Variant report

Variant	rs537042994
Chromosome Location	chr2:134025073-134025074
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3367779	chr2:134023582-134025680	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3323199	chr2:134024082-134025280	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134022800-134025200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr2:134023000-134025200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:134023000-134025200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:134023000-134025200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:134023000-134025200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:134023000-134025200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:134023200-134025200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:134023400-134025200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:134023600-134025200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:134023800-134025200	Active TSS	NHEK	skin
11	chr2:134023800-134026400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:134024200-134025200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:134024400-134025200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:134024400-134025600	Enhancers	Brain Substantia Nigra	brain
15	chr2:134024600-134025200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:134024600-134025200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:134024600-134025200	Enhancers	Pancreas	Pancrea
18	chr2:134024800-134025200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:134024800-134025200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:134024800-134025200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:134024800-134025200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr2:134024800-134025200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:134024800-134025200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:134024800-134025200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr2:134024800-134025200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:134024800-134025200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:134024800-134025200	Flanking Active TSS	Brain Anterior Caudate	brain
28	chr2:134024800-134025200	Flanking Active TSS	Fetal Brain Male	brain
29	chr2:134024800-134025200	Flanking Active TSS	Fetal Brain Female	brain
30	chr2:134024800-134025200	Enhancers	Lung	lung
31	chr2:134024800-134025200	Flanking Active TSS	NH-A	brain
32	chr2:134024800-134025200	Flanking Active TSS	Osteobl	bone
33	chr2:134025000-134025200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:134025000-134025200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:134025000-134025200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:134025000-134025200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:134025000-134025200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:134025000-134025200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:134025000-134025200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:134025000-134025200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:134025000-134025200	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr2:134025000-134025200	Enhancers	Liver	Liver
43	chr2:134025000-134025200	Flanking Active TSS	Brain Angular Gyrus	brain
44	chr2:134025000-134025200	Enhancers	Brain Cingulate Gyrus	brain
45	chr2:134025000-134025200	Enhancers	Brain Germinal Matrix	brain
46	chr2:134025000-134025200	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr2:134025000-134025200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:134025000-134025200	Bivalent Enhancer	Fetal Heart	heart
49	chr2:134025000-134025200	Bivalent Enhancer	Fetal Intestine Large	intestine
50	chr2:134025000-134025200	Flanking Bivalent TSS/Enh	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links