Variant report

Variant	rs60237642
Chromosome Location	chr8:19960598-19960599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17092136	1.00[AMR][1000 genomes]
rs28621370	1.00[EUR][1000 genomes]
rs58835058	1.00[EUR][1000 genomes]
rs6983442	1.00[AMR][1000 genomes]
rs7009166	1.00[AMR][1000 genomes]
rs7009177	1.00[AMR][1000 genomes]
rs7010744	1.00[AMR][1000 genomes]
rs73669730	1.00[EUR][1000 genomes]
rs73669739	1.00[AMR][1000 genomes]
rs73669753	1.00[EUR][1000 genomes]
rs73669754	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033931	chr8:19954428-19979303	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv525841	chr8:19957089-19970889	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19952000-19961800	Weak transcription	Left Ventricle	heart
2	chr8:19956800-19963400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:19957200-19962800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:19957200-19963200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:19959000-19960600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:19960400-19960600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:19960400-19960600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr8:19960400-19961400	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:19960400-19961600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:19960400-19961800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:19960400-19962000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:19960400-19962200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr8:19960400-19962200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr8:19960400-19962200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:19960400-19962200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:19960400-19962400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:19960400-19963000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:19960400-19964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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