Variant report

Variant	rs12666947
Chromosome Location	chr7:120887544-120887545
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10225165	0.93[ASN][1000 genomes]
rs10225276	0.91[ASN][1000 genomes]
rs10266975	0.93[ASN][1000 genomes]
rs10480747	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10500083	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10953932	0.98[ASN][1000 genomes]
rs10953933	0.96[ASN][1000 genomes]
rs10953934	0.93[ASN][1000 genomes]
rs1106040	0.93[ASN][1000 genomes]
rs11509199	0.96[ASN][1000 genomes]
rs11532789	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11763675	0.96[ASN][1000 genomes]
rs11765163	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11770502	0.96[ASN][1000 genomes]
rs11771945	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533196	0.96[ASN][1000 genomes]
rs12539571	0.91[ASN][1000 genomes]
rs12671290	1.00[ASN][1000 genomes]
rs12672898	0.98[ASN][1000 genomes]
rs12706333	0.93[ASN][1000 genomes]
rs12706334	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1317515	0.93[ASN][1000 genomes]
rs13244291	0.91[ASN][1000 genomes]
rs13247350	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13247392	0.91[ASN][1000 genomes]
rs1524506	0.98[ASN][1000 genomes]
rs1524507	0.98[ASN][1000 genomes]
rs1534014	1.00[ASN][1000 genomes]
rs1534016	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534017	0.98[ASN][1000 genomes]
rs1534018	0.98[ASN][1000 genomes]
rs1534019	1.00[ASN][1000 genomes]
rs17284918	0.97[ASN][1000 genomes]
rs17284988	0.97[ASN][1000 genomes]
rs17285023	0.97[ASN][1000 genomes]
rs17357115	0.97[ASN][1000 genomes]
rs1917119	0.98[ASN][1000 genomes]
rs1949803	0.91[ASN][1000 genomes]
rs2140648	0.93[ASN][1000 genomes]
rs2222543	0.93[ASN][1000 genomes]
rs2272196	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2402563	0.96[ASN][1000 genomes]
rs3942607	1.00[ASN][1000 genomes]
rs4403351	0.96[ASN][1000 genomes]
rs4609139	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4731000	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4731001	1.00[ASN][1000 genomes]
rs4731002	0.96[ASN][1000 genomes]
rs4731003	0.91[ASN][1000 genomes]
rs4731005	0.93[ASN][1000 genomes]
rs4731006	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4731007	0.91[ASN][1000 genomes]
rs4731008	0.93[ASN][1000 genomes]
rs4731009	0.93[ASN][1000 genomes]
rs60706788	0.96[ASN][1000 genomes]
rs6466773	1.00[ASN][1000 genomes]
rs6466774	1.00[ASN][1000 genomes]
rs6942652	0.96[ASN][1000 genomes]
rs6944914	0.96[ASN][1000 genomes]
rs6947934	0.93[ASN][1000 genomes]
rs6948725	0.93[ASN][1000 genomes]
rs6960849	0.96[ASN][1000 genomes]
rs6965195	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6967129	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6970383	0.93[ASN][1000 genomes]
rs6977352	0.98[ASN][1000 genomes]
rs6978080	0.98[ASN][1000 genomes]
rs6979948	0.96[ASN][1000 genomes]
rs71546706	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73217365	0.89[ASN][1000 genomes]
rs7778938	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792071	1.00[ASN][1000 genomes]
rs7795660	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7795692	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804720	0.91[ASN][1000 genomes]
rs7805374	1.00[ASN][1000 genomes]
rs7806875	0.96[ASN][1000 genomes]
rs7808120	0.98[ASN][1000 genomes]
rs7810755	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7811248	0.96[ASN][1000 genomes]
rs798914	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv889122	chr7:120860912-120906744	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120868600-120887600	Weak transcription	Right Ventricle	heart
2	chr7:120872600-120936600	Weak transcription	Psoas Muscle	Psoas
3	chr7:120873400-120888800	Weak transcription	Fetal Heart	heart
4	chr7:120876000-120889000	Weak transcription	Fetal Lung	lung
5	chr7:120877000-120887600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:120878000-120888600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:120883000-120887800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:120883000-120888000	Strong transcription	Liver	Liver
9	chr7:120883600-120887600	Strong transcription	Adipose Nuclei	Adipose
10	chr7:120883800-120887600	Weak transcription	Esophagus	oesophagus
11	chr7:120883800-120888000	Weak transcription	Spleen	Spleen
12	chr7:120883800-120888600	Enhancers	Fetal Thymus	thymus
13	chr7:120884000-120888600	Strong transcription	Stomach Smooth Muscle	stomach
14	chr7:120884200-120888000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:120884200-120888000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr7:120884600-120889600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:120884800-120887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:120884800-120887800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:120885000-120887600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:120885000-120887600	Weak transcription	Fetal Muscle Leg	muscle
21	chr7:120885000-120887600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr7:120885000-120888000	Weak transcription	NHDF-Ad	bronchial
23	chr7:120885000-120888200	Weak transcription	Pancreas	Pancrea
24	chr7:120885000-120889600	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr7:120885200-120889000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:120885200-120889800	Strong transcription	HSMM	muscle
27	chr7:120885400-120889000	Weak transcription	Primary B cells from cord blood	blood
28	chr7:120885800-120888000	Strong transcription	Ovary	ovary
29	chr7:120886000-120887800	Enhancers	Thymus	Thymus
30	chr7:120886200-120888400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:120886400-120888000	Strong transcription	Left Ventricle	heart
32	chr7:120886400-120889600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:120886600-120910600	Weak transcription	Fetal Kidney	kidney
34	chr7:120887000-120888600	ZNF genes & repeats	Aorta	Aorta
35	chr7:120887000-120888800	Strong transcription	Colon Smooth Muscle	Colon
36	chr7:120887200-120889400	ZNF genes & repeats	K562	blood
37	chr7:120887200-120906400	Weak transcription	HSMMtube	muscle
38	chr7:120887400-120888400	ZNF genes & repeats	Fetal Stomach	stomach
39	chr7:120887400-120888400	Strong transcription	Rectal Smooth Muscle	rectum
40	chr7:120887400-120888400	ZNF genes & repeats	Dnd41	blood
41	chr7:120887400-120888400	Strong transcription	NHLF	lung

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