Variant report

Variant	rs1035948
Chromosome Location	chr14:81682392-81682393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81682255..81691444-chr14:81709014..81722196,43	MCF-7	breast:
2	chr14:81635464..81641822-chr14:81682247..81689009,10	K562	blood:
3	chr14:81682072..81683582-chr14:81925884..81928192,2	MCF-7	breast:
4	chr14:81420309..81422917-chr14:81682384..81684780,2	MCF-7	breast:
5	chr14:81405868..81408101-chr14:81681556..81683750,2	K562	blood:

Variant related genes	Relation type
ENSG00000100629	Chromatin interaction
ENSG00000205579	Chromatin interaction
ENSG00000165409	Chromatin interaction
ENSG00000258999	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10149681	0.83[CHD][hapmap]
rs11159493	0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11159494	0.85[CEU][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11622105	0.81[AFR][1000 genomes]
rs11850714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12147118	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs12590764	0.86[EUR][1000 genomes]
rs1864167	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.97[MKK][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1885601	0.82[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1951614	0.85[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1951615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957546	0.81[CHD][hapmap]
rs1957549	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1991516	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099108	0.82[ASN][1000 genomes]
rs2288497	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288499	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2371570	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3815953	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4363794	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55643303	0.93[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs55822231	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs56835982	0.88[AFR][1000 genomes]
rs61980899	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61980900	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6574631	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141288	0.90[AFR][1000 genomes]
rs7142641	0.83[CHD][hapmap]
rs7148100	0.83[CHD][hapmap]
rs7149672	0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs759939	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8004096	0.86[EUR][1000 genomes]
rs8007841	0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs8008870	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs8009519	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011097	0.86[EUR][1000 genomes]
rs8014406	0.83[CHD][hapmap]
rs8015423	0.84[CHD][hapmap];0.89[GIH][hapmap];0.82[TSI][hapmap];0.82[AFR][1000 genomes]
rs8021125	0.86[EUR][1000 genomes]
rs8021385	0.86[EUR][1000 genomes]
rs9646167	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806020	0.83[CHD][hapmap]
rs9806027	0.87[CEU][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9944085	0.84[CHD][hapmap];0.93[GIH][hapmap];0.82[TSI][hapmap]

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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
2	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
5	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
13	chr14:81662600-81684600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:81662800-81685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:81663000-81683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:81663000-81683800	Weak transcription	Fetal Brain Male	brain
17	chr14:81666400-81683400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr14:81666800-81685000	Weak transcription	Stomach Mucosa	stomach
19	chr14:81667000-81682800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:81667000-81682800	Strong transcription	Fetal Thymus	thymus
21	chr14:81667400-81683200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:81667600-81684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:81669600-81684600	Weak transcription	HSMMtube	muscle
24	chr14:81670600-81685200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr14:81671200-81683400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:81672600-81682400	Strong transcription	Fetal Intestine Large	intestine
27	chr14:81672800-81684600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr14:81673600-81683600	ZNF genes & repeats	GM12878-XiMat	blood
29	chr14:81674000-81684000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr14:81674000-81685000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr14:81674000-81685400	Weak transcription	Colonic Mucosa	Colon
32	chr14:81675200-81683800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:81675200-81683800	Weak transcription	Lung	lung
34	chr14:81675200-81685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr14:81675200-81685400	Weak transcription	Pancreas	Pancrea
36	chr14:81675200-81685600	Weak transcription	Gastric	stomach
37	chr14:81675400-81683800	Weak transcription	Spleen	Spleen
38	chr14:81675400-81685400	Weak transcription	Esophagus	oesophagus
39	chr14:81675600-81683400	Strong transcription	HSMM	muscle
40	chr14:81675600-81684600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:81676000-81682800	Strong transcription	Hela-S3	cervix
42	chr14:81676200-81682800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr14:81676200-81683400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr14:81676400-81683200	Weak transcription	Brain Angular Gyrus	brain
45	chr14:81676400-81683200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:81676400-81684600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:81676600-81683000	Weak transcription	Brain Substantia Nigra	brain
48	chr14:81676600-81683400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr14:81676600-81683600	Strong transcription	Primary B cells from cord blood	blood
50	chr14:81676600-81684400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links