Variant report

Variant	rs10401247
Chromosome Location	chr19:52051784-52051785
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:14 , 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	chr19:52033987..52035489-chr19:52050209..52051813,2	K562	blood:
7	chr19:51992545..51994911-chr19:52050306..52053220,2	K562	blood:
8	chr19:52050819..52052546-chr19:52117300..52119490,2	K562	blood:
9	chr19:51829638..51832503-chr19:52050785..52052514,2	K562	blood:
10	chr19:52048446..52051862-chr19:52097608..52099669,3	K562	blood:
11	chr19:52024031..52026502-chr19:52050663..52052535,2	K562	blood:
12	chr19:52008381..52014764-chr19:52049250..52052653,6	K562	blood:
13	chr19:52050415..52052731-chr19:52062366..52064409,2	K562	blood:
14	chr19:52049091..52052644-chr19:52057964..52061166,6	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000269580	Chromatin interaction
ENSG00000268957	Chromatin interaction
ENSG00000269130	Chromatin interaction
ENSG00000269388	Chromatin interaction
ENSG00000105492	Chromatin interaction
ENSG00000268839	Chromatin interaction
ENSG00000167765	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10426927	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1840826	0.87[ASN][1000 genomes]
rs3752133	0.83[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	chr19:52049000-52052000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr19:52049800-52053000	Enhancers	Stomach Mucosa	stomach
5	chr19:52050000-52052200	Enhancers	GM12878-XiMat	blood
6	chr19:52050200-52052200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:52050400-52051800	Enhancers	Fetal Intestine Large	intestine
8	chr19:52050400-52053400	Flanking Active TSS	K562	blood
9	chr19:52050400-52053600	Enhancers	Primary T cells from cord blood	blood
10	chr19:52050600-52054000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:52050600-52054400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
12	chr19:52050800-52052400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr19:52050800-52052800	Enhancers	Spleen	Spleen
14	chr19:52051000-52052200	Weak transcription	Fetal Thymus	thymus
15	chr19:52051000-52052800	Enhancers	HUVEC	blood vessel
16	chr19:52051000-52053400	Enhancers	Primary hematopoietic stem cells	blood
17	chr19:52051400-52051800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr19:52051400-52052000	Enhancers	Primary B cells from cord blood	blood
19	chr19:52051600-52053000	Enhancers	Primary Natural Killer cells fromperipheralblood	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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