Variant report

Variant	rs12675931
Chromosome Location	chr8:91901465-91901466
allele	C/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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:91654238..91656466-chr8:91898414..91902321,3	MCF-7	breast:
2	chr8:91888858..91893831-chr8:91896562..91901698,7	MCF-7	breast:
3	chr8:91651680..91653672-chr8:91900976..91903680,2	MCF-7	breast:
4	chr8:91899307..91903059-chr8:91911003..91916137,6	MCF-7	breast:
5	chr17:59358978..59361654-chr8:91898623..91901555,2	MCF-7	breast:
6	chr8:91780302..91782332-chr8:91899884..91901974,2	MCF-7	breast:
7	chr8:91899173..91903204-chr8:91924216..91926667,4	MCF-7	breast:
8	chr8:91899809..91901521-chr8:91959173..91961747,2	MCF-7	breast:
9	chr8:91885884..91888483-chr8:91901154..91903670,2	K562	blood:
10	chr8:91899402..91901814-chr8:91904885..91907706,2	MCF-7	breast:
11	chr8:91592321..91595028-chr8:91900855..91903114,2	MCF-7	breast:
12	chr8:91655531..91658345-chr8:91899279..91901981,2	MCF-7	breast:
13	chr8:91900111..91903309-chr8:91904306..91908501,6	MCF-7	breast:
14	chr8:91774716..91776551-chr8:91899824..91902199,2	MCF-7	breast:
15	chr8:91888393..91905767-chr8:91919159..91931807,48	MCF-7	breast:
16	chr8:91899800..91902783-chr8:91960016..91962993,2	MCF-7	breast:
17	chr8:91900303..91903022-chr8:91908530..91911139,2	MCF-7	breast:
18	chr8:91814778..91816903-chr8:91899218..91901898,2	MCF-7	breast:
19	chr8:91900331..91901945-chr8:91954752..91957406,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1003996	0.92[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10108486	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs10112439	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs1011254	0.92[CEU][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13261725	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13265644	0.91[CEU][hapmap];0.80[AMR][1000 genomes]
rs1386111	0.82[ASN][1000 genomes]
rs1386112	0.92[CEU][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1486465	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1542666	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16905571	0.85[EUR][1000 genomes]
rs2129261	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2255173	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2339289	0.92[CEU][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2339291	0.92[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2631012	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631014	0.92[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2631017	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2631024	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2631030	0.99[ASN][1000 genomes]
rs2631033	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2677573	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2677580	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740776	0.81[EUR][1000 genomes]
rs2740782	0.82[ASN][1000 genomes]
rs2740795	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2740799	0.92[CEU][hapmap];0.94[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35918434	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4448231	0.82[AMR][1000 genomes]
rs4634599	0.82[AMR][1000 genomes]
rs55735096	0.80[EUR][1000 genomes]
rs7005565	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs7018395	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7825360	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91890400-91907600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:91890600-91902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:91896000-91907200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:91896000-91907600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:91896000-91907600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:91897200-91901600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr8:91899600-91903200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:91899800-91902800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:91900000-91902200	Enhancers	NHDF-Ad	bronchial
10	chr8:91900200-91907200	Weak transcription	Ovary	ovary
11	chr8:91900400-91901600	Enhancers	Fetal Kidney	kidney
12	chr8:91900400-91901600	Enhancers	Osteobl	bone
13	chr8:91900400-91901800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:91900600-91901800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:91900600-91902000	Enhancers	NHLF	lung
16	chr8:91900800-91901600	Enhancers	Adipose Nuclei	Adipose
17	chr8:91900800-91901800	Enhancers	Liver	Liver
18	chr8:91900800-91901800	Enhancers	HMEC	breast
19	chr8:91900800-91902400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:91901200-91901600	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr8:91901400-91901800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:91901400-91902000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:91901400-91902200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:91901400-91902200	Enhancers	Placenta	Placenta

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