Variant report

Variant	rs12701760
Chromosome Location	chr7:39786395-39786396
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39619358..39620673-chr7:39785487..39786442,10	K562	blood:
2	chr7:39779254..39781086-chr7:39785140..39787112,2	K562	blood:
3	chr7:39773034..39774546-chr7:39784465..39787003,2	K562	blood:
4	chr7:39662259..39664387-chr7:39785693..39787370,2	K562	blood:
5	chr7:39785039..39787598-chr7:39788588..39791409,2	K562	blood:
6	chr7:39661079..39664828-chr7:39786024..39788070,5	MCF-7	breast:
7	chr7:39779586..39783810-chr7:39784294..39787112,4	K562	blood:
8	chr7:39619675..39620675-chr7:39785462..39786424,9	MCF-7	breast:
9	chr7:39784501..39786932-chr7:40060004..40061750,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006451	Chromatin interaction
ENSG00000188185	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11764732	0.85[ASN][1000 genomes]
rs12701761	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12701762	0.87[ASN][1000 genomes]
rs12701763	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13223212	0.81[ASN][1000 genomes]
rs13247273	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1548620	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2329526	0.85[ASN][1000 genomes]
rs6950742	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6966007	0.85[ASN][1000 genomes]
rs6968962	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6977471	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7458148	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv427777	chr7:39726513-39936904	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv887973	chr7:39772654-40110720	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39774200-39788800	Weak transcription	HSMMtube	muscle
2	chr7:39774200-39790400	Weak transcription	Fetal Kidney	kidney
3	chr7:39774200-39793400	Weak transcription	Ovary	ovary
4	chr7:39774200-39807400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:39774400-39794000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:39774400-39797600	Weak transcription	Thymus	Thymus
7	chr7:39775600-39788600	Weak transcription	NHLF	lung
8	chr7:39775800-39786400	Weak transcription	Spleen	Spleen
9	chr7:39775800-39788600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:39775800-39789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr7:39775800-39789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:39775800-39793400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr7:39775800-39796400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:39775800-39807000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr7:39775800-39811200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr7:39776000-39793800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:39776200-39793800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr7:39776200-39794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:39776600-39820400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr7:39776800-39790000	Weak transcription	Dnd41	blood
21	chr7:39781800-39793400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr7:39782200-39786800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:39782400-39789200	Weak transcription	Aorta	Aorta
24	chr7:39782400-39790200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:39782400-39792800	Weak transcription	Fetal Intestine Small	intestine
26	chr7:39782400-39793400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:39782400-39809000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:39783400-39789200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:39784400-39786400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr7:39784400-39786600	Enhancers	Fetal Muscle Leg	muscle
31	chr7:39784600-39786600	Enhancers	Fetal Muscle Trunk	muscle
32	chr7:39784600-39788200	Enhancers	HMEC	breast
33	chr7:39784600-39789000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:39784800-39786400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:39784800-39793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:39784800-39793400	Weak transcription	Esophagus	oesophagus
37	chr7:39784800-39802600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:39785000-39831800	Weak transcription	Primary B cells from cord blood	blood
39	chr7:39785200-39786800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:39785400-39786400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:39785600-39786400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:39785600-39787400	Enhancers	NHEK	skin
43	chr7:39785600-39787800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:39785800-39788800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr7:39786000-39787600	Weak transcription	NHDF-Ad	bronchial
46	chr7:39786000-39787800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:39786000-39788000	Weak transcription	Osteobl	bone
48	chr7:39786000-39788600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr7:39786000-39788600	Weak transcription	NH-A	brain
50	chr7:39786000-39788800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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