Variant report

Variant	rs558624918
Chromosome Location	chr2:11520183-11520184
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	chr2:11520154..11521911-chr2:11530185..11533022,2	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11515400-11526000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:11516000-11526000	Weak transcription	Aorta	Aorta
3	chr2:11516200-11522400	Weak transcription	Hela-S3	cervix
4	chr2:11516200-11528400	Weak transcription	Pancreas	Pancrea
5	chr2:11517600-11536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:11517800-11520200	Enhancers	Fetal Muscle Leg	muscle
7	chr2:11518000-11520200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:11518000-11520200	Enhancers	Placenta	Placenta
9	chr2:11518200-11520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:11518200-11520200	Enhancers	NHDF-Ad	bronchial
11	chr2:11518400-11520200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:11518600-11520200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:11518600-11520400	Enhancers	Fetal Lung	lung
14	chr2:11518600-11525800	Weak transcription	HSMM	muscle
15	chr2:11518800-11520200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr2:11518800-11520200	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr2:11518800-11520200	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:11518800-11520200	Enhancers	HSMMtube	muscle
19	chr2:11518800-11520200	Enhancers	NHLF	lung
20	chr2:11518800-11520400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:11518800-11520400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:11519000-11520200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:11519000-11520400	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr2:11519000-11520400	Enhancers	Osteobl	bone
25	chr2:11519000-11537400	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:11519200-11520200	Enhancers	GM12878-XiMat	blood
27	chr2:11519200-11520400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:11519200-11520400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:11519200-11523800	Weak transcription	Fetal Intestine Large	intestine
30	chr2:11519200-11525200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:11519200-11530800	Weak transcription	Brain Anterior Caudate	brain
32	chr2:11519400-11520200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:11519400-11520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:11519400-11520200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:11519400-11520200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:11519400-11520200	Flanking Active TSS	HepG2	liver
37	chr2:11519400-11520200	Enhancers	HMEC	breast
38	chr2:11519400-11521000	Weak transcription	A549	lung
39	chr2:11519600-11520200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr2:11519600-11520200	Enhancers	NHEK	skin
41	chr2:11519600-11520400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:11519600-11521800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:11519600-11524000	Weak transcription	Fetal Intestine Small	intestine
44	chr2:11519600-11525800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:11519800-11520200	Enhancers	Small Intestine	intestine
46	chr2:11519800-11520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:11519800-11521200	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr2:11520000-11520200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:11520000-11520200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr2:11520000-11520200	Enhancers	Brain Cingulate Gyrus	brain

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