Variant report

Variant	rs11112375
Chromosome Location	chr12:105510496-105510497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105508971..105510510-chr12:105512045..105514800,2	K562	blood:
2	chr12:105508775..105512282-chr12:105513307..105515805,3	MCF-7	breast:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1014502	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1057110	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1077896	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10861359	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10861361	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1109433	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112369	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112370	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11112372	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11112376	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112379	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112388	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11112409	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11112412	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11112415	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11112416	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11112421	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11112423	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11112432	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11831854	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11832489	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11834277	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12228093	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12228948	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12230762	0.81[ASN][1000 genomes]
rs12812433	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12815031	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12819309	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12830078	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1317955	0.86[EUR][1000 genomes]
rs1373552	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1444611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470381	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2272495	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2293643	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293644	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2464176	0.92[ASN][1000 genomes]
rs28549976	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34075890	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34983773	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35462155	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35672903	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3736628	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794222	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3794223	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3794224	0.80[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3794227	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3817607	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3829296	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4964125	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4964334	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4964335	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964336	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4964338	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4964339	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964340	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4964342	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55908437	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56693261	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73179994	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7485364	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs755604	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs881279	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9919746	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv832506	chr12:105461274-105637561	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv1826054	chr12:105505809-105568176	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3417868	chr12:105510177-105510628	Weak transcription Strong transcription	Chromatin interactive region	n/a	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	chr12:105502400-105524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:105502800-105516400	Weak transcription	Spleen	Spleen
3	chr12:105503000-105521800	Weak transcription	Stomach Mucosa	stomach
4	chr12:105503800-105511600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr12:105503800-105511800	Weak transcription	Left Ventricle	heart
6	chr12:105503800-105512400	Weak transcription	Lung	lung
7	chr12:105503800-105512800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:105503800-105512800	Weak transcription	Fetal Stomach	stomach
9	chr12:105503800-105512800	Weak transcription	Pancreas	Pancrea
10	chr12:105503800-105516600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:105503800-105516600	Weak transcription	Gastric	stomach
12	chr12:105503800-105516800	Weak transcription	Esophagus	oesophagus
13	chr12:105503800-105517000	Weak transcription	Right Ventricle	heart
14	chr12:105503800-105525200	Weak transcription	Fetal Heart	heart
15	chr12:105503800-105544200	Weak transcription	Aorta	Aorta
16	chr12:105504000-105510600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:105504000-105511600	Weak transcription	Ovary	ovary
18	chr12:105504000-105511800	Weak transcription	Brain Germinal Matrix	brain
19	chr12:105504000-105512400	Weak transcription	Thymus	Thymus
20	chr12:105504000-105516600	Weak transcription	Psoas Muscle	Psoas
21	chr12:105504000-105517000	Weak transcription	Small Intestine	intestine
22	chr12:105505200-105517800	Strong transcription	HSMM	muscle
23	chr12:105505200-105530000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:105505200-105531000	Strong transcription	HMEC	breast
25	chr12:105505200-105542600	Strong transcription	Fetal Thymus	thymus
26	chr12:105505200-105559800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:105505200-105564000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:105505200-105567400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:105505200-105573000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:105505400-105514000	Strong transcription	A549	lung
31	chr12:105505400-105519000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:105505600-105519200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:105505600-105530800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:105505600-105535200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr12:105505600-105537200	Strong transcription	Osteobl	bone
36	chr12:105505600-105550000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr12:105505600-105573200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr12:105505800-105514800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr12:105505800-105516800	Strong transcription	NH-A	brain
40	chr12:105505800-105571400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:105506000-105514400	Strong transcription	Hela-S3	cervix
42	chr12:105506000-105529000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr12:105506000-105536800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr12:105506000-105537200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:105506200-105514600	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr12:105506400-105544600	Strong transcription	NHDF-Ad	bronchial
47	chr12:105506400-105573000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:105506600-105513600	Weak transcription	Fetal Intestine Small	intestine
49	chr12:105506600-105549200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:105506800-105568800	Strong transcription	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links