Variant report

Variant	rs11503868
Chromosome Location	chr12:48031271-48031272
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	chr12:48014490..48017395-chr12:48029451..48031685,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10082722	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10083203	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1046438	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10875668	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10875672	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10875675	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10875678	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11168172	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11168174	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11168189	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11534912	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11559971	0.94[ASN][1000 genomes]
rs12301106	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12318569	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1233051	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2022528	0.92[EUR][1000 genomes]
rs2057730	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2239187	0.80[ASN][1000 genomes]
rs3809318	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768161	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768840	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4768841	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56009115	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61917589	0.81[AMR][1000 genomes]
rs7294629	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7298493	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73102109	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73104122	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73113128	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7312135	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7314657	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74088008	0.82[ASN][1000 genomes]
rs7960755	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668083	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv899058	chr12:48012390-48082482	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
2	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
3	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:48007600-48032000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:48007600-48037600	Weak transcription	Left Ventricle	heart
6	chr12:48008600-48033400	Weak transcription	Pancreas	Pancrea
7	chr12:48009000-48032200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:48009800-48036200	Weak transcription	Ovary	ovary
9	chr12:48015600-48055200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:48016000-48044400	Weak transcription	NH-A	brain
11	chr12:48018000-48036800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:48023600-48044800	Weak transcription	Gastric	stomach
13	chr12:48025200-48036000	Weak transcription	Fetal Lung	lung
14	chr12:48025600-48032000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:48025600-48032200	Weak transcription	Primary T cells from cord blood	blood
16	chr12:48025800-48032400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:48028000-48031600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:48028800-48031400	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr12:48029000-48031400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
20	chr12:48029000-48031600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:48029400-48055400	Weak transcription	Thymus	Thymus
22	chr12:48029800-48031600	ZNF genes & repeats	Fetal Muscle Leg	muscle
23	chr12:48029800-48098800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:48030000-48031400	Strong transcription	Primary B cells from cord blood	blood
25	chr12:48030400-48031600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr12:48030600-48031400	Enhancers	H1 Cell Line	embryonic stem cell
27	chr12:48030600-48031400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:48030600-48031400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:48030600-48031400	ZNF genes & repeats	Fetal Stomach	stomach
30	chr12:48030800-48031400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr12:48030800-48031400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:48030800-48031400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:48030800-48031400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:48030800-48031400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:48030800-48031400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr12:48030800-48031400	Enhancers	Hela-S3	cervix
37	chr12:48030800-48031400	Enhancers	K562	blood
38	chr12:48030800-48032200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
39	chr12:48030800-48032800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr12:48030800-48035200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:48030800-48042000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48031000-48031600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr12:48031000-48044600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:48031000-48083200	Weak transcription	Esophagus	oesophagus
45	chr12:48031200-48031400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:48031200-48031600	Genic enhancers	A549	lung
47	chr12:48031200-48051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:48031200-48053200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links