Variant report

Variant	rs577891247
Chromosome Location	chr2:63029071-63029072
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:63010800-63032800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:63017000-63032600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:63017000-63033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:63017000-63037400	Weak transcription	NHLF	lung
6	chr2:63017400-63032800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
8	chr2:63018200-63033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
11	chr2:63020800-63040200	Weak transcription	Left Ventricle	heart
12	chr2:63022400-63040400	Weak transcription	NHEK	skin
13	chr2:63022400-63041000	Weak transcription	HSMM	muscle
14	chr2:63022600-63029200	Weak transcription	Small Intestine	intestine
15	chr2:63022600-63031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:63022600-63032800	Weak transcription	Fetal Intestine Small	intestine
17	chr2:63022800-63032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:63022800-63032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:63022800-63032800	Weak transcription	Fetal Lung	lung
20	chr2:63022800-63033000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:63022800-63034400	Weak transcription	Primary B cells from cord blood	blood
22	chr2:63022800-63035800	Weak transcription	Fetal Kidney	kidney
23	chr2:63023400-63029200	Weak transcription	Adipose Nuclei	Adipose
24	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr2:63024000-63032800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr2:63025200-63029200	Weak transcription	Stomach Mucosa	stomach
27	chr2:63026200-63034200	Strong transcription	HepG2	liver
28	chr2:63027200-63029600	Enhancers	Liver	Liver
29	chr2:63027400-63029200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:63027400-63030000	Enhancers	GM12878-XiMat	blood
31	chr2:63027400-63032800	Weak transcription	Primary T cells from cord blood	blood
32	chr2:63027800-63029600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:63027800-63029600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr2:63027800-63030400	Flanking Active TSS	Dnd41	blood
35	chr2:63028000-63037600	Weak transcription	Colon Smooth Muscle	Colon
36	chr2:63028400-63029200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr2:63028400-63029400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr2:63028400-63029600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr2:63028400-63029600	Genic enhancers	NHDF-Ad	bronchial
40	chr2:63028600-63029400	Flanking Active TSS	A549	lung
41	chr2:63028600-63032600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:63028600-63033000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
44	chr2:63028800-63029400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr2:63028800-63029600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:63029000-63029400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:63029000-63029400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:63029000-63029400	Enhancers	Osteobl	bone
49	chr2:63029000-63029600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:63029000-63029600	Active TSS	Primary T cells fromperipheralblood	blood

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