Variant report

Variant	rs75658123
Chromosome Location	chr2:114082251-114082252
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114081925..114084093-chr2:114086383..114088538,3	MCF-7	breast:
2	chr14:96000768..96001608-chr2:114082065..114082796,2	HCT-116	colon:
3	chr2:114081798..114083531-chr2:114086995..114089661,2	K562	blood:

Variant related genes	Relation type
ENSG00000247092	Chromatin interaction
ENSG00000182512	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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv2757826	chr2:114074949-114253780	Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv10129	chr2:114080875-114082808	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114081200-114082600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:114081600-114082400	Enhancers	Fetal Heart	heart
3	chr2:114081600-114082600	Enhancers	Lung	lung
4	chr2:114081600-114083400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:114081800-114082400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr2:114081800-114082400	Flanking Active TSS	Fetal Brain Female	brain
7	chr2:114081800-114082400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr2:114081800-114082400	Flanking Active TSS	NH-A	brain
9	chr2:114081800-114082400	Flanking Active TSS	NHEK	skin
10	chr2:114081800-114082600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr2:114081800-114082600	Active TSS	Fetal Kidney	kidney
12	chr2:114081800-114082800	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr2:114082000-114082400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:114082000-114082400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:114082000-114082400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:114082000-114082400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:114082000-114082400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:114082000-114082400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:114082000-114082400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr2:114082000-114082400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr2:114082000-114082400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr2:114082000-114082400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:114082000-114082400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:114082000-114082400	Flanking Active TSS	Liver	Liver
25	chr2:114082000-114082400	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr2:114082000-114082400	Flanking Active TSS	Brain Germinal Matrix	brain
27	chr2:114082000-114082400	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr2:114082000-114082400	Flanking Active TSS	Fetal Brain Male	brain
29	chr2:114082000-114082400	Flanking Active TSS	Fetal Lung	lung
30	chr2:114082000-114082400	Flanking Active TSS	Fetal Stomach	stomach
31	chr2:114082000-114082400	Enhancers	Gastric	stomach
32	chr2:114082000-114082400	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr2:114082000-114082400	Flanking Active TSS	A549	lung
34	chr2:114082000-114082400	Flanking Active TSS	Hela-S3	cervix
35	chr2:114082000-114082400	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr2:114082000-114082400	Flanking Active TSS	HSMMtube	muscle
37	chr2:114082000-114082400	Enhancers	K562	blood
38	chr2:114082000-114082400	Flanking Active TSS	NHLF	lung
39	chr2:114082000-114082600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr2:114082000-114082600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:114082000-114082600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr2:114082000-114082600	Enhancers	Stomach Mucosa	stomach
43	chr2:114082000-114082800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:114082000-114082800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr2:114082000-114083000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:114082000-114083000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:114082000-114083000	Active TSS	Colon Smooth Muscle	Colon
48	chr2:114082000-114083000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:114082000-114083000	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr2:114082000-114083000	Active TSS	Ovary	ovary

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