Variant report

Variant	rs2612647
Chromosome Location	chr4:175484393-175484394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10520283	1.00[AMR][1000 genomes]
rs11943385	1.00[AMR][1000 genomes]
rs1365619	1.00[AMR][1000 genomes]
rs1365620	1.00[AMR][1000 genomes]
rs17052155	1.00[AMR][1000 genomes]
rs17052163	1.00[AMR][1000 genomes]
rs17060520	1.00[AMR][1000 genomes]
rs1965052	1.00[AMR][1000 genomes]
rs2555662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2555663	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2612645	0.85[AFR][1000 genomes]
rs2612646	0.85[AFR][1000 genomes]
rs2612652	1.00[AMR][1000 genomes]
rs3101252	1.00[AMR][1000 genomes]
rs3909711	1.00[AMR][1000 genomes]
rs45602831	1.00[AMR][1000 genomes]
rs7664204	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv881376	chr4:175466101-175513812	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1018390	chr4:175475505-175969742	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv880800	chr4:175476462-175513812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv881268	chr4:175476462-175513812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv881481	chr4:175476462-175515345	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv881192	chr4:175476462-175523073	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv880379	chr4:175479889-175513812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv881565	chr4:175479889-175515345	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv881297	chr4:175479889-175515940	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv880684	chr4:175479889-175523073	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv2763412	chr4:175482525-175503770	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175466600-175484600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:175479800-175484600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:175480800-175485000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr4:175480800-175485400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:175481000-175485000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:175481000-175485400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:175481600-175484600	Weak transcription	Stomach Mucosa	stomach
8	chr4:175482800-175485200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:175483000-175484600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:175483200-175485600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr4:175483200-175485600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr4:175483400-175484600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr4:175484200-175484800	Enhancers	Fetal Lung	lung
14	chr4:175484200-175485400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr4:175484200-175485600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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