Variant report

Variant	rs530847973
Chromosome Location	chr2:235159217-235159218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834572	chr2:235146304-235333842	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1000127	chr2:235158803-235210293	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235149400-235171600	Enhancers	HMEC	breast
2	chr2:235152600-235171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:235154200-235163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:235154800-235159800	Weak transcription	Pancreas	Pancrea
5	chr2:235155000-235160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:235155400-235162600	Weak transcription	Dnd41	blood
7	chr2:235156600-235160800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:235156800-235159800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:235156800-235160000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:235156800-235160200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:235156800-235166600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:235157200-235161600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:235157400-235160000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:235157400-235161800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:235157600-235160000	Enhancers	NH-A	brain
16	chr2:235157600-235161600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:235157800-235160000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:235157800-235160000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:235157800-235160000	Enhancers	HSMM	muscle
20	chr2:235157800-235160200	Enhancers	HSMMtube	muscle
21	chr2:235157800-235161400	Enhancers	HUVEC	blood vessel
22	chr2:235158000-235160800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:235158000-235161200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr2:235158000-235161600	Enhancers	Osteobl	bone
25	chr2:235158000-235161800	Enhancers	NHDF-Ad	bronchial
26	chr2:235158200-235159400	Enhancers	Hela-S3	cervix
27	chr2:235158200-235160200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:235158200-235160400	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:235158400-235159400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:235158400-235159800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:235158600-235159800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:235158600-235159800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:235158600-235160000	Weak transcription	Esophagus	oesophagus
34	chr2:235158600-235160000	Weak transcription	Fetal Lung	lung
35	chr2:235158600-235161400	Enhancers	NHEK	skin
36	chr2:235159000-235160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:235159000-235160000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr2:235159000-235160000	Weak transcription	Placenta	Placenta
39	chr2:235159000-235160000	Enhancers	A549	lung
40	chr2:235159000-235160200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:235159000-235160400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:235159000-235164200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:235159200-235159600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:235159200-235159600	Weak transcription	NHLF	lung
45	chr2:235159200-235160000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:235159200-235160000	Enhancers	Fetal Brain Female	brain
47	chr2:235159200-235160200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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