Variant report

Variant	rs11181384
Chromosome Location	chr12:42630417-42630418
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr12:42630358-42633508	Hela-S3	cervix:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
2	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
3	chr12:42629382..42633215-chr12:42724719..42729481,4	MCF-7	breast:
4	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:
5	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
6	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
7	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
8	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
9	chr12:42613730..42615825-chr12:42628835..42630747,2	K562	blood:
10	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:

No data

Variant related genes	Relation type
PPHLN1	TF binding region
ENSG00000151233	Chromatin interaction
ENSG00000139168	Chromatin interaction
ENSG00000134283	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000241710	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10492386	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492387	0.84[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10785332	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785336	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10880257	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880263	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880274	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880276	0.94[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10880285	0.93[JPT][hapmap]
rs10880286	0.93[JPT][hapmap]
rs10880289	0.93[JPT][hapmap]
rs11181332	0.92[JPT][hapmap]
rs11181344	0.93[JPT][hapmap]
rs11181347	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11181348	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11181356	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181359	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181383	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181385	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11181387	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181388	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11181391	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11181396	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11181426	0.93[JPT][hapmap]
rs11181430	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs11181436	0.92[JPT][hapmap]
rs11181440	0.93[JPT][hapmap]
rs11181447	0.86[JPT][hapmap]
rs11181449	0.93[JPT][hapmap]
rs11181474	0.81[JPT][hapmap]
rs11829883	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11831168	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832197	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834173	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12227365	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12228932	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12230675	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12231307	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12579560	0.84[CEU][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12581958	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12582652	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12582890	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17091018	0.84[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988893	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2100546	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2198764	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2406874	0.93[JPT][hapmap]
rs3810786	0.93[JPT][hapmap]
rs3810788	0.93[JPT][hapmap]
rs3810789	0.93[JPT][hapmap]
rs3810790	0.93[JPT][hapmap]
rs3852594	0.93[JPT][hapmap]
rs4586237	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60971233	0.88[ASN][1000 genomes]
rs61924344	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61940203	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940227	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61940237	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7296847	0.94[CEU][hapmap];0.85[CHB][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7306744	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73114420	0.98[ASN][1000 genomes]
rs73116436	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7314223	0.86[ASN][1000 genomes]
rs7485381	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7953509	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7960726	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7963469	0.90[CEU][hapmap]
rs7965273	0.84[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7972986	0.93[JPT][hapmap]
rs7978820	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs880161	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9325211	0.89[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv826351	chr12:42584218-42676281	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv826352	chr12:42593124-42675255	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
3	chr12:42569800-42631000	Weak transcription	Gastric	stomach
4	chr12:42602400-42630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:42607800-42630600	Weak transcription	NHEK	skin
6	chr12:42608200-42630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:42609800-42631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:42613600-42631000	Weak transcription	Ovary	ovary
9	chr12:42613800-42630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:42620400-42630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:42620400-42631000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:42620600-42630800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:42620600-42630800	Weak transcription	Fetal Stomach	stomach
14	chr12:42627200-42630800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:42628000-42631000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:42628200-42630600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:42628200-42631000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:42628400-42630600	Enhancers	Liver	Liver
19	chr12:42628600-42630800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:42628600-42630800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:42628600-42630800	Enhancers	Brain Substantia Nigra	brain
22	chr12:42628600-42630800	Enhancers	Fetal Heart	heart
23	chr12:42628600-42631000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:42628600-42631000	Weak transcription	Esophagus	oesophagus
25	chr12:42628600-42631200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:42628800-42630600	Enhancers	Brain Hippocampus Middle	brain
27	chr12:42628800-42630800	Enhancers	HepG2	liver
28	chr12:42628800-42631000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:42629000-42630800	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:42629000-42631000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:42629000-42631000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:42629200-42630600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:42629200-42630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:42629200-42631000	Weak transcription	Stomach Mucosa	stomach
35	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:42629400-42630600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:42629400-42630800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr12:42629400-42631000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:42629400-42631000	Enhancers	Fetal Lung	lung
40	chr12:42629600-42630600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:42629600-42630600	Enhancers	Primary T cells from cord blood	blood
42	chr12:42629600-42630600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:42629600-42630800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:42629600-42630800	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:42629600-42630800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr12:42629600-42631000	Weak transcription	Placenta	Placenta
47	chr12:42629600-42631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:42629800-42630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:42629800-42630600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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