Variant report

Variant	rs821783
Chromosome Location	chr7:112469778-112469779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:112469510..112471987-chr7:112486621..112488702,2	K562	blood:
2	chr7:112469172..112470968-chr7:112479580..112481135,2	K562	blood:
3	chr7:112464327..112467031-chr7:112469420..112472125,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10249952	1.00[CHB][hapmap]
rs10273589	0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs10275208	1.00[CHB][hapmap]
rs1227163	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1227171	0.84[ASW][hapmap];0.95[CEU][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1227174	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1227181	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs1227190	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1238698	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs12535487	0.84[ASW][hapmap];0.91[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs12539085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1530756	1.00[CHB][hapmap]
rs1533851	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1547554	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17160078	1.00[CHB][hapmap]
rs1718944	1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1718948	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1718961	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1718967	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1796492	0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap]
rs1796493	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1796512	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1796516	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs1996843	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2396573	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2396574	1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2457	0.84[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.93[TSI][hapmap]
rs2687267	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2708295	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2708296	0.89[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35548417	0.81[EUR][1000 genomes]
rs3997335	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3997336	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494324	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs548994	1.00[CEU][hapmap];0.89[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs549688	1.00[ASW][hapmap];0.95[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs552304	1.00[ASW][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.98[MKK][hapmap];0.91[TSI][hapmap];0.95[YRI][hapmap];0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs564494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs565641	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58858661	0.82[EUR][1000 genomes]
rs62472532	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6466421	0.91[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap]
rs660743	0.85[JPT][hapmap];0.94[YRI][hapmap]
rs672911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs685259	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6944843	1.00[CHB][hapmap]
rs6948575	0.91[GIH][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6953522	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs6967716	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs726593	0.91[CEU][hapmap];0.82[JPT][hapmap]
rs7777973	0.84[ASW][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.89[MKK][hapmap];0.89[TSI][hapmap]
rs7781871	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs7785774	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7803405	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7806781	0.82[CHB][hapmap]
rs7808616	1.00[CHB][hapmap]
rs821782	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs821785	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.90[MEX][hapmap];0.93[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs821787	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9969347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	esv2752144	chr7:112398372-112499924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1031405	chr7:112431403-112476756	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv429801	chr7:112434049-112477049	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	esv2752145	chr7:112434049-112500049	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	nsv1023222	chr7:112434413-112476756	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1034863	chr7:112434413-112504160	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
9	nsv5905	chr7:112445425-112521797	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs821783	CAV2	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112442800-112472800	Weak transcription	Lung	lung
2	chr7:112456400-112470000	Weak transcription	Right Ventricle	heart
3	chr7:112456600-112470200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:112457200-112470000	Weak transcription	Fetal Thymus	thymus
5	chr7:112457600-112474000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:112458400-112470400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:112459800-112474000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:112460600-112471400	Weak transcription	Esophagus	oesophagus
9	chr7:112460800-112473000	Weak transcription	Pancreas	Pancrea
10	chr7:112460800-112486000	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr7:112461000-112469800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:112461000-112473000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:112461400-112472800	Weak transcription	Spleen	Spleen
14	chr7:112461400-112473000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:112462400-112470000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:112463800-112469800	Weak transcription	Fetal Lung	lung
17	chr7:112464000-112473400	Weak transcription	Thymus	Thymus
18	chr7:112466200-112469800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr7:112466400-112469800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:112466600-112469800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:112466600-112476200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:112466800-112472800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr7:112467000-112471000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:112467400-112472400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:112467600-112469800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr7:112467600-112470800	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr7:112467800-112470000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:112467800-112470000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:112467800-112470200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:112467800-112470400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:112467800-112471600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:112467800-112471800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:112467800-112471800	Strong transcription	Left Ventricle	heart
34	chr7:112467800-112472000	Strong transcription	Fetal Intestine Large	intestine
35	chr7:112468000-112470000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:112468000-112470200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr7:112468000-112470800	ZNF genes & repeats	Primary B cells from cord blood	blood
38	chr7:112468000-112472000	ZNF genes & repeats	Dnd41	blood
39	chr7:112468000-112476000	Weak transcription	Gastric	stomach
40	chr7:112468200-112470400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr7:112468200-112470600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:112468200-112470800	Strong transcription	HSMM	muscle
43	chr7:112468200-112471400	Weak transcription	Fetal Intestine Small	intestine
44	chr7:112468200-112471400	Weak transcription	Fetal Stomach	stomach
45	chr7:112468200-112472000	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr7:112468200-112472200	Strong transcription	Osteobl	bone
47	chr7:112468400-112469800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:112468400-112469800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr7:112468400-112470000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:112468400-112470600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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