Variant report

Variant	rs6969227
Chromosome Location	chr7:137259877-137259878
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs10081252	1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10226970	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10229086	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10232182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10233537	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10234462	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10237704	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10238276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10238305	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10242081	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10242488	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10242747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10245413	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10246490	1.00[EUR][1000 genomes]
rs10246829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10246952	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10252668	1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10255388	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10255937	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10260210	0.89[EUR][1000 genomes]
rs10260958	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10261618	1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10264172	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10264413	1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10267688	0.88[ASN][1000 genomes]
rs10268521	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10271043	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10273321	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10274366	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10274702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10277872	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10279489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10280229	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs10281244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1358445	0.89[EUR][1000 genomes]
rs1358446	0.89[EUR][1000 genomes]
rs1358447	0.89[EUR][1000 genomes]
rs1364367	1.00[EUR][1000 genomes]
rs1525043	1.00[EUR][1000 genomes]
rs1525044	1.00[EUR][1000 genomes]
rs1525046	1.00[EUR][1000 genomes]
rs1525047	1.00[EUR][1000 genomes]
rs1525049	1.00[EUR][1000 genomes]
rs1614024	1.00[EUR][1000 genomes]
rs1615692	1.00[EUR][1000 genomes]
rs1629172	1.00[EUR][1000 genomes]
rs1646364	1.00[EUR][1000 genomes]
rs1646371	1.00[EUR][1000 genomes]
rs1646372	1.00[EUR][1000 genomes]
rs1646373	1.00[EUR][1000 genomes]
rs1646375	1.00[EUR][1000 genomes]
rs1646376	1.00[EUR][1000 genomes]
rs1646377	1.00[EUR][1000 genomes]
rs1646378	1.00[EUR][1000 genomes]
rs1646379	0.82[EUR][1000 genomes]
rs1646380	1.00[EUR][1000 genomes]
rs1646381	1.00[EUR][1000 genomes]
rs1646382	1.00[EUR][1000 genomes]
rs1646383	1.00[EUR][1000 genomes]
rs1646384	1.00[EUR][1000 genomes]
rs1646385	1.00[EUR][1000 genomes]
rs1646386	1.00[EUR][1000 genomes]
rs1646387	1.00[EUR][1000 genomes]
rs1646388	1.00[EUR][1000 genomes]
rs1646389	1.00[EUR][1000 genomes]
rs1646390	1.00[EUR][1000 genomes]
rs1646393	1.00[EUR][1000 genomes]
rs1646395	1.00[EUR][1000 genomes]
rs1646397	1.00[EUR][1000 genomes]
rs1646400	1.00[EUR][1000 genomes]
rs1646401	1.00[EUR][1000 genomes]
rs17169237	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs17169262	1.00[EUR][1000 genomes]
rs17169284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17169298	1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17169313	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17169324	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1723086	1.00[EUR][1000 genomes]
rs1723088	1.00[EUR][1000 genomes]
rs1723089	1.00[EUR][1000 genomes]
rs1723090	1.00[EUR][1000 genomes]
rs1723091	1.00[EUR][1000 genomes]
rs1723094	1.00[EUR][1000 genomes]
rs1723095	1.00[EUR][1000 genomes]
rs1723096	1.00[EUR][1000 genomes]
rs1723101	1.00[EUR][1000 genomes]
rs1723102	1.00[EUR][1000 genomes]
rs1723103	1.00[EUR][1000 genomes]
rs1723104	1.00[EUR][1000 genomes]
rs1723106	1.00[EUR][1000 genomes]
rs1723107	1.00[EUR][1000 genomes]
rs1723109	1.00[EUR][1000 genomes]
rs1723119	1.00[EUR][1000 genomes]
rs1723120	1.00[EUR][1000 genomes]
rs1723122	1.00[EUR][1000 genomes]
rs1723123	1.00[EUR][1000 genomes]
rs1728441	1.00[EUR][1000 genomes]
rs1728442	1.00[EUR][1000 genomes]
rs1728443	1.00[EUR][1000 genomes]
rs1728450	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1728453	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs1728476	0.89[EUR][1000 genomes]
rs1728491	1.00[EUR][1000 genomes]
rs1728493	1.00[EUR][1000 genomes]
rs1728495	1.00[EUR][1000 genomes]
rs1728496	1.00[EUR][1000 genomes]
rs1728497	1.00[EUR][1000 genomes]
rs1728498	1.00[EUR][1000 genomes]
rs2293547	0.89[EUR][1000 genomes]
rs2293548	0.89[EUR][1000 genomes]
rs2550979	1.00[EUR][1000 genomes]
rs2550981	1.00[EUR][1000 genomes]
rs2692001	1.00[EUR][1000 genomes]
rs2692002	1.00[EUR][1000 genomes]
rs2692003	1.00[EUR][1000 genomes]
rs2692006	1.00[EUR][1000 genomes]
rs2692007	1.00[EUR][1000 genomes]
rs2692008	1.00[EUR][1000 genomes]
rs28401380	0.89[EUR][1000 genomes]
rs28451058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28521198	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28572056	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28683654	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28711988	0.89[EUR][1000 genomes]
rs28736349	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28755996	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28758372	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800605	1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800609	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800610	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3800611	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3823545	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3823547	1.00[CHB][hapmap];1.00[JPT][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]
rs57226761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58048755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59024585	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6945142	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6945473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6946246	0.89[EUR][1000 genomes]
rs6949210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949568	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963894	0.89[EUR][1000 genomes]
rs6964439	0.89[EUR][1000 genomes]
rs6964837	0.89[EUR][1000 genomes]
rs6969358	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs697596	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs706560	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs706561	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs706562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs706567	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs706568	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs73449424	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73449434	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73449444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73451467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73453511	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73453514	1.00[EUR][1000 genomes]
rs73453584	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73453598	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73728712	0.89[EUR][1000 genomes]
rs73728713	0.89[EUR][1000 genomes]
rs73728732	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7781327	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7800321	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs834051	1.00[EUR][1000 genomes]
rs834052	1.00[EUR][1000 genomes]
rs834054	1.00[EUR][1000 genomes]
rs834055	1.00[EUR][1000 genomes]
rs834056	1.00[EUR][1000 genomes]
rs834057	1.00[EUR][1000 genomes]
rs834058	1.00[EUR][1000 genomes]
rs834069	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs834077	1.00[EUR][1000 genomes]
rs834078	1.00[EUR][1000 genomes]
rs834086	0.89[EUR][1000 genomes]
rs834095	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs834099	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs834100	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs834438	1.00[ASN][1000 genomes]
rs834439	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs834443	0.82[ASN][1000 genomes]
rs834444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs834446	0.82[ASN][1000 genomes]
rs834447	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs863082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs865021	1.00[EUR][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	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137215400-137275400	Weak transcription	Brain Angular Gyrus	brain
2	chr7:137224400-137274800	Weak transcription	HSMMtube	muscle
3	chr7:137224800-137262400	Weak transcription	HSMM	muscle
4	chr7:137237200-137264000	Weak transcription	NH-A	brain
5	chr7:137237400-137277800	Weak transcription	Aorta	Aorta
6	chr7:137249400-137262800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:137249800-137265000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:137251000-137264600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:137253400-137261600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:137255000-137274800	Weak transcription	Brain Anterior Caudate	brain
11	chr7:137256200-137261400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:137256200-137261800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:137257400-137264400	Weak transcription	NHDF-Ad	bronchial
14	chr7:137257600-137262400	Weak transcription	Osteobl	bone
15	chr7:137257600-137262600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:137257600-137264400	Weak transcription	Fetal Heart	heart
17	chr7:137259600-137260000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:137259600-137260000	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:137259600-137260400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:137259600-137264200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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