Variant report

Variant	rs7142641
Chromosome Location	chr14:81677454-81677455
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81668782..81673405-chr14:81676338..81680193,5	K562	blood:
2	chr14:81649550..81651536-chr14:81676600..81679545,2	K562	blood:

Variant related genes	Relation type
ENSG00000221303	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10133562	0.84[CEU][hapmap];0.82[CHD][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap]
rs10149681	0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1035948	0.83[CHD][hapmap]
rs11621116	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs12147118	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12586249	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12590764	0.93[ASN][1000 genomes]
rs17111601	0.83[CEU][hapmap]
rs1864167	0.83[CHB][hapmap];0.84[CHD][hapmap]
rs1864169	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1885601	0.87[CHD][hapmap]
rs1951614	0.86[CHD][hapmap]
rs1951616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957546	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1991516	0.83[CHB][hapmap]
rs2099108	0.96[ASN][1000 genomes]
rs2241622	0.82[CHB][hapmap];1.00[MEX][hapmap]
rs2288498	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2288499	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs28890880	0.88[ASN][1000 genomes]
rs3815953	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs4363794	0.96[ASN][1000 genomes]
rs4640110	0.84[EUR][1000 genomes]
rs4899786	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6574631	0.83[CHB][hapmap];0.87[CHD][hapmap]
rs7144005	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7148100	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149294	0.80[AMR][1000 genomes]
rs7149672	0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7160599	0.83[CEU][hapmap];0.83[CHB][hapmap];0.80[AMR][1000 genomes]
rs7161073	0.84[CEU][hapmap];0.91[CHB][hapmap]
rs759939	0.83[CHB][hapmap]
rs8004096	0.91[ASN][1000 genomes]
rs8006036	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8007841	0.86[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs8009888	0.82[AMR][1000 genomes]
rs8010219	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8011097	0.93[ASN][1000 genomes]
rs8014406	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8016352	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8016982	0.95[CHB][hapmap];0.87[JPT][hapmap];0.92[ASN][1000 genomes]
rs8021125	0.93[ASN][1000 genomes]
rs8021385	0.93[ASN][1000 genomes]
rs9646167	0.83[CHB][hapmap]
rs9806020	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9806027	0.85[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][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	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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7142641	ADCK1	cis	parietal	SCAN
rs7142641	C14orf4	cis	parietal	SCAN
rs7142641	GSTZ1	cis	parietal	SCAN

Chromatin state (count:125 , 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	chr14:81649200-81677800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
14	chr14:81662600-81684600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:81662800-81685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:81663000-81683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:81663000-81683800	Weak transcription	Fetal Brain Male	brain
18	chr14:81666400-81683400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr14:81666800-81678600	Strong transcription	Dnd41	blood
20	chr14:81666800-81685000	Weak transcription	Stomach Mucosa	stomach
21	chr14:81667000-81682800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:81667000-81682800	Strong transcription	Fetal Thymus	thymus
23	chr14:81667400-81678000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:81667400-81683200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:81667600-81678600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:81667600-81684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:81667800-81678800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:81667800-81682000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:81669600-81684600	Weak transcription	HSMMtube	muscle
30	chr14:81670400-81679200	Weak transcription	NHDF-Ad	bronchial
31	chr14:81670600-81685200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:81671200-81683400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr14:81671400-81679200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr14:81671600-81678200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr14:81672600-81679200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:81672600-81682400	Strong transcription	Fetal Intestine Large	intestine
37	chr14:81672800-81679000	Weak transcription	NH-A	brain
38	chr14:81672800-81684600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:81673000-81678400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:81673200-81677600	Weak transcription	Fetal Heart	heart
41	chr14:81673600-81683600	ZNF genes & repeats	GM12878-XiMat	blood
42	chr14:81674000-81681600	Weak transcription	Fetal Brain Female	brain
43	chr14:81674000-81684000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:81674000-81685000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr14:81674000-81685400	Weak transcription	Colonic Mucosa	Colon
46	chr14:81674200-81678400	Weak transcription	Colon Smooth Muscle	Colon
47	chr14:81674200-81681600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr14:81674400-81678200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr14:81674400-81681200	Weak transcription	HUVEC	blood vessel
50	chr14:81674800-81678200	Strong transcription	Fetal Lung	lung

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