Variant report

Variant	rs10474681
Chromosome Location	chr5:12238425-12238426
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10036397	1.00[AMR][1000 genomes]
rs10040729	1.00[AMR][1000 genomes]
rs10071250	1.00[AMR][1000 genomes]
rs10072813	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10077260	0.82[AFR][1000 genomes]
rs10474680	1.00[AMR][1000 genomes]
rs13356171	1.00[AMR][1000 genomes]
rs13362570	1.00[AMR][1000 genomes]
rs28481924	1.00[AMR][1000 genomes]
rs6886150	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv597155	chr5:12022698-12251916	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1016098	chr5:12042741-12310988	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1025096	chr5:12049731-12778382	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv537660	chr5:12049731-12778382	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv470989	chr5:12110214-12288541	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv880440	chr5:12128980-12288541	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv880704	chr5:12132401-12338203	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv881603	chr5:12153033-12288541	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv880364	chr5:12153033-12330841	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1024189	chr5:12162849-12258950	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv537663	chr5:12162849-12258950	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1030593	chr5:12183469-12250607	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1023330	chr5:12217960-12285735	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1031406	chr5:12231297-12305842	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12236600-12239400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:12237200-12239000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr5:12237600-12239000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr5:12237600-12239200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:12237600-12239200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr5:12237800-12238600	Enhancers	Gastric	stomach
7	chr5:12238000-12239200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
8	chr5:12238000-12239200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr5:12238000-12239200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
10	chr5:12238000-12239200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr5:12238200-12238600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
12	chr5:12238400-12238600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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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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