Variant report

Variant	rs12291411
Chromosome Location	chr11:63518450-63518451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63516356..63519333-chr11:63535797..63537370,2	K562	blood:
2	chr11:63517407..63520689-chr11:63520908..63522772,3	K562	blood:

Variant related genes	Relation type
ENSG00000255651	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4980510	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr11:63473000-63529400	Weak transcription	Right Ventricle	heart
2	chr11:63486200-63519200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:63488000-63519800	Weak transcription	NH-A	brain
4	chr11:63491000-63529600	Weak transcription	Pancreas	Pancrea
5	chr11:63492800-63528000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:63499000-63518600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:63501800-63530000	Weak transcription	Psoas Muscle	Psoas
8	chr11:63506200-63527600	Weak transcription	Fetal Brain Male	brain
9	chr11:63506400-63518600	Weak transcription	Hela-S3	cervix
10	chr11:63506400-63518600	Weak transcription	HSMM	muscle
11	chr11:63509000-63534800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:63511000-63534800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:63511200-63529800	Weak transcription	Stomach Mucosa	stomach
14	chr11:63512000-63524800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr11:63513600-63528400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:63513800-63529200	Weak transcription	Fetal Heart	heart
17	chr11:63514000-63519000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:63514000-63519800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:63514200-63518600	Weak transcription	Primary B cells from cord blood	blood
20	chr11:63514200-63519800	Weak transcription	Ovary	ovary
21	chr11:63514400-63528400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr11:63514400-63528800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr11:63514800-63519800	Weak transcription	NHEK	skin
24	chr11:63515000-63518600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:63515000-63518600	Weak transcription	NHDF-Ad	bronchial
26	chr11:63515000-63529800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr11:63515400-63527200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:63515600-63518600	Weak transcription	NHLF	lung
29	chr11:63515800-63527600	Weak transcription	Fetal Lung	lung
30	chr11:63515800-63529200	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:63516000-63520200	Strong transcription	Thymus	Thymus
32	chr11:63516000-63520800	Strong transcription	Fetal Thymus	thymus
33	chr11:63516000-63521800	Strong transcription	Lung	lung
34	chr11:63516000-63534800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:63516200-63518600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:63516200-63518600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr11:63516200-63520800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:63516200-63521800	Strong transcription	Fetal Stomach	stomach
39	chr11:63516400-63521600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr11:63516400-63521800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:63516400-63521800	Strong transcription	Brain Germinal Matrix	brain
42	chr11:63516400-63527400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr11:63516400-63528400	Strong transcription	Adipose Nuclei	Adipose
44	chr11:63516400-63533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:63516400-63534200	Weak transcription	Primary B cells from peripheral blood	blood
46	chr11:63516600-63520800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr11:63516600-63521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:63516600-63521200	Strong transcription	Fetal Intestine Large	intestine
49	chr11:63516600-63521400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:63516600-63521400	Strong transcription	Fetal Muscle Trunk	muscle

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