Variant report

Variant	rs548769188
Chromosome Location	chr14:56045795-56045796
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	MXI1	chr14:56045617-56048670	SK-N-SH	brain:	n/a	n/a
2	JUND	chr14:56045641-56047156	SK-N-SH	brain:	n/a	chr14:56045750-56045758 chr14:56046912-56046921
3	TBP	chr14:56045747-56045935	HepG2	liver:	n/a	n/a
4	CHD2	chr14:56045736-56046095	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:56045364-56046204	SK-N-MC	brain:	n/a	n/a
6	BACH1	chr14:56045735-56046148	H1-hESC	embryonic stem cell:	n/a	n/a
7	CHD1	chr14:56045664-56048621	IMR90	lung:	n/a	chr14:56046914-56046924 chr14:56046909-56046919 chr14:56047666-56047676
8	POLR2A	chr14:56045654-56046050	PANC-1	pancreas:	n/a	n/a
9	WRNIP1	chr14:56045703-56045888	GM12878	blood:	n/a	n/a
10	POLR2A	chr14:56045779-56048486	Hela-S3	cervix:	n/a	n/a
11	MXI1	chr14:56045354-56048230	IMR90	lung:	n/a	n/a
12	MAZ	chr14:56045518-56048442	IMR90	lung:	n/a	chr14:56047371-56047381
13	FOXA1	chr14:56045775-56046044	T-47D	breast:	n/a	n/a
14	ARID3A	chr14:56045690-56045890	K562	blood:	n/a	n/a
15	POLR2A	chr14:56045212-56047473	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr14:56045670-56048518	MCF10A-Er-Src	breast:	n/a	n/a
17	SIN3AK20	chr14:56045563-56047252	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56022620..56026445-chr14:56044953..56047966,3	MCF-7	breast:
2	chr14:55905450..55907568-chr14:56045550..56047292,2	MCF-7	breast:

Variant related genes	Relation type
KTN1	TF binding region
ENSG00000126777	Chromatin interaction
ENSG00000182521	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	esv3375073	chr14:56045749-56048597	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56024400-56045800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:56026200-56045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:56034200-56046000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:56035600-56045800	Weak transcription	Aorta	Aorta
5	chr14:56039000-56045800	Weak transcription	Primary B cells from cord blood	blood
6	chr14:56039600-56045800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:56041200-56045800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:56041800-56045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:56042000-56045800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:56042000-56045800	Weak transcription	Gastric	stomach
11	chr14:56042000-56045800	Weak transcription	Lung	lung
12	chr14:56042400-56045800	Weak transcription	Esophagus	oesophagus
13	chr14:56042800-56045800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:56044600-56046000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:56045000-56046200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:56045200-56045800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:56045200-56045800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:56045200-56045800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:56045200-56045800	Flanking Active TSS	Fetal Heart	heart
20	chr14:56045200-56045800	Flanking Active TSS	Fetal Lung	lung
21	chr14:56045200-56045800	Enhancers	NH-A	brain
22	chr14:56045200-56046000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:56045200-56046000	Flanking Active TSS	HSMMtube	muscle
24	chr14:56045200-56048000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:56045200-56048200	Active TSS	NHDF-Ad	bronchial
26	chr14:56045200-56048400	Active TSS	Ovary	ovary
27	chr14:56045200-56048400	Active TSS	A549	lung
28	chr14:56045200-56050000	Active TSS	GM12878-XiMat	blood
29	chr14:56045400-56045800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:56045400-56045800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:56045400-56045800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:56045400-56045800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:56045400-56045800	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr14:56045400-56045800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:56045400-56045800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr14:56045400-56045800	Enhancers	Fetal Muscle Leg	muscle
37	chr14:56045400-56045800	Enhancers	Placenta	Placenta
38	chr14:56045400-56045800	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:56045400-56046000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr14:56045400-56046000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:56045400-56046000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr14:56045400-56046000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr14:56045400-56046000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr14:56045400-56046000	Flanking Active TSS	K562	blood
45	chr14:56045400-56046000	Flanking Active TSS	NHEK	skin
46	chr14:56045400-56046200	Active TSS	Stomach Smooth Muscle	stomach
47	chr14:56045400-56046400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr14:56045400-56046400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:56045400-56047200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:56045400-56047800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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