Variant report

Variant	rs1792226
Chromosome Location	chr11:71176574-71176575
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	chr11:71176264..71179140-chr11:71273245..71275842,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 10 )

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

rs_ID	r²[population]
rs10898144	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1123007	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11603330	0.81[TSI][hapmap]
rs12224205	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12419279	0.94[CEU][hapmap]
rs12419334	0.80[TSI][hapmap]
rs12422045	0.81[TSI][hapmap]
rs12785878	0.82[TSI][hapmap]
rs12791871	0.82[TSI][hapmap]
rs12797951	0.81[TSI][hapmap]
rs12800438	0.82[TSI][hapmap]
rs1540127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1619577	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1629220	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1630498	0.94[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790324	0.89[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.80[MEX][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1790328	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790330	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790339	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790340	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1790341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790343	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790345	0.94[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];0.87[JPT][hapmap];0.87[MKK][hapmap];0.96[TSI][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1790350	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790353	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792229	1.00[ASW][hapmap];1.00[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792233	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792234	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];0.99[ASN][1000 genomes]
rs1792235	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792264	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792277	0.89[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792280	0.92[ASN][1000 genomes]
rs1792281	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1792282	0.89[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.96[TSI][hapmap];0.85[ASN][1000 genomes]
rs1792283	0.84[ASN][1000 genomes]
rs1792284	0.88[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.87[LWK][hapmap];0.85[MKK][hapmap];0.96[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1792315	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2002064	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2017686	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276358	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276360	0.82[TSI][hapmap]
rs2276362	0.82[TSI][hapmap]
rs2282621	0.85[TSI][hapmap]
rs2511010	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3750997	0.84[TSI][hapmap]
rs3794057	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794060	0.82[TSI][hapmap]
rs4402322	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616066	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944957	0.85[TSI][hapmap]
rs4944959	0.82[TSI][hapmap]
rs736894	0.89[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7928249	0.85[TSI][hapmap]
rs7935125	0.82[CEU][hapmap]
rs7944926	0.82[TSI][hapmap]

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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised 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 miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
6	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs1792226	RP11-660L16.2	cis	Esophagus Muscularis	GTEx
rs1792226	NADSYN1	cis	Nerve Tibial	GTEx
rs1792226	RP11-660L16.2	cis	Muscle Skeletal	GTEx
rs1792226	RP11-660L16.2	cis	Artery Aorta	GTEx
rs1792226	NADSYN1	cis	lymphoblastoid	seeQTL
rs1792226	RP11-660L16.2	cis	Whole Blood	GTEx
rs1792226	AIP	cis	parietal	SCAN
rs1792226	RAB6A	cis	cerebellum	SCAN
rs1792226	RP11-660L16.2	cis	Thyroid	GTEx
rs1792226	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:71165200-71177600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
5	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
6	chr11:71165800-71178200	Strong transcription	NHLF	lung
7	chr11:71165800-71178400	Strong transcription	Fetal Stomach	stomach
8	chr11:71165800-71179200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:71165800-71179200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:71165800-71179200	Strong transcription	Fetal Muscle Leg	muscle
11	chr11:71165800-71180400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:71166000-71178400	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:71166000-71178600	Strong transcription	Primary T cells from cord blood	blood
15	chr11:71166000-71178600	Strong transcription	Spleen	Spleen
16	chr11:71166000-71179200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr11:71166000-71180000	Strong transcription	A549	lung
18	chr11:71166000-71180200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:71166000-71180200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
21	chr11:71166200-71178000	Strong transcription	Aorta	Aorta
22	chr11:71166200-71178000	Strong transcription	Fetal Intestine Small	intestine
23	chr11:71166200-71178400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:71166200-71178400	Strong transcription	Thymus	Thymus
25	chr11:71166200-71178600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:71166200-71178600	Strong transcription	Lung	lung
27	chr11:71166200-71178600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr11:71166200-71178800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr11:71166200-71178800	Strong transcription	Stomach Smooth Muscle	stomach
30	chr11:71166200-71179000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:71166200-71179000	Strong transcription	Adipose Nuclei	Adipose
32	chr11:71166200-71179400	Strong transcription	Liver	Liver
33	chr11:71166200-71179600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:71166200-71179800	Strong transcription	Primary B cells from cord blood	blood
35	chr11:71166200-71180000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:71166200-71180000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:71166200-71180000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:71166200-71180400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:71166400-71177400	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:71166400-71178400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:71166400-71179000	Strong transcription	Primary B cells from peripheral blood	blood
42	chr11:71166400-71179200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:71166400-71179200	Strong transcription	Fetal Intestine Large	intestine
44	chr11:71166400-71180400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:71166600-71176600	Strong transcription	Colonic Mucosa	Colon
46	chr11:71166600-71177200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:71166600-71179200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:71166800-71178400	Strong transcription	GM12878-XiMat	blood
49	chr11:71167200-71179800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:71167400-71194000	Weak transcription	Fetal Kidney	kidney

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