Variant report

Variant	rs10748290
Chromosome Location	chr12:76213252-76213253
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	chr12:76207915..76215391-chr12:76415099..76426528,21	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10748289	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10879987	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11180696	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180697	0.97[ASN][1000 genomes]
rs11611462	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275555	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1290030	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1298362	0.93[CEU][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1532293	0.82[CEU][hapmap]
rs2367301	0.96[CEU][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56251385	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv832463	chr12:76136551-76316703	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv899315	chr12:76163309-76385096	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1041730	chr12:76198863-76331900	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv521900	chr12:76212383-76215754	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76206600-76214400	Enhancers	NHDF-Ad	bronchial
2	chr12:76206600-76214600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:76206800-76213600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr12:76206800-76214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:76207200-76214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr12:76208800-76221200	Enhancers	NHLF	lung
7	chr12:76209000-76213400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:76209000-76214000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:76209200-76213600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:76209400-76214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:76209400-76214400	Weak transcription	Fetal Lung	lung
12	chr12:76209600-76214000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:76209800-76214200	Weak transcription	Adipose Nuclei	Adipose
14	chr12:76209800-76214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:76209800-76214400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:76209800-76214400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:76209800-76214600	Weak transcription	Ovary	ovary
18	chr12:76209800-76216400	Weak transcription	Fetal Heart	heart
19	chr12:76210000-76214200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:76210000-76214200	Weak transcription	HSMM	muscle
21	chr12:76210000-76214800	Weak transcription	Colon Smooth Muscle	Colon
22	chr12:76210000-76215200	Weak transcription	Fetal Stomach	stomach
23	chr12:76211200-76214200	Weak transcription	NH-A	brain
24	chr12:76211800-76213400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:76211800-76217200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:76212200-76213400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:76212200-76213600	Genic enhancers	NHEK	skin
28	chr12:76212400-76213400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:76212400-76213400	Enhancers	HSMMtube	muscle
30	chr12:76212400-76214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:76212400-76214400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:76212400-76214400	Enhancers	Osteobl	bone
33	chr12:76212400-76216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:76212400-76216400	Enhancers	HMEC	breast
35	chr12:76212600-76213400	Enhancers	A549	lung
36	chr12:76212600-76213600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:76212600-76213800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:76212600-76215200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:76212800-76213600	Enhancers	K562	blood
40	chr12:76212800-76216600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:76213000-76213600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr12:76213000-76214200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr12:76213000-76214200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:76213000-76214200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:76213200-76213400	Enhancers	Esophagus	oesophagus
46	chr12:76213200-76213600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr12:76213200-76213600	Enhancers	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links