Variant report

Variant	rs7160907
Chromosome Location	chr14:81861240-81861241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81859822..81862537-chr14:81898596..81900276,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1003258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10135926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10147416	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12588572	0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1569012	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17111790	0.82[ASW][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2145123	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2371596	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371599	0.86[CHB][hapmap]
rs2371602	0.86[CHB][hapmap]
rs28476767	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3825606	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3844533	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3844534	0.82[ASW][hapmap];0.91[CHB][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3853419	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853420	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3853421	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3915222	0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4110459	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4110460	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4110462	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4275784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4290414	0.90[CHB][hapmap];0.88[ASN][1000 genomes]
rs4903982	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6574649	0.80[CEU][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6574650	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574651	0.80[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6574653	0.86[CHB][hapmap]
rs6574655	0.82[CHB][hapmap]
rs7145713	0.82[CHB][hapmap]
rs7153104	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7153556	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7153600	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72703752	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72703760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8018198	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8020806	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8022070	0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9652383	0.80[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7160907	NGB	cis	cerebellum	SCAN
rs7160907	STON2	cis	cerebellum	SCAN
rs7160907	SPTLC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81836400-81885800	Weak transcription	Gastric	stomach
2	chr14:81850400-81864000	Weak transcription	Psoas Muscle	Psoas
3	chr14:81852400-81862600	Weak transcription	Hela-S3	cervix
4	chr14:81852600-81861600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:81852800-81863800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:81852800-81899800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:81853200-81862400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:81853200-81866400	Weak transcription	Brain Substantia Nigra	brain
9	chr14:81853200-81866600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:81855000-81866000	Strong transcription	K562	blood
11	chr14:81855200-81864800	Strong transcription	Primary hematopoietic stem cells	blood
12	chr14:81855200-81864800	Weak transcription	Small Intestine	intestine
13	chr14:81856800-81861400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:81857600-81864600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:81858200-81862400	Weak transcription	NHDF-Ad	bronchial
16	chr14:81858200-81865600	Weak transcription	Fetal Brain Female	brain
17	chr14:81858200-81867000	Weak transcription	Brain Germinal Matrix	brain
18	chr14:81858800-81863800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:81858800-81864800	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr14:81859400-81866800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr14:81860000-81861600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:81860000-81866200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr14:81860200-81862000	Weak transcription	HMEC	breast
24	chr14:81860200-81864600	Strong transcription	Ovary	ovary
25	chr14:81860200-81867400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:81860600-81862400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:81860600-81865000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:81860800-81861400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:81860800-81861600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81860800-81861600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:81860800-81861600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:81860800-81861600	ZNF genes & repeats	Esophagus	oesophagus
33	chr14:81860800-81861800	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr14:81860800-81861800	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr14:81860800-81861800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr14:81860800-81862000	Strong transcription	NHEK	skin
37	chr14:81860800-81862800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:81860800-81863000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr14:81860800-81863200	Weak transcription	Fetal Stomach	stomach
40	chr14:81860800-81864200	Strong transcription	Skeletal Muscle Male	skeletal muscle
41	chr14:81860800-81864400	Strong transcription	Brain Anterior Caudate	brain
42	chr14:81860800-81864800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr14:81860800-81865000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:81861000-81861400	ZNF genes & repeats	Liver	Liver
45	chr14:81861000-81861400	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr14:81861000-81861600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr14:81861000-81861600	ZNF genes & repeats	Brain Hippocampus Middle	brain
48	chr14:81861000-81861800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
49	chr14:81861000-81862000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:81861000-81862600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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