Variant report

Variant	rs56276635
Chromosome Location	chr19:41197997-41197998
allele	A/G
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	chr19:41197905-41198188	A549	lung:	n/a	n/a
2	POLR2A	chr19:41197887-41198481	A549	lung:	n/a	n/a
3	POLR2A	chr19:41195198-41198305	A549	lung:	n/a	n/a
4	POLR2A	chr19:41195136-41198654	K562	blood:	n/a	n/a
5	HMGN3	chr19:41197939-41198184	K562	blood:	n/a	n/a
6	FOSL2	chr19:41197545-41198376	A549	lung:	n/a	n/a
7	EP300	chr19:41196347-41198058	A549	lung:	n/a	chr19:41197094-41197103 chr19:41197044-41197053 chr19:41196937-41196953 chr19:41197085-41197094
8	BCL3	chr19:41195718-41198312	A549	lung:	n/a	chr19:41196105-41196114 chr19:41196935-41196948 chr19:41197090-41197099 chr19:41196936-41196949 chr19:41196618-41196631 chr19:41197093-41197102 chr19:41196323-41196332 chr19:41196565-41196574
9	POLR2A	chr19:41196243-41198188	SK-N-MC	brain:	n/a	n/a
10	JUN	chr19:41195293-41198506	K562	blood:	n/a	chr19:41195851-41195862

No.	Distal block	Cell Line	Cell type
1	chr19:41193561..41199772-chr19:41221208..41225709,11	K562	blood:
2	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
3	chr19:41185908..41188551-chr19:41197234..41199915,2	K562	blood:
4	chr19:41195631..41198231-chr19:41282908..41284681,3	K562	blood:
5	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
6	chr19:41191702..41194594-chr19:41196563..41198200,2	MCF-7	breast:
7	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
8	chr19:41197857..41200529-chr19:41314192..41315970,2	K562	blood:
9	chr19:41194805..41199772-chr19:41221674..41225965,11	K562	blood:
10	chr19:41195052..41198475-chr19:41206836..41210574,5	K562	blood:
11	chr19:41195568..41198287-chr19:41219071..41220657,2	K562	blood:
12	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
13	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
14	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
15	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:
16	chr19:41195613..41198968-chr19:41260956..41263433,3	MCF-7	breast:

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000077312	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000167578	Chromatin interaction
ENSG00000123815	Chromatin interaction
ENSG00000171570	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000105245	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs59786414	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1067017	chr19:41185992-41231251	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41196600-41198600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr19:41196800-41198600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr19:41197000-41198000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr19:41197000-41198600	Enhancers	Fetal Brain Male	brain
5	chr19:41197000-41205200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:41197000-41207600	Weak transcription	Fetal Kidney	kidney
7	chr19:41197000-41208000	Weak transcription	Small Intestine	intestine
8	chr19:41197200-41198000	Weak transcription	Primary T cells from cord blood	blood
9	chr19:41197200-41198000	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:41197200-41198000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:41197200-41198000	Enhancers	Brain Angular Gyrus	brain
12	chr19:41197200-41198000	Enhancers	Fetal Thymus	thymus
13	chr19:41197200-41198000	Enhancers	Ovary	ovary
14	chr19:41197200-41198200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:41197200-41198200	Flanking Active TSS	Brain Germinal Matrix	brain
16	chr19:41197200-41198200	Enhancers	Brain Hippocampus Middle	brain
17	chr19:41197200-41198400	Enhancers	NH-A	brain
18	chr19:41197200-41198600	Enhancers	HSMMtube	muscle
19	chr19:41197200-41199200	Weak transcription	Brain Substantia Nigra	brain
20	chr19:41197200-41200200	Weak transcription	Aorta	Aorta
21	chr19:41197200-41200400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:41197200-41207400	Weak transcription	Stomach Mucosa	stomach
23	chr19:41197200-41210000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:41197200-41210600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr19:41197200-41220200	Weak transcription	Fetal Heart	heart
26	chr19:41197200-41220600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr19:41197400-41198000	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr19:41197400-41198000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr19:41197400-41198000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr19:41197400-41198000	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr19:41197400-41198000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr19:41197400-41198000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:41197400-41198000	Enhancers	Adipose Nuclei	Adipose
34	chr19:41197400-41198000	Enhancers	Brain Cingulate Gyrus	brain
35	chr19:41197400-41198000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr19:41197400-41198000	Genic enhancers	NHLF	lung
37	chr19:41197400-41198200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr19:41197400-41198200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:41197400-41198200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr19:41197400-41198200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:41197400-41198200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr19:41197400-41198200	Weak transcription	Right Ventricle	heart
43	chr19:41197400-41198400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:41197400-41198400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr19:41197400-41198600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr19:41197400-41198800	Weak transcription	Brain Anterior Caudate	brain
47	chr19:41197400-41199000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr19:41197400-41199200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr19:41197400-41199200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:41197400-41199400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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