Variant report

Variant	rs137948180
Chromosome Location	chr11:120080159-120080160
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:120054593..120056417-chr11:120079805..120082698,2	K562	blood:
2	chr11:120061784..120063825-chr11:120078138..120080529,2	K562	blood:
3	chr11:120066886..120069148-chr11:120079541..120081080,2	K562	blood:
4	chr11:120079370..120085014-chr11:120104504..120109067,9	K562	blood:
5	chr11:120078701..120081046-chr11:120081423..120083396,2	K562	blood:

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000137699	Chromatin interaction
ENSG00000184232	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv428581	chr11:120006048-120167603	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv518464	chr11:120040442-120109967	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3322007	chr11:120079642-120084040	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120075200-120081000	Enhancers	Pancreas	Pancrea
2	chr11:120076200-120080600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:120076200-120080600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:120076600-120080600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120077000-120080600	Enhancers	Fetal Stomach	stomach
6	chr11:120077000-120080800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:120078000-120081200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:120078200-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:120078200-120080800	Enhancers	Spleen	Spleen
10	chr11:120078400-120080400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:120078400-120080400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr11:120078400-120080600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:120078400-120080600	Enhancers	Adipose Nuclei	Adipose
14	chr11:120078400-120080600	Enhancers	Brain Anterior Caudate	brain
15	chr11:120078400-120080600	Enhancers	Brain Hippocampus Middle	brain
16	chr11:120078400-120080600	Enhancers	Colonic Mucosa	Colon
17	chr11:120078400-120080600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:120078400-120080600	Enhancers	NHDF-Ad	bronchial
19	chr11:120078400-120080800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:120078400-120080800	Enhancers	Brain Angular Gyrus	brain
21	chr11:120078400-120080800	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:120078400-120080800	Enhancers	Fetal Intestine Small	intestine
23	chr11:120078400-120080800	Enhancers	Fetal Muscle Trunk	muscle
24	chr11:120078400-120080800	Enhancers	Ovary	ovary
25	chr11:120078400-120081000	Enhancers	Esophagus	oesophagus
26	chr11:120078400-120081000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:120078400-120081000	Enhancers	Small Intestine	intestine
28	chr11:120078600-120080400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:120078600-120080400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:120078600-120080400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:120078600-120080400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:120078600-120080400	Enhancers	Fetal Muscle Leg	muscle
33	chr11:120078600-120080600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:120078600-120080600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:120078600-120080600	Enhancers	Duodenum Mucosa	Duodenum
36	chr11:120078600-120080600	Enhancers	Hela-S3	cervix
37	chr11:120078600-120080800	Enhancers	Right Atrium	heart
38	chr11:120078600-120081000	Enhancers	HMEC	breast
39	chr11:120078600-120081000	Enhancers	HUVEC	blood vessel
40	chr11:120078800-120080600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:120078800-120080600	Enhancers	NHLF	lung
42	chr11:120078800-120080800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:120078800-120080800	Enhancers	Placenta	Placenta
44	chr11:120078800-120080800	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:120078800-120080800	Enhancers	HSMM	muscle
46	chr11:120079000-120080400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr11:120079000-120080600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:120079000-120080600	Weak transcription	Lung	lung
49	chr11:120079000-120080800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:120079200-120080400	Weak transcription	Brain Germinal Matrix	brain

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