Variant report

Variant	rs12294810
Chromosome Location	chr11:108082180-108082181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:108081102..108083813-chr11:108534513..108537286,2	K562	blood:

Variant related genes	Relation type
ENSG00000178105	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11212549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11212564	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11500817	0.83[AMR][1000 genomes]
rs11501004	0.83[AMR][1000 genomes]
rs11824200	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12271119	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12276365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285440	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12286263	0.83[AMR][1000 genomes]
rs12287161	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12291829	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1800735	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2234997	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3092844	0.83[AMR][1000 genomes]
rs3092906	0.83[AMR][1000 genomes]
rs3218678	0.83[AMR][1000 genomes]
rs58937701	0.83[AMR][1000 genomes]
rs61603186	0.83[AMR][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	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv898383	chr11:108068954-108251211	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108062600-108090800	Weak transcription	Colon Smooth Muscle	Colon
2	chr11:108070600-108089800	Weak transcription	Psoas Muscle	Psoas
3	chr11:108071000-108091600	Weak transcription	Right Atrium	heart
4	chr11:108071400-108092400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:108074000-108082600	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr11:108074000-108083000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
7	chr11:108074200-108082600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:108074400-108082400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:108074400-108082600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:108074400-108090800	Weak transcription	Small Intestine	intestine
11	chr11:108074600-108082800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
12	chr11:108074600-108084000	ZNF genes & repeats	Fetal Stomach	stomach
13	chr11:108074600-108084800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:108074800-108082400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:108074800-108082600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr11:108075000-108083600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:108075400-108082600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr11:108075800-108082400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:108077600-108084000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:108077800-108089200	Weak transcription	HMEC	breast
21	chr11:108078000-108085200	Strong transcription	Fetal Lung	lung
22	chr11:108078000-108090400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr11:108078000-108090600	Weak transcription	Fetal Heart	heart
24	chr11:108078200-108082800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:108078200-108084000	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr11:108078200-108084200	Strong transcription	Primary T cells from cord blood	blood
27	chr11:108078200-108089000	Weak transcription	Osteobl	bone
28	chr11:108078200-108089400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:108078200-108089400	Weak transcription	NHDF-Ad	bronchial
30	chr11:108078400-108082200	Strong transcription	Ovary	ovary
31	chr11:108078400-108083600	Weak transcription	HUVEC	blood vessel
32	chr11:108078400-108085000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:108078400-108091800	Weak transcription	HSMMtube	muscle
34	chr11:108078600-108082200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:108078600-108082200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:108078600-108083400	Weak transcription	Left Ventricle	heart
37	chr11:108078600-108085200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:108078600-108086600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:108078600-108089800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:108078600-108089800	Weak transcription	Pancreas	Pancrea
41	chr11:108078600-108090600	Weak transcription	Aorta	Aorta
42	chr11:108078600-108090800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:108078600-108090800	Weak transcription	Brain Substantia Nigra	brain
44	chr11:108078600-108091600	Weak transcription	Right Ventricle	heart
45	chr11:108078600-108091800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr11:108078600-108091800	Weak transcription	Lung	lung
47	chr11:108078600-108092200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:108078600-108092200	Weak transcription	Esophagus	oesophagus
49	chr11:108078800-108083400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr11:108078800-108085000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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