Variant report

Variant	rs12470495
Chromosome Location	chr2:32529416-32529417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32515485..32518593-chr2:32527074..32529766,3	K562	blood:
2	chr2:32524160..32527901-chr2:32528455..32530966,3	K562	blood:

Variant related genes	Relation type
ENSG00000119820	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11678584	0.90[ASN][1000 genomes]
rs17011935	0.90[ASN][1000 genomes]
rs56156683	0.94[ASN][1000 genomes]
rs56232255	0.94[ASN][1000 genomes]
rs58387006	0.88[ASN][1000 genomes]
rs58961991	0.90[ASN][1000 genomes]
rs60266202	0.87[ASN][1000 genomes]
rs6710522	0.90[ASN][1000 genomes]
rs72798738	0.94[ASN][1000 genomes]
rs72798752	0.94[ASN][1000 genomes]
rs72798756	0.90[ASN][1000 genomes]
rs72798757	0.90[ASN][1000 genomes]
rs7579330	0.94[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	nsv1002120	chr2:32470452-32539443	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1004279	chr2:32470452-32543369	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	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
10	nsv819851	chr2:32526553-32529991	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32504000-32531200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:32504000-32537600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:32504000-32540200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32504000-32549400	Weak transcription	HSMMtube	muscle
5	chr2:32504800-32537600	Weak transcription	Fetal Brain Male	brain
6	chr2:32507800-32550000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:32508400-32534200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:32514000-32531200	Weak transcription	Psoas Muscle	Psoas
9	chr2:32514000-32553000	Weak transcription	Small Intestine	intestine
10	chr2:32514200-32555800	Weak transcription	Colonic Mucosa	Colon
11	chr2:32514800-32541000	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:32515000-32533400	Weak transcription	NHLF	lung
13	chr2:32515400-32538800	Weak transcription	NHEK	skin
14	chr2:32515800-32533200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:32516400-32531000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:32516400-32531800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:32517200-32536200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:32517400-32553200	Weak transcription	Stomach Mucosa	stomach
19	chr2:32519200-32533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:32520000-32529800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:32520200-32533000	Strong transcription	Fetal Thymus	thymus
22	chr2:32520200-32533400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:32520200-32537200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr2:32520400-32529800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:32520600-32535600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:32520600-32537400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr2:32520600-32541800	Weak transcription	Brain Substantia Nigra	brain
28	chr2:32520800-32532800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:32520800-32533400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:32521000-32532800	Strong transcription	Placenta	Placenta
31	chr2:32521000-32535200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:32521000-32554600	Weak transcription	Ovary	ovary
33	chr2:32521200-32533600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:32521600-32532800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:32521800-32552400	Weak transcription	Fetal Kidney	kidney
36	chr2:32522200-32533400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:32522800-32533000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr2:32523200-32533600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:32523400-32547200	Weak transcription	NH-A	brain
40	chr2:32524200-32529800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:32524200-32532600	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr2:32524200-32532800	Strong transcription	Fetal Intestine Large	intestine
43	chr2:32524400-32529800	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:32524400-32533000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:32524600-32532800	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:32525000-32537400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:32525200-32532600	Strong transcription	HepG2	liver
48	chr2:32525400-32548600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:32526200-32533800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:32526600-32531800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links