Variant report

Variant	rs6488313
Chromosome Location	chr12:10767191-10767192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:10765898-10767236	HUVEC	blood vessel:	n/a	n/a
2	MAZ	chr12:10765688-10767348	IMR90	lung:	n/a	chr12:10766012-10766019
3	POLR2A	chr12:10764431-10767480	GM12891	blood:	n/a	n/a
4	POLR2A	chr12:10765258-10767202	HUVEC	blood vessel:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10766141..10768697-chr12:10873862..10876046,3	MCF-7	breast:
2	chr12:10749754..10752517-chr12:10766526..10768155,2	MCF-7	breast:
3	chr12:10763668..10768180-chr12:10873034..10877438,4	K562	blood:
4	chr12:10764890..10767963-chr12:10824892..10828037,6	MCF-7	breast:
5	chr12:10757768..10761323-chr12:10763648..10767654,5	MCF-7	breast:
6	chr12:10759828..10762348-chr12:10763400..10769792,9	K562	blood:
7	chr12:10763668..10768484-chr12:10873757..10876876,5	K562	blood:
8	chr12:10766930..10769742-chr12:10774668..10777182,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAGOHB	TF binding region
ENSG00000111196	Chromatin interaction
ENSG00000060140	Chromatin interaction
ENSG00000060138	Chromatin interaction
ENSG00000256667	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1026443	0.81[AMR][1000 genomes]
rs1026445	0.81[AMR][1000 genomes]
rs1026446	0.81[AMR][1000 genomes]
rs1052871	0.92[EUR][1000 genomes]
rs10772332	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10772333	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10772335	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10845182	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2011295	0.81[AMR][1000 genomes]
rs2125089	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs2125090	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2198965	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219383	0.93[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2243823	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2682484	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs3463	0.94[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3947920	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4237930	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs4763208	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4763209	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4763210	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4763211	0.93[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4763562	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs6488312	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308433	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7311796	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs7316237	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7965803	1.00[CEU][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976279	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs897881	1.00[ASN][1000 genomes]
rs953248	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10764600-10767200	Active TSS	K562	blood
2	chr12:10764800-10767200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:10764800-10767200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr12:10764800-10767200	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr12:10764800-10767200	Active TSS	Right Atrium	heart
6	chr12:10765000-10767200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr12:10765000-10767200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:10765000-10767200	Active TSS	Fetal Intestine Small	intestine
9	chr12:10765200-10767200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:10765200-10767400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:10765600-10767200	Active TSS	Brain Angular Gyrus	brain
12	chr12:10765600-10767200	Active TSS	Brain Anterior Caudate	brain
13	chr12:10765600-10767200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr12:10765600-10767200	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:10765600-10767200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:10765600-10767200	Active TSS	NH-A	brain
17	chr12:10765600-10767600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr12:10765800-10767200	Active TSS	Duodenum Mucosa	Duodenum
19	chr12:10765800-10767200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr12:10765800-10767200	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr12:10766600-10767200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr12:10766600-10767200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr12:10766600-10767200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:10766600-10767200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:10766600-10767200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:10766600-10767200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:10766600-10767200	Flanking Active TSS	Dnd41	blood
28	chr12:10766600-10787000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr12:10766600-10789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:10766600-10794400	Weak transcription	Gastric	stomach
31	chr12:10766800-10767200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:10766800-10767200	Flanking Active TSS	Fetal Kidney	kidney
33	chr12:10766800-10767200	Enhancers	Placenta	Placenta
34	chr12:10766800-10767200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr12:10766800-10767200	Flanking Active TSS	GM12878-XiMat	blood
36	chr12:10766800-10767200	Flanking Active TSS	HSMM	muscle
37	chr12:10766800-10767200	Flanking Active TSS	HSMMtube	muscle
38	chr12:10766800-10767400	Flanking Active TSS	NHEK	skin
39	chr12:10766800-10769600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr12:10766800-10770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:10766800-10771400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:10766800-10789400	Weak transcription	Esophagus	oesophagus
43	chr12:10767000-10767200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:10767000-10767200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr12:10767000-10767200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:10767000-10767200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:10767000-10767200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:10767000-10767200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:10767000-10767200	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:10767000-10767200	Enhancers	Primary T cells from cord blood	blood

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