Variant report

Variant	rs8183637
Chromosome Location	chr20:23127722-23127723
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23068190..23071729-chr20:23127032..23130141,4	K562	blood:
2	chr20:23126510..23128987-chr20:23134466..23137305,2	MCF-7	breast:
3	chr20:23127644..23129779-chr20:23341695..23344048,2	K562	blood:
4	chr20:22391083..22392851-chr20:23127548..23129144,2	K562	blood:
5	chr20:23127608..23130209-chr20:23149080..23150975,2	K562	blood:
6	chr20:22391351..22394320-chr20:23127644..23129795,2	K562	blood:
7	chr20:23106418..23109174-chr20:23126935..23129451,2	K562	blood:
8	chr20:23127669..23129280-chr20:23170551..23172653,2	K562	blood:
9	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
10	chr20:23125309..23128497-chr20:23131083..23133976,3	MCF-7	breast:
11	chr20:23073935..23077646-chr20:23127330..23130238,3	K562	blood:
12	chr20:23092388..23096498-chr20:23127168..23130418,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1066935	chr20:23123507-23146449	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv912817	chr20:23127661-23240969	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23118400-23131000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23119800-23128600	Weak transcription	Gastric	stomach
3	chr20:23120200-23137600	Enhancers	HUVEC	blood vessel
4	chr20:23121000-23128000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr20:23121000-23144200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr20:23121200-23128800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr20:23121200-23128800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:23121200-23130800	Enhancers	HSMM	muscle
9	chr20:23121600-23130800	Enhancers	NH-A	brain
10	chr20:23121600-23138200	Enhancers	Adipose Nuclei	Adipose
11	chr20:23121800-23137600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr20:23121800-23143000	Enhancers	NHDF-Ad	bronchial
13	chr20:23122600-23138000	Enhancers	NHLF	lung
14	chr20:23122800-23128800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr20:23122800-23130800	Enhancers	Osteobl	bone
16	chr20:23123000-23130200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr20:23123400-23129000	Weak transcription	Right Ventricle	heart
18	chr20:23123600-23128200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr20:23123600-23128200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr20:23123600-23128600	Weak transcription	Right Atrium	heart
21	chr20:23123600-23132400	Weak transcription	Ovary	ovary
22	chr20:23123800-23128800	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr20:23124000-23128000	Weak transcription	A549	lung
24	chr20:23124200-23128200	Enhancers	K562	blood
25	chr20:23124200-23134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr20:23124400-23127800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr20:23124400-23132800	Weak transcription	Primary T cells from cord blood	blood
28	chr20:23124400-23133000	Weak transcription	Primary B cells from cord blood	blood
29	chr20:23124600-23127800	Weak transcription	Hela-S3	cervix
30	chr20:23124600-23128000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr20:23124600-23128400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr20:23124600-23132400	Weak transcription	Fetal Heart	heart
33	chr20:23124600-23132600	Weak transcription	Colon Smooth Muscle	Colon
34	chr20:23124800-23127800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr20:23124800-23128200	Weak transcription	Fetal Thymus	thymus
36	chr20:23125000-23137600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:23125200-23128200	Weak transcription	NHEK	skin
38	chr20:23125200-23129400	Enhancers	Fetal Muscle Leg	muscle
39	chr20:23125400-23134400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr20:23125600-23128200	Enhancers	GM12878-XiMat	blood
41	chr20:23126200-23127800	Weak transcription	Dnd41	blood
42	chr20:23126200-23128800	Weak transcription	Brain Anterior Caudate	brain
43	chr20:23126400-23127800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr20:23126400-23127800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:23126400-23128200	Weak transcription	Aorta	Aorta
46	chr20:23126400-23128200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr20:23126400-23128200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr20:23126400-23128600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr20:23126400-23131000	Weak transcription	Fetal Stomach	stomach
50	chr20:23126400-23132600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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