Variant report

Variant	rs2701047
Chromosome Location	chr7:107660785-107660786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107658272..107660950-chr7:107675303..107677050,2	K562	blood:
2	chr7:107651131..107653871-chr7:107658840..107660954,2	K562	blood:
3	chr7:107652101..107653928-chr7:107660478..107662899,2	K562	blood:
4	chr7:107659970..107661712-chr7:107662565..107665447,2	K562	blood:
5	chr7:107643970..107645780-chr7:107658191..107661118,2	K562	blood:
6	chr7:107659946..107662417-chr7:107670610..107672903,3	K562	blood:
7	chr7:107654298..107658539-chr7:107660315..107664139,4	K562	blood:
8	chr7:107585394..107587277-chr7:107660379..107663179,2	K562	blood:
9	chr7:107659450..107661325-chr7:107675303..107677646,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000216085	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10242313	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1613001	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1613597	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1614188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1616041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1624720	0.86[ASN][1000 genomes]
rs1627354	0.86[ASN][1000 genomes]
rs1636942	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636943	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636944	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1636945	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636946	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636947	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636948	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636949	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636950	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636951	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636954	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636955	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1636956	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732140	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732146	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732147	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732149	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732151	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732153	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732154	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732159	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732160	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732161	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732162	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1732163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2528693	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2528694	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2528696	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2528697	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2528698	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2701045	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2701046	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2701048	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73424716	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[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	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831088	chr7:107497100-107693680	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active 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

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107653600-107662400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:107655200-107670000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:107655400-107666600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:107656400-107663200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:107657400-107667200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:107657600-107667200	Weak transcription	NHDF-Ad	bronchial
7	chr7:107657800-107663400	Weak transcription	Stomach Mucosa	stomach
8	chr7:107658000-107663000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:107658200-107663000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr7:107658400-107663600	Weak transcription	Osteobl	bone
11	chr7:107658600-107663200	Weak transcription	NHLF	lung
12	chr7:107658600-107666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:107658800-107662600	Weak transcription	A549	lung
14	chr7:107658800-107666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:107658800-107671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:107659800-107664000	Enhancers	HUVEC	blood vessel
17	chr7:107660000-107661800	Enhancers	K562	blood
18	chr7:107660000-107662400	Weak transcription	Fetal Stomach	stomach

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