:31493400-31494400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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