Variant report

Variant	rs12294457
Chromosome Location	chr11:94512853-94512854
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:94501203..94503159-chr11:94512241..94514271,2	K562	blood:
2	chr11:94511742..94514553-chr11:94515398..94518558,3	K562	blood:
3	chr11:94500437..94505978-chr11:94508795..94512883,5	K562	blood:
4	chr11:94512767..94515451-chr11:94518485..94521279,3	K562	blood:
5	chr11:94506655..94509597-chr11:94512174..94516292,5	K562	blood:
6	chr11:94510640..94514831-chr11:94519779..94523218,3	K562	blood:

Variant related genes	Relation type
ENSG00000166025	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12278340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291566	1.00[EUR][1000 genomes]
rs12786204	1.00[EUR][1000 genomes]
rs12799237	1.00[EUR][1000 genomes]
rs12808355	1.00[EUR][1000 genomes]
rs34840079	1.00[EUR][1000 genomes]
rs34917558	1.00[EUR][1000 genomes]
rs35011724	1.00[EUR][1000 genomes]
rs35164064	1.00[EUR][1000 genomes]
rs35708933	1.00[EUR][1000 genomes]
rs35720344	1.00[EUR][1000 genomes]
rs71459739	1.00[EUR][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	nsv832234	chr11:94462190-94611845	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv898186	chr11:94463093-94611845	Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:94503400-94513600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:94503400-94534000	Weak transcription	Brain Substantia Nigra	brain
3	chr11:94505600-94513400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr11:94507800-94513200	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:94509400-94513600	Weak transcription	Primary T cells from cord blood	blood
6	chr11:94509600-94513400	Weak transcription	Fetal Kidney	kidney
7	chr11:94509600-94513400	Weak transcription	Ovary	ovary
8	chr11:94509800-94513400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:94510000-94513200	Weak transcription	Right Atrium	heart
10	chr11:94510000-94513400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:94510000-94513400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:94510000-94513400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:94510000-94513400	Weak transcription	Fetal Stomach	stomach
14	chr11:94510000-94513600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:94510000-94513800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr11:94510000-94513800	Weak transcription	Aorta	Aorta
17	chr11:94510000-94514000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:94510000-94514400	Weak transcription	Left Ventricle	heart
19	chr11:94510000-94516400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:94510000-94517000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:94510000-94517800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:94510000-94518000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:94510000-94518200	Weak transcription	Fetal Brain Male	brain
24	chr11:94510000-94518600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:94510000-94518800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:94510000-94518800	Weak transcription	Lung	lung
27	chr11:94510000-94518800	Weak transcription	Pancreas	Pancrea
28	chr11:94510000-94521200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:94510000-94521600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:94510000-94527400	Weak transcription	Esophagus	oesophagus
31	chr11:94510000-94532800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:94510200-94513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:94510200-94513200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:94510200-94513400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:94510200-94513400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:94510200-94513400	Weak transcription	Adipose Nuclei	Adipose
37	chr11:94510200-94513400	Weak transcription	Fetal Muscle Leg	muscle
38	chr11:94510200-94513400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:94510200-94513600	Weak transcription	Small Intestine	intestine
40	chr11:94510200-94513600	Weak transcription	Thymus	Thymus
41	chr11:94510200-94513800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:94510200-94516800	Weak transcription	Brain Anterior Caudate	brain
43	chr11:94510200-94517800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:94510200-94518000	Weak transcription	Brain Germinal Matrix	brain
45	chr11:94510200-94518200	Weak transcription	Stomach Mucosa	stomach
46	chr11:94510200-94523800	Weak transcription	Fetal Brain Female	brain
47	chr11:94510400-94513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:94510400-94513200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr11:94510400-94513200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:94510400-94513200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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