Variant report

Variant	rs262016
Chromosome Location	chr5:177983668-177983669
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs262011	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262014	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262015	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs262040	1.00[EUR][1000 genomes]
rs262070	1.00[EUR][1000 genomes]
rs57663317	1.00[ASN][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177974400-177986200	Weak transcription	Right Atrium	heart
2	chr5:177981600-177985200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:177982200-177990200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:177982800-177984000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:177982800-177985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:177983000-177984400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:177983200-177984200	Weak transcription	Right Ventricle	heart
8	chr5:177983200-177984600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:177983200-177987800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:177983200-177988000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:177983200-177991000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:177983400-177983800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:177983400-177983800	Weak transcription	K562	blood
14	chr5:177983400-177987200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr5:177983400-177987400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:177983400-177988200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:177983600-177984000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:177983600-177984000	Weak transcription	Fetal Heart	heart
19	chr5:177983600-177987600	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
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