Variant report

Variant	rs6720207
Chromosome Location	chr2:235164195-235164196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13386122	1.00[EUR][1000 genomes]
rs1519189	1.00[EUR][1000 genomes]
rs58746434	1.00[EUR][1000 genomes]
rs59432605	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59794500	1.00[EUR][1000 genomes]
rs878732	1.00[EUR][1000 genomes]

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:44 , 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	chr2:235156800-235166600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:235159000-235164200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:235159800-235164400	Enhancers	Fetal Brain Male	brain
6	chr2:235160400-235166800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:235161200-235164800	Weak transcription	Placenta	Placenta
8	chr2:235161200-235165000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:235161200-235166600	Weak transcription	Fetal Intestine Small	intestine
10	chr2:235161400-235165200	Weak transcription	Esophagus	oesophagus
11	chr2:235161400-235166400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:235161400-235166400	Weak transcription	HUVEC	blood vessel
13	chr2:235161400-235166600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:235161600-235164800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:235161600-235164800	Weak transcription	Pancreas	Pancrea
16	chr2:235161600-235166200	Weak transcription	Osteobl	bone
17	chr2:235161600-235166400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:235161600-235166400	Weak transcription	Fetal Intestine Large	intestine
19	chr2:235161600-235166400	Weak transcription	HSMM	muscle
20	chr2:235161600-235166600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:235161600-235166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:235161800-235166200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:235162400-235166600	Enhancers	A549	lung
24	chr2:235162600-235166600	Enhancers	NHEK	skin
25	chr2:235162600-235166800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:235162800-235164400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:235162800-235171200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:235162800-235171800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:235163200-235166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr2:235163400-235164400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr2:235163600-235164200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:235163600-235164200	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:235163600-235164200	Enhancers	NHLF	lung
34	chr2:235163600-235164400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:235163600-235164400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:235163600-235164400	Enhancers	Brain Germinal Matrix	brain
37	chr2:235163600-235164400	Enhancers	Fetal Brain Female	brain
38	chr2:235163600-235165000	Enhancers	NH-A	brain
39	chr2:235163800-235167200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:235164000-235164400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:235164000-235164400	Weak transcription	NHDF-Ad	bronchial
42	chr2:235164000-235165400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:235164000-235166200	Weak transcription	Dnd41	blood
44	chr2:235164000-235166600	Weak transcription	Primary T helper cells PMA-I stimulated	--

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