Variant report

Variant	rs2855705
Chromosome Location	chr12:12011772-12011773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17818264	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs2238129	0.84[AFR][1000 genomes]
rs2723803	0.84[AFR][1000 genomes]
rs2855707	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11980800-12022600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:11985800-12014800	Weak transcription	Fetal Brain Female	brain
3	chr12:11987000-12013000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:11987600-12038000	Weak transcription	Hela-S3	cervix
5	chr12:11989400-12023000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:11992600-12012600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr12:11992600-12014600	Weak transcription	NHEK	skin
8	chr12:11992600-12015600	Weak transcription	NHLF	lung
9	chr12:11992600-12015800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:11993000-12019000	Weak transcription	A549	lung
11	chr12:11993600-12014000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:11994600-12013000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:11995600-12014000	Weak transcription	Psoas Muscle	Psoas
14	chr12:11996400-12022600	Weak transcription	HSMM	muscle
15	chr12:12000800-12011800	Weak transcription	Left Ventricle	heart
16	chr12:12004000-12013600	Weak transcription	HepG2	liver
17	chr12:12004600-12016600	Weak transcription	Ovary	ovary
18	chr12:12005000-12022400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:12006200-12014800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:12006200-12015200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:12006400-12012000	Strong transcription	Fetal Intestine Large	intestine
22	chr12:12006400-12014000	Strong transcription	Osteobl	bone
23	chr12:12006800-12015600	Weak transcription	NHDF-Ad	bronchial
24	chr12:12007400-12012600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:12007400-12013000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:12008200-12011800	Strong transcription	Rectal Smooth Muscle	rectum
27	chr12:12008200-12012200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr12:12008600-12013400	Strong transcription	Fetal Lung	lung
29	chr12:12008800-12013000	Weak transcription	Right Atrium	heart
30	chr12:12008800-12018600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:12009000-12012600	Weak transcription	Fetal Heart	heart
32	chr12:12009000-12018800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:12009400-12011800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:12009400-12011800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:12009400-12012000	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr12:12009400-12012000	Strong transcription	Liver	Liver
37	chr12:12009400-12012000	Strong transcription	Placenta	Placenta
38	chr12:12009400-12012600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr12:12009400-12013200	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:12009400-12017000	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:12009400-12017800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr12:12009400-12030800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr12:12009600-12011800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:12009600-12012600	Weak transcription	Adipose Nuclei	Adipose
45	chr12:12009600-12012600	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:12009600-12012800	Weak transcription	Spleen	Spleen
47	chr12:12009600-12013000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr12:12009600-12013000	Weak transcription	Lung	lung
49	chr12:12009600-12013000	Strong transcription	Dnd41	blood
50	chr12:12009600-12013200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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