Variant report

Variant	rs16982810
Chromosome Location	chr19:52052236-52052237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52049987..52053285-chr19:52087444..52089013,3	K562	blood:
2	chr19:51970702..51973310-chr19:52051081..52054707,4	K562	blood:
3	chr19:52008070..52014830-chr19:52047100..52054399,12	K562	blood:
4	chr19:51981958..51984243-chr19:52050825..52052568,2	K562	blood:
5	chr19:52050848..52053096-chr19:52143769..52145532,2	K562	blood:
6	chr19:51992545..51994911-chr19:52050306..52053220,2	K562	blood:
7	chr19:52050819..52052546-chr19:52117300..52119490,2	K562	blood:
8	chr19:51829638..51832503-chr19:52050785..52052514,2	K562	blood:
9	chr19:52024031..52026502-chr19:52050663..52052535,2	K562	blood:
10	chr19:52008381..52014764-chr19:52049250..52052653,6	K562	blood:
11	chr19:52050415..52052731-chr19:52062366..52064409,2	K562	blood:
12	chr19:52049091..52052644-chr19:52057964..52061166,6	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000268839	Chromatin interaction
ENSG00000268957	Chromatin interaction
ENSG00000269130	Chromatin interaction
ENSG00000269580	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12972180	0.82[JPT][hapmap]
rs12972472	0.82[JPT][hapmap]
rs1466302	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs1551159	0.81[ASN][1000 genomes]
rs17660319	0.81[CEU][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17660341	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17716726	0.89[ASN][1000 genomes]
rs2168638	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2168639	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs73050804	0.89[ASN][1000 genomes]
rs73050815	0.81[ASN][1000 genomes]
rs73067339	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73067342	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs73067352	0.89[ASN][1000 genomes]
rs73067368	0.89[ASN][1000 genomes]
rs73067369	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr19:52047200-52052400	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:52048800-52058000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr19:52049800-52053000	Enhancers	Stomach Mucosa	stomach
4	chr19:52050400-52053400	Flanking Active TSS	K562	blood
5	chr19:52050400-52053600	Enhancers	Primary T cells from cord blood	blood
6	chr19:52050600-52054000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:52050600-52054400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
8	chr19:52050800-52052400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr19:52050800-52052800	Enhancers	Spleen	Spleen
10	chr19:52051000-52052800	Enhancers	HUVEC	blood vessel
11	chr19:52051000-52053400	Enhancers	Primary hematopoietic stem cells	blood
12	chr19:52051600-52053000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:52051800-52053200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr19:52052000-52053600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr19:52052200-52052600	Enhancers	Fetal Thymus	thymus
16	chr19:52052200-52052800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:52052200-52053000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:52052200-52053600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr19:52052200-52053600	Flanking Active TSS	GM12878-XiMat	blood

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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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