Variant report

Variant	rs73615076
Chromosome Location	chr19:56169283-56169284
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:56169187-56169470	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:56169011-56170029	SK-N-MC	brain:	n/a	n/a
3	WRNIP1	chr19:56166793-56170333	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:56164851-56170437	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr19:56168222-56169398	PANC-1	pancreas:	n/a	n/a
6	POLR2A	chr19:56164956-56169503	K562	blood:	n/a	n/a
7	POLR2A	chr19:56167955-56169676	GM12878	blood:	n/a	n/a
8	MXI1	chr19:56164856-56169392	SK-N-SH	brain:	n/a	chr19:56165279-56165294 chr19:56166760-56166769 chr19:56165281-56165296 chr19:56166762-56166771
9	POLR2A	chr19:56169219-56169287	K562	blood:	n/a	n/a
10	POLR2A	chr19:56169029-56169641	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:56169127-56169602	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:54974496..54976652-chr19:56167995..56170937,2	MCF-7	breast:
2	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
3	chr19:56167793..56169420-chr19:56762867..56764897,2	K562	blood:
4	chr19:56165703..56169980-chr19:56194386..56196896,5	MCF-7	breast:
5	chr19:55997140..55998839-chr19:56168520..56170217,2	MCF-7	breast:
6	chr19:56168627..56170843-chr19:56657131..56658872,2	MCF-7	breast:
7	chr19:56110428..56112493-chr19:56168408..56170811,2	MCF-7	breast:
8	chr19:54962486..54964755-chr19:56168867..56170948,2	MCF-7	breast:

Variant related genes	Relation type
U2AF2	TF binding region
ENSG00000063245	Chromatin interaction
ENSG00000167615	Chromatin interaction
ENSG00000171443	Chromatin interaction
ENSG00000167685	Chromatin interaction
ENSG00000179943	Chromatin interaction
ENSG00000267523	Chromatin interaction
ENSG00000182909	Chromatin interaction
ENSG00000090971	Chromatin interaction
ENSG00000211571	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16986466	1.00[AMR][1000 genomes]
rs57696232	1.00[AMR][1000 genomes]
rs61736527	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912487	chr19:55977909-56215184	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv912494	chr19:56026072-56215184	Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv912498	chr19:56041848-56215184	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv912500	chr19:56078722-56175515	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
5	nsv912501	chr19:56093365-56215184	Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428026	chr19:56130849-56423514	Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	82 gene(s)	inside rSNPs	diseases
7	nsv912504	chr19:56149077-56170415	Flanking Active TSS Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv833882	chr19:56158633-56326564	Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1061024	chr19:56167101-56217359	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56166800-56169400	Flanking Active TSS	Adipose Nuclei	Adipose
2	chr19:56167000-56169400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr19:56167000-56169400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr19:56167000-56169400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr19:56167000-56169400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr19:56167000-56169400	Flanking Active TSS	Rectal Smooth Muscle	rectum
7	chr19:56167000-56169400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr19:56167000-56169400	Transcr. at gene 5' and 3'	K562	blood
9	chr19:56167000-56170200	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr19:56167200-56169400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr19:56167200-56169400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr19:56167200-56169400	Flanking Active TSS	HUVEC	blood vessel
13	chr19:56167200-56169400	Flanking Active TSS	NH-A	brain
14	chr19:56167200-56169400	Flanking Active TSS	Osteobl	bone
15	chr19:56167200-56169600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:56167200-56169600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:56167200-56169600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:56167200-56169600	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr19:56167200-56169600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:56167200-56170200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
21	chr19:56167400-56169400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:56167600-56169400	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
23	chr19:56167600-56169600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
24	chr19:56167600-56170400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr19:56167600-56174200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr19:56167800-56169400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr19:56167800-56169400	Flanking Active TSS	HMEC	breast
28	chr19:56167800-56169600	Transcr. at gene 5' and 3'	Hela-S3	cervix
29	chr19:56167800-56170200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr19:56167800-56170200	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr19:56167800-56170200	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr19:56167800-56171400	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr19:56167800-56171400	Genic enhancers	Fetal Muscle Trunk	muscle
34	chr19:56168000-56170000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
35	chr19:56168000-56170400	Enhancers	Liver	Liver
36	chr19:56168200-56170200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
37	chr19:56168200-56170400	Genic enhancers	Fetal Muscle Leg	muscle
38	chr19:56168200-56170800	Genic enhancers	Placenta Amnion	Placenta Amnion
39	chr19:56168200-56171400	Genic enhancers	Placenta	Placenta
40	chr19:56168200-56171800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:56168200-56172400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:56168200-56172800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:56168400-56169400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr19:56168400-56169600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:56168400-56169600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:56168400-56169600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
47	chr19:56168400-56170200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr19:56168600-56169400	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
49	chr19:56168600-56169600	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr19:56168600-56169600	Enhancers	HSMMtube	muscle

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