Variant report

Variant	rs12472635
Chromosome Location	chr2:48731705-48731706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr2:48731590-48732202	SK-N-SH	brain:	n/a	chr2:48731995-48732006
2	PBX3	chr2:48731703-48732182	SK-N-SH	brain:	n/a	n/a
3	PBX3	chr2:48731684-48732224	SK-N-SH	brain:	n/a	n/a
4	EP300	chr2:48731685-48732299	SK-N-SH	brain:	n/a	n/a
5	JUND	chr2:48731684-48732325	SK-N-SH	brain:	n/a	chr2:48731995-48732006
6	POLR2A	chr2:48731691-48732147	SK-N-SH	brain:	n/a	n/a
7	JUND	chr2:48731701-48732356	SK-N-SH	brain:	n/a	chr2:48731995-48732006

No.	Distal block	Cell Line	Cell type
1	chr2:48731329..48733853-chr2:48733869..48735951,2	K562	blood:
2	chr2:48730893..48733076-chr2:48744799..48747082,2	K562	blood:
3	chr2:48727413..48730454-chr2:48730607..48734866,3	K562	blood:

Variant related genes	Relation type
RNU6-282P	TF binding region
PPP1R21	TF binding region
ENSG00000202227	Chromatin interaction
ENSG00000162869	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12615167	0.81[AFR][1000 genomes]
rs4597580	0.83[AFR][1000 genomes]
rs4953589	0.81[EUR][1000 genomes];0.91[ASN][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	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats 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 target site	20 gene(s)	inside rSNPs	diseases
2	nsv1005954	chr2:48692696-48905723	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv535682	chr2:48692696-48905723	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv833981	chr2:48705444-48878179	ZNF genes & repeats Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48689200-48735600	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:48690000-48735600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:48694200-48753000	Weak transcription	Psoas Muscle	Psoas
4	chr2:48695600-48735200	Weak transcription	K562	blood
5	chr2:48698800-48735400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:48700200-48735400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr2:48700600-48735600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:48704000-48735800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:48704600-48735400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr2:48704600-48735600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:48707400-48742000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:48708400-48735400	Weak transcription	Stomach Mucosa	stomach
13	chr2:48709400-48755200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:48710200-48745000	Weak transcription	Fetal Brain Male	brain
15	chr2:48710400-48735400	Weak transcription	NHLF	lung
16	chr2:48712400-48734200	Weak transcription	NHEK	skin
17	chr2:48714400-48735400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:48717800-48733200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr2:48720800-48735800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:48721000-48735600	Strong transcription	Fetal Thymus	thymus
21	chr2:48721000-48736400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:48722600-48741800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:48723800-48748200	Strong transcription	GM12878-XiMat	blood
24	chr2:48724200-48735000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:48724200-48735600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:48724400-48735400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:48724400-48738400	Weak transcription	Fetal Heart	heart
28	chr2:48725600-48733400	Strong transcription	Fetal Intestine Large	intestine
29	chr2:48726200-48735600	Weak transcription	Gastric	stomach
30	chr2:48726200-48735600	Weak transcription	Pancreas	Pancrea
31	chr2:48726200-48742400	Weak transcription	Colonic Mucosa	Colon
32	chr2:48726400-48732400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:48726400-48734000	Weak transcription	Brain Angular Gyrus	brain
34	chr2:48726400-48734400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr2:48726400-48735600	Weak transcription	Small Intestine	intestine
36	chr2:48726400-48737800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:48726400-48756800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:48726600-48735200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr2:48726600-48735600	Weak transcription	Fetal Kidney	kidney
40	chr2:48726800-48735200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr2:48727400-48735400	Weak transcription	NH-A	brain
42	chr2:48727400-48735600	Weak transcription	Colon Smooth Muscle	Colon
43	chr2:48727600-48733000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr2:48728200-48734200	Weak transcription	Fetal Lung	lung
45	chr2:48728200-48756800	Weak transcription	HMEC	breast
46	chr2:48728400-48735200	Weak transcription	Hela-S3	cervix
47	chr2:48728600-48732800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:48728600-48732800	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:48728600-48735200	Weak transcription	HepG2	liver
50	chr2:48728600-48738400	Weak transcription	H9 Cell Line	embryonic stem cell

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