Variant report

Variant	rs12528481
Chromosome Location	chr6:144334771-144334772
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144262965..144264005-chr6:144332999..144335668,24	MCF-7	breast:
2	chr6:144262987..144264027-chr6:144334233..144335108,3	K562	blood:
3	chr1:201278978..201279852-chr6:144334250..144335005,2	MCF-7	breast:
4	chr6:144261214..144261795-chr6:144334290..144335183,2	MCF-7	breast:
5	chr6:144328273..144330730-chr6:144332408..144334974,3	MCF-7	breast:
6	chr6:143913267..143914036-chr6:144334250..144334794,2	K562	blood:
7	chr6:143896253..143896901-chr6:144334460..144335006,2	MCF-7	breast:
8	chr6:143896199..143897161-chr6:144334481..144335481,6	K562	blood:
9	chr6:144262914..144263721-chr6:144334214..144334821,4	MCF-7	breast:
10	chr6:144260927..144262000-chr6:144334479..144335516,6	MCF-7	breast:
11	chr6:144260683..144261884-chr6:144334204..144335620,11	K562	blood:

No data

No data

No data

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11155339	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11754802	0.90[CHB][hapmap]
rs11757814	0.80[JPT][hapmap]
rs11759634	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12524155	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17073303	0.81[JPT][hapmap]
rs2281476	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28364590	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55769736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56360488	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59090158	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6930286	0.81[JPT][hapmap]
rs6937128	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937531	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73006291	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773278	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9766199	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3408554	chr6:144106707-144369589	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3522138	chr6:144174685-144367463	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3522139	chr6:144174685-144367463	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv830830	chr6:144177942-144380870	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv5516	chr6:144300321-144345812	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144330000-144334800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:144330000-144338200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr6:144330000-144340600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr6:144330200-144338000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:144333000-144335000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:144333600-144335000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:144333800-144335000	Enhancers	Adipose Nuclei	Adipose
8	chr6:144334000-144334800	Enhancers	NHDF-Ad	bronchial
9	chr6:144334400-144334800	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr6:144334600-144334800	Enhancers	Colon Smooth Muscle	Colon
11	chr6:144334600-144335000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr6:144334600-144335000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:144334600-144335000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr6:144334600-144335000	Enhancers	Liver	Liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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