Variant report

Variant	rs117511352
Chromosome Location	chr2:180056437-180056438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv834471	chr2:179974303-180123027	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	esv1807721	chr2:180024167-180076733	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1826248	chr2:180056341-180072860	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1842731	chr2:180056341-180076733	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv511167	chr2:180056341-180076733	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179980000-180056800	Weak transcription	HSMM	muscle
2	chr2:179998000-180060600	Weak transcription	Right Ventricle	heart
3	chr2:180015000-180060600	Weak transcription	Lung	lung
4	chr2:180015400-180058000	Weak transcription	Fetal Stomach	stomach
5	chr2:180015400-180060600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:180032200-180067600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:180037600-180058800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:180041000-180057000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:180041200-180058800	Weak transcription	Left Ventricle	heart
10	chr2:180041200-180058800	Weak transcription	Ovary	ovary
11	chr2:180043600-180058800	Weak transcription	Gastric	stomach
12	chr2:180046000-180057600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:180046400-180061000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:180051400-180057400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr2:180051800-180057800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:180053200-180056800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:180055000-180057200	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:180055200-180056800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:180055200-180057200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:180055200-180058800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:180055200-180066800	Weak transcription	Fetal Kidney	kidney
22	chr2:180055800-180057000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr2:180055800-180057200	Enhancers	HepG2	liver
24	chr2:180056000-180058400	Weak transcription	Adipose Nuclei	Adipose
25	chr2:180056200-180057000	Weak transcription	Brain Anterior Caudate	brain
26	chr2:180056200-180058400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr2:180056200-180058600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:180056200-180058800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr2:180056200-180060400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:180056200-180066800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:180056400-180056600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:180056400-180056800	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:180056400-180058200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:180056400-180058400	Weak transcription	Primary B cells from cord blood	blood
35	chr2:180056400-180059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:180056400-180059800	Weak transcription	Monocytes-CD14+_RO01746	blood

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