Variant report

Variant	rs561620580
Chromosome Location	chr2:11519955-11519956
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11511258..11513746-chr2:11518723..11520473,2	MCF-7	breast:
2	chr2:11484399..11488714-chr2:11519087..11522715,4	MCF-7	breast:
3	chr2:11514491..11518486-chr2:11518719..11524773,5	K562	blood:
4	chr2:11518112..11520070-chr2:11527868..11530807,2	MCF-7	breast:
5	chr2:11516205..11518065-chr2:11518508..11520842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction
ENSG00000231403	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv3366290	chr2:11519851-11521849	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11515400-11520000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:11515600-11520000	Weak transcription	Liver	Liver
4	chr2:11515800-11520000	Weak transcription	Fetal Heart	heart
5	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
6	chr2:11516200-11522400	Weak transcription	Hela-S3	cervix
7	chr2:11516200-11528400	Weak transcription	Pancreas	Pancrea
8	chr2:11517600-11520000	Enhancers	Fetal Stomach	stomach
9	chr2:11517600-11520000	Enhancers	Lung	lung
10	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:11517800-11520200	Enhancers	Fetal Muscle Leg	muscle
12	chr2:11518000-11520200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:11518000-11520200	Enhancers	Placenta	Placenta
14	chr2:11518200-11520000	Enhancers	Right Atrium	heart
15	chr2:11518200-11520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:11518200-11520200	Enhancers	NHDF-Ad	bronchial
17	chr2:11518400-11520200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:11518600-11520000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:11518600-11520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11518600-11520400	Enhancers	Fetal Lung	lung
21	chr2:11518600-11525800	Weak transcription	HSMM	muscle
22	chr2:11518800-11520000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:11518800-11520200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:11518800-11520200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:11518800-11520200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:11518800-11520200	Enhancers	HSMMtube	muscle
27	chr2:11518800-11520200	Enhancers	NHLF	lung
28	chr2:11518800-11520400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:11518800-11520400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:11519000-11520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:11519000-11520400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:11519000-11520400	Enhancers	Osteobl	bone
33	chr2:11519000-11537400	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:11519200-11520200	Enhancers	GM12878-XiMat	blood
35	chr2:11519200-11520400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:11519200-11520400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:11519200-11523800	Weak transcription	Fetal Intestine Large	intestine
38	chr2:11519200-11525200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr2:11519200-11530800	Weak transcription	Brain Anterior Caudate	brain
40	chr2:11519400-11520000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:11519400-11520200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:11519400-11520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:11519400-11520200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:11519400-11520200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:11519400-11520200	Flanking Active TSS	HepG2	liver
46	chr2:11519400-11520200	Enhancers	HMEC	breast
47	chr2:11519400-11521000	Weak transcription	A549	lung
48	chr2:11519600-11520000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:11519600-11520200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:11519600-11520200	Enhancers	NHEK	skin

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