Variant report

Variant	rs60693875
Chromosome Location	chr5:119848313-119848314
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119799024..119803543-chr5:119846360..119850142,7	K562	blood:
2	chr5:119847102..119848643-chr5:119877942..119880653,2	K562	blood:
3	chr5:119797915..119802369-chr5:119845575..119850142,8	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10062669	0.87[EUR][1000 genomes]
rs10078298	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146687	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146688	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146690	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146693	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17146714	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146715	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146717	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2405952	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2604162	0.93[EUR][1000 genomes]
rs2691095	1.00[EUR][1000 genomes]
rs2691096	1.00[EUR][1000 genomes]
rs28702378	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56008932	0.93[EUR][1000 genomes]
rs56053702	0.93[EUR][1000 genomes]
rs60492181	0.93[EUR][1000 genomes]
rs6881030	0.93[EUR][1000 genomes]
rs6887667	1.00[EUR][1000 genomes]
rs6893168	1.00[EUR][1000 genomes]
rs73783454	0.93[EUR][1000 genomes]
rs73783455	0.93[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:36 , 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	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119845000-119852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:119846200-119849000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:119846400-119852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:119846800-119848400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:119846800-119848600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:119846800-119849200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr5:119847000-119848600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:119847000-119850400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr5:119847000-119851400	Weak transcription	NHDF-Ad	bronchial
14	chr5:119847000-119852200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:119847000-119852200	Weak transcription	Osteobl	bone
16	chr5:119847200-119848400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:119847400-119848600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:119847400-119849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:119847400-119849400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:119847600-119849200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:119847600-119849200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:119847800-119848800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:119847800-119849200	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:119847800-119849200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:119847800-119849200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:119848000-119848800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:119848000-119851400	Active TSS	K562	blood
28	chr5:119848000-119852200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:119848000-119852200	Weak transcription	NH-A	brain
30	chr5:119848200-119848400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr5:119848200-119849200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr5:119848200-119849200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:119848200-119849400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:119848200-119850200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:119848200-119852200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:119848200-119852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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