Variant report

Variant	rs56237642
Chromosome Location	chr16:81848400-81848401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81846967..81849391-chr16:81855617..81857822,2	K562	blood:
2	chr16:81831968..81834919-chr16:81846611..81849339,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55687320	0.94[AFR][1000 genomes]
rs57156891	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9806965	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1067307	chr16:81832031-81851736	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81819800-81848800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:81832800-81848600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:81838600-81851400	Weak transcription	Right Atrium	heart
4	chr16:81840600-81848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:81843200-81850400	Weak transcription	Fetal Thymus	thymus
6	chr16:81843200-81858200	Weak transcription	Fetal Intestine Small	intestine
7	chr16:81843400-81848800	Weak transcription	Placenta	Placenta
8	chr16:81843400-81850600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr16:81843600-81850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr16:81844800-81848800	Weak transcription	Spleen	Spleen
11	chr16:81844800-81851400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr16:81845000-81848800	Enhancers	Primary B cells from peripheral blood	blood
13	chr16:81845000-81850600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr16:81845000-81850600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr16:81846600-81850600	Enhancers	Primary B cells from cord blood	blood
16	chr16:81847200-81849400	Flanking Active TSS	GM12878-XiMat	blood
17	chr16:81847200-81850600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr16:81847200-81852000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:81847400-81848600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr16:81847400-81849400	Enhancers	Primary hematopoietic stem cells	blood
21	chr16:81847400-81850800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:81847800-81848800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr16:81847800-81850200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr16:81847800-81850400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:81848000-81849000	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr16:81848200-81848600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr16:81848400-81848600	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr16:81848400-81849000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr16:81848400-81849400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr16:81848400-81849400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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