Variant report

Variant	rs73264197
Chromosome Location	chr5:119846010-119846011
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	chr5:119797915..119802369-chr5:119845575..119850142,8	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17425658	0.86[EUR][1000 genomes]
rs17425812	0.86[EUR][1000 genomes]
rs73262114	1.00[AMR][1000 genomes]
rs73262115	1.00[AMR][1000 genomes]
rs73262120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73264192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73266189	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised 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	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119836400-119852400	Weak transcription	HSMM	muscle
2	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
3	chr5:119842600-119852400	Weak transcription	Aorta	Aorta
4	chr5:119843400-119848000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:119843800-119846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:119844000-119846600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:119844000-119847800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr5:119844200-119846600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr5:119844200-119847400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:119844600-119847400	Enhancers	K562	blood
12	chr5:119844800-119846200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:119845000-119852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr5:119845200-119846800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr5:119845200-119846800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr5:119845200-119846800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr5:119845200-119847600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr5:119845200-119847600	Weak transcription	Fetal Lung	lung
19	chr5:119845400-119846400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:119845400-119846800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr5:119845400-119847000	Enhancers	NHDF-Ad	bronchial
22	chr5:119845400-119847600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:119845600-119846400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:119845600-119846800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:119845800-119847000	Enhancers	Osteobl	bone
26	chr5:119846000-119846400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr5:119846000-119847000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr5:119846000-119847200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:119846000-119847200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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