Variant report

Variant	rs62136269
Chromosome Location	chr2:32597787-32597788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32596888..32599492-chr2:32600757..32603688,2	K562	blood:
2	chr2:32588487..32591521-chr2:32595095..32597931,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12470811	1.00[ASN][1000 genomes]
rs12470951	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12475684	1.00[ASN][1000 genomes]
rs17011943	1.00[ASN][1000 genomes]
rs17011947	1.00[ASN][1000 genomes]
rs17011963	1.00[ASN][1000 genomes]
rs2366937	1.00[ASN][1000 genomes]
rs36060675	1.00[ASN][1000 genomes]
rs41291167	1.00[ASN][1000 genomes]
rs55788900	1.00[ASN][1000 genomes]
rs56347254	1.00[ASN][1000 genomes]
rs57813560	1.00[ASN][1000 genomes]
rs62134059	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62136263	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62136264	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62136276	1.00[ASN][1000 genomes]
rs62136278	1.00[ASN][1000 genomes]
rs62136279	1.00[ASN][1000 genomes]
rs62136280	1.00[ASN][1000 genomes]
rs62136281	1.00[ASN][1000 genomes]
rs62136282	1.00[ASN][1000 genomes]
rs62136284	1.00[ASN][1000 genomes]
rs62136285	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62136286	1.00[ASN][1000 genomes]
rs62136287	1.00[ASN][1000 genomes]
rs62136302	1.00[ASN][1000 genomes]
rs62136306	1.00[ASN][1000 genomes]
rs62136326	1.00[ASN][1000 genomes]
rs6543655	1.00[ASN][1000 genomes]
rs6747906	1.00[ASN][1000 genomes]
rs72798777	1.00[ASN][1000 genomes]
rs72798784	1.00[ASN][1000 genomes]
rs72798788	1.00[ASN][1000 genomes]
rs72798796	1.00[ASN][1000 genomes]
rs72800830	1.00[ASN][1000 genomes]
rs7609320	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32583600-32607200	Weak transcription	Placenta	Placenta
2	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:32583600-32653200	Weak transcription	Gastric	stomach
4	chr2:32583800-32605600	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:32584200-32605600	Weak transcription	Thymus	Thymus
7	chr2:32584600-32607000	Weak transcription	HMEC	breast
8	chr2:32584600-32609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:32584800-32606400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:32585000-32607200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:32585200-32600600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:32585200-32607200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr2:32585400-32598400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr2:32585400-32601800	Weak transcription	Fetal Intestine Large	intestine
15	chr2:32585400-32602600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:32585400-32607000	Weak transcription	Hela-S3	cervix
17	chr2:32585400-32607400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:32585400-32609000	Weak transcription	NHEK	skin
19	chr2:32585800-32601800	Weak transcription	NHDF-Ad	bronchial
20	chr2:32585800-32602600	Weak transcription	Fetal Lung	lung
21	chr2:32585800-32605800	Weak transcription	HSMM	muscle
22	chr2:32585800-32607200	Weak transcription	NH-A	brain
23	chr2:32585800-32609000	Weak transcription	Fetal Brain Female	brain
24	chr2:32586000-32598400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:32586000-32602600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:32586200-32605400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:32587000-32598200	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr2:32587000-32598400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:32587000-32605200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:32587200-32598400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:32587200-32604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:32587200-32604800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:32587200-32605000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr2:32587200-32605200	Weak transcription	Dnd41	blood
35	chr2:32587400-32598400	Weak transcription	K562	blood
36	chr2:32587400-32604600	Weak transcription	Fetal Thymus	thymus
37	chr2:32587400-32608600	Weak transcription	Brain Germinal Matrix	brain
38	chr2:32587600-32597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:32588400-32598600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr2:32589800-32600600	Weak transcription	GM12878-XiMat	blood
41	chr2:32590000-32597800	Weak transcription	Primary T cells from cord blood	blood
42	chr2:32590000-32601400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:32590000-32601400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:32590000-32607200	Weak transcription	Primary B cells from cord blood	blood
45	chr2:32590200-32607200	Weak transcription	HUVEC	blood vessel
46	chr2:32590400-32600600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:32590400-32602000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:32590400-32603000	Weak transcription	Small Intestine	intestine
49	chr2:32592000-32600400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:32592800-32603000	Weak transcription	Aorta	Aorta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links