Variant report

Variant	rs8007841
Chromosome Location	chr14:81647878-81647879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81638146..81640079-chr14:81645451..81648200,3	MCF-7	breast:
2	chr14:81643515..81648900-chr14:81684307..81689030,7	K562	blood:
3	chr14:81643246..81655314-chr14:81683241..81689401,24	K562	blood:
4	chr14:81642022..81644044-chr14:81645949..81648164,2	MCF-7	breast:
5	chr14:81647751..81650741-chr14:81651817..81654403,2	K562	blood:
6	chr14:81647401..81650665-chr14:81685451..81688014,6	MCF-7	breast:
7	chr14:81647686..81650322-chr14:81684054..81687029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10133562	0.86[CHB][hapmap];0.82[CHD][hapmap]
rs10149681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1035948	0.83[CHD][hapmap];0.80[ASN][1000 genomes]
rs10483975	0.81[CHB][hapmap]
rs11159493	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs11159494	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs11621116	0.85[CHB][hapmap]
rs11850714	0.82[ASN][1000 genomes]
rs12147118	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12590764	0.92[ASN][1000 genomes]
rs1864167	0.84[CHD][hapmap]
rs1864169	0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs1885601	0.87[CHB][hapmap];0.86[CHD][hapmap];0.82[ASN][1000 genomes]
rs1951614	0.82[CHB][hapmap];0.86[CHD][hapmap];0.81[ASN][1000 genomes]
rs1951615	0.81[ASN][1000 genomes]
rs1951616	0.96[ASN][1000 genomes]
rs1957546	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2099108	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241621	0.91[CHB][hapmap]
rs2241622	0.86[CHB][hapmap]
rs2288498	0.95[ASN][1000 genomes]
rs2288499	0.86[CHD][hapmap]
rs28890880	0.86[ASN][1000 genomes]
rs3815953	0.86[CHD][hapmap]
rs4363794	0.94[ASN][1000 genomes]
rs6574631	0.86[CHD][hapmap];0.80[ASN][1000 genomes]
rs7142641	0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7144005	0.95[ASN][1000 genomes]
rs7148100	0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7149672	0.86[ASW][hapmap];0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8004096	0.94[ASN][1000 genomes]
rs8006036	0.93[ASN][1000 genomes]
rs8010219	0.91[ASN][1000 genomes]
rs8011097	0.92[ASN][1000 genomes]
rs8014406	0.86[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs8016352	0.96[ASN][1000 genomes]
rs8016982	0.92[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8021125	0.92[ASN][1000 genomes]
rs8021385	0.92[ASN][1000 genomes]
rs9806020	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9806027	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs9944085	0.82[CHB][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	esv3399879	chr14:81647816-81648237	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs8007841	STON2	cis	parietal	SCAN
rs8007841	C14orf145	cis	parietal	SCAN
rs8007841	GSTZ1	cis	parietal	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81652200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81637000-81659000	Weak transcription	Esophagus	oesophagus
3	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
4	chr14:81637200-81648400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr14:81637200-81650000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:81637200-81650200	Weak transcription	Fetal Lung	lung
7	chr14:81637200-81651400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr14:81637200-81651800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:81637200-81652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:81637200-81652600	Weak transcription	NHEK	skin
11	chr14:81637200-81652800	Weak transcription	Fetal Stomach	stomach
12	chr14:81637200-81653000	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:81637200-81658200	Weak transcription	HSMMtube	muscle
14	chr14:81637200-81658800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr14:81637200-81658800	Weak transcription	Colonic Mucosa	Colon
16	chr14:81637200-81658800	Weak transcription	Left Ventricle	heart
17	chr14:81637400-81648200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:81637400-81649800	Weak transcription	HepG2	liver
19	chr14:81637400-81650000	Weak transcription	Adipose Nuclei	Adipose
20	chr14:81637400-81650000	Weak transcription	Fetal Kidney	kidney
21	chr14:81637400-81651600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:81637400-81651800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr14:81637400-81652200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:81637400-81653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:81637400-81653000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:81637400-81656800	Weak transcription	HMEC	breast
27	chr14:81637400-81658800	Weak transcription	Fetal Brain Male	brain
28	chr14:81637400-81659000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr14:81637600-81650000	Weak transcription	Hela-S3	cervix
30	chr14:81637600-81652400	Weak transcription	A549	lung
31	chr14:81638200-81648200	Weak transcription	HUVEC	blood vessel
32	chr14:81638600-81670200	Weak transcription	Psoas Muscle	Psoas
33	chr14:81639400-81653000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:81640000-81657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:81640000-81658800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:81642400-81658800	Weak transcription	Pancreas	Pancrea
37	chr14:81643600-81654200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:81643600-81658800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr14:81643800-81649000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:81644000-81649000	Weak transcription	Aorta	Aorta
42	chr14:81644000-81655400	Strong transcription	Dnd41	blood
43	chr14:81644200-81648600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:81644200-81648800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:81644200-81649000	Weak transcription	NHLF	lung
46	chr14:81644200-81658400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr14:81644400-81648400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr14:81644400-81648600	Weak transcription	Ovary	ovary
50	chr14:81644400-81648600	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links