Variant report

Variant	rs34422548
Chromosome Location	chr11:47416004-47416005
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47413542..47416726-chr11:47428745..47432834,3	MCF-7	breast:
2	chr11:47395359..47404298-chr11:47408556..47417905,22	K562	blood:
3	chr11:47412485..47416109-chr11:47429028..47432414,5	K562	blood:
4	chr11:47411629..47418031-chr11:47425327..47431880,15	K562	blood:
5	chr11:47404462..47406012-chr11:47414080..47416548,2	K562	blood:

Variant related genes	Relation type
ENSG00000255197	Chromatin interaction
ENSG00000165915	Chromatin interaction
ENSG00000066336	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs67132220	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv917316	chr11:47232210-47448882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	esv3330173	chr11:47289256-47450681	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	esv3416377	chr11:47289276-47450651	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv825871	chr11:47376020-47457537	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv554210	chr11:47380593-47449544	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
8	nsv541034	chr11:47404083-47440081	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
9	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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 miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47399400-47421400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:47399800-47421200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:47400000-47416800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:47400000-47421200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr11:47408400-47418000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:47409200-47417800	Enhancers	Spleen	Spleen
7	chr11:47409800-47417600	Enhancers	Fetal Muscle Leg	muscle
8	chr11:47410000-47416800	Weak transcription	Brain Substantia Nigra	brain
9	chr11:47410200-47421200	Weak transcription	Fetal Intestine Small	intestine
10	chr11:47412000-47416200	Enhancers	GM12878-XiMat	blood
11	chr11:47412400-47417800	Enhancers	Fetal Muscle Trunk	muscle
12	chr11:47412600-47417800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:47413000-47417800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:47413600-47416600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:47414200-47416400	Enhancers	Left Ventricle	heart
16	chr11:47414200-47417800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:47414400-47417600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:47414400-47417800	Enhancers	Lung	lung
19	chr11:47414600-47416400	Enhancers	HSMM	muscle
20	chr11:47414600-47416600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:47414600-47416600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:47414600-47417600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr11:47414600-47417800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:47414600-47421200	Weak transcription	Stomach Mucosa	stomach
25	chr11:47414800-47416200	Enhancers	Fetal Thymus	thymus
26	chr11:47414800-47417600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr11:47415000-47416200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:47415000-47416200	Enhancers	Primary T cells from cord blood	blood
29	chr11:47415000-47416400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr11:47415000-47416600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:47415000-47416800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:47415000-47416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:47415000-47416800	Enhancers	Osteobl	bone
34	chr11:47415000-47417600	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr11:47415000-47417600	Enhancers	HUVEC	blood vessel
36	chr11:47415200-47417200	Enhancers	Right Ventricle	heart
37	chr11:47415200-47421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:47415400-47416200	Enhancers	Thymus	Thymus
39	chr11:47415400-47416800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:47415400-47417400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr11:47415400-47419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:47415400-47419600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr11:47415400-47421200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:47415400-47421400	Weak transcription	Right Atrium	heart
45	chr11:47415600-47416200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:47415600-47416200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:47415600-47416200	Enhancers	Gastric	stomach
48	chr11:47415600-47416400	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr11:47415600-47416800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:47415600-47416800	Active TSS	Duodenum Smooth Muscle	Duodenum

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