Variant report

Variant	rs2550977
Chromosome Location	chr7:137243230-137243231
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	chr7:137239063..137241014-chr7:137242699..137244238,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10260210	0.82[ASN][1000 genomes]
rs1358445	0.82[ASN][1000 genomes]
rs1358446	0.82[ASN][1000 genomes]
rs1358447	0.82[ASN][1000 genomes]
rs1364367	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1525043	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1525044	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1525046	0.86[ASN][1000 genomes]
rs1525047	0.86[ASN][1000 genomes]
rs1525048	0.86[ASN][1000 genomes]
rs1525049	0.86[ASN][1000 genomes]
rs1614024	0.86[ASN][1000 genomes]
rs1615692	0.86[ASN][1000 genomes]
rs1627230	0.85[ASN][1000 genomes]
rs1629172	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1632142	0.86[ASN][1000 genomes]
rs1646364	0.86[ASN][1000 genomes]
rs1646371	0.86[ASN][1000 genomes]
rs1646372	0.86[ASN][1000 genomes]
rs1646373	0.86[ASN][1000 genomes]
rs1646375	0.86[ASN][1000 genomes]
rs1646376	0.86[ASN][1000 genomes]
rs1646377	0.86[ASN][1000 genomes]
rs1646378	0.86[ASN][1000 genomes]
rs1646381	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646382	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646383	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646384	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646385	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646386	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646387	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646388	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646389	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1646390	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646393	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646395	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1646397	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646400	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1646401	0.86[ASN][1000 genomes]
rs1646403	0.85[ASN][1000 genomes]
rs17169262	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723086	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723088	0.86[ASN][1000 genomes]
rs1723089	0.86[ASN][1000 genomes]
rs1723090	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723091	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723094	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723095	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723096	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723101	0.83[ASN][1000 genomes]
rs1723102	0.83[ASN][1000 genomes]
rs1723103	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723104	0.87[ASN][1000 genomes]
rs1723106	0.86[ASN][1000 genomes]
rs1723107	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723108	0.86[ASN][1000 genomes]
rs1723109	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1723119	0.86[ASN][1000 genomes]
rs1723120	0.86[ASN][1000 genomes]
rs1723122	0.86[ASN][1000 genomes]
rs1723123	0.86[ASN][1000 genomes]
rs1728441	0.86[ASN][1000 genomes]
rs1728442	0.86[ASN][1000 genomes]
rs1728443	0.86[ASN][1000 genomes]
rs1728476	0.82[ASN][1000 genomes]
rs1728491	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1728493	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1728495	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1728496	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1728497	0.86[ASN][1000 genomes]
rs1728498	0.86[ASN][1000 genomes]
rs2293547	0.82[ASN][1000 genomes]
rs2293548	0.82[ASN][1000 genomes]
rs2550979	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2550981	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2692001	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2692002	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2692003	0.86[ASN][1000 genomes]
rs2692006	0.86[ASN][1000 genomes]
rs2692007	0.86[ASN][1000 genomes]
rs2692008	0.86[ASN][1000 genomes]
rs28401380	0.82[ASN][1000 genomes]
rs28653652	0.82[ASN][1000 genomes]
rs28711988	0.82[ASN][1000 genomes]
rs6467709	0.82[ASN][1000 genomes]
rs6946246	0.82[ASN][1000 genomes]
rs6963894	0.82[ASN][1000 genomes]
rs6964439	0.82[ASN][1000 genomes]
rs6964837	0.82[ASN][1000 genomes]
rs73453514	0.85[ASN][1000 genomes]
rs73728712	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs73728713	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs834051	0.86[ASN][1000 genomes]
rs834052	0.86[ASN][1000 genomes]
rs834054	0.85[ASN][1000 genomes]
rs834055	0.86[ASN][1000 genomes]
rs834056	0.86[ASN][1000 genomes]
rs834057	0.86[ASN][1000 genomes]
rs834058	0.86[ASN][1000 genomes]
rs834067	0.83[ASN][1000 genomes]
rs834069	0.81[ASN][1000 genomes]
rs834075	0.82[ASN][1000 genomes]
rs834077	0.82[ASN][1000 genomes]
rs834078	0.82[ASN][1000 genomes]
rs834079	0.82[ASN][1000 genomes]
rs834086	0.82[ASN][1000 genomes]
rs834088	0.82[ASN][1000 genomes]
rs834093	0.82[ASN][1000 genomes]
rs834445	0.83[ASN][1000 genomes]
rs883222	0.82[ASN][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:10 , 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	chr7:137237200-137246000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:137237200-137248600	Weak transcription	Osteobl	bone
6	chr7:137237200-137250400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:137237200-137252800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:137237200-137264000	Weak transcription	NH-A	brain
9	chr7:137237400-137248600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:137237400-137277800	Weak transcription	Aorta	Aorta

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