Variant report

Variant	nsv976833
Chromosome Location	chr14:45464242-45470996
allele	n/a
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	EP300	chr14:45465069-45465493	A549	lung:	n/a	chr14:45465173-45465182 chr14:45465174-45465183
2	FOS	chr14:45465115-45465195	MCF10A-Er-Src	breast:	n/a	chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
3	FOSL2	chr14:45464909-45465461	MCF-7	breast:	n/a	chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
4	FOSL2	chr14:45464844-45465568	A549	lung:	n/a	chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
5	FOXA1	chr14:45464375-45464683	HepG2	liver:	n/a	n/a
6	FOXA1	chr14:45464972-45465532	A549	lung:	n/a	chr14:45465320-45465332
7	FOXA1	chr14:45464317-45464737	HepG2	liver:	n/a	n/a
8	FOXA1	chr14:45464353-45464692	T-47D	breast:	n/a	n/a
9	FOXA1	chr14:45464430-45464785	HepG2	liver:	n/a	n/a
10	FOXA2	chr14:45464342-45464742	A549	lung:	n/a	n/a
11	FOXA2	chr14:45465110-45465540	A549	lung:	n/a	chr14:45465320-45465332
12	FOXA2	chr14:45464150-45464923	HepG2	liver:	n/a	n/a
13	FOXA2	chr14:45464415-45464716	HepG2	liver:	n/a	n/a
14	GATA3	chr14:45465036-45465532	A549	lung:	n/a	chr14:45465231-45465247 chr14:45465233-45465245 chr14:45465233-45465240 chr14:45465175-45465184
15	GATA3	chr14:45465009-45465586	MCF-7	breast:	n/a	chr14:45465231-45465247 chr14:45465233-45465245 chr14:45465233-45465240 chr14:45465175-45465184
16	GATA3	chr14:45464861-45465701	A549	lung:	n/a	chr14:45465231-45465247 chr14:45465233-45465245 chr14:45465233-45465240 chr14:45465175-45465184
17	HDAC2	chr14:45464901-45465512	MCF-7	breast:	n/a	chr14:45465355-45465374 chr14:45465323-45465332
18	IRF1	chr14:45468945-45469037	K562	blood:	n/a	n/a
19	JUN	chr14:45464225-45464278	HepG2	liver:	n/a	n/a
20	JUND	chr14:45465050-45465327	HepG2	liver:	n/a	chr14:45465172-45465183 chr14:45465174-45465183 chr14:45465174-45465181 chr14:45465173-45465182 chr14:45465174-45465182
21	MAFK	chr14:45470695-45470896	HepG2	liver:	n/a	n/a
22	NR2F2	chr14:45464935-45465570	MCF-7	breast:	n/a	n/a
23	POLR2A	chr14:45467711-45467779	MCF-7	breast:	n/a	n/a
24	POLR2A	chr14:45465118-45465125	MCF-7	breast:	n/a	n/a
25	STAT3	chr14:45464270-45464357	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr14:45464898-45465729	A549	lung:	n/a	n/a
27	ZNF217	chr14:45465123-45465439	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45461379..45464439-chr14:45465878..45468676,3	MCF-7	breast:
2	chr14:45461379..45464439-chr14:45465878..45468676,3	MCF-7	breast:
3	chr14:45429271..45433674-chr14:45463003..45467131,6	MCF-7	breast:
4	chr14:45429455..45434456-chr14:45457577..45465953,9	MCF-7	breast:
5	chr14:45430922..45432847-chr14:45466321..45468139,2	MCF-7	breast:

Variant related genes	Relation type
FAM179B	TF binding region
ENSG00000179454	chromatin interactions
ENSG00000198718	chromatin interactions

Extended variants
information (count: 246 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:246 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77075890	chr14:45464278-45464279	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs188293048	chr14:45464284-45464285	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs565192315	chr14:45464291-45464292	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs533455011	chr14:45464294-45464295	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs146091184	chr14:45464305-45464306	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369991326	chr14:45464381-45464382	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs115680270	chr14:45464386-45464387	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs191616281	chr14:45464399-45464400	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs57796490	chr14:45464483-45464484	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs539548946	chr14:45464536-45464537	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373892729	chr14:45464642-45464643	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs530360605	chr14:45464709-45464710	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs548449705	chr14:45464734-45464735	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs547200612	chr14:45464795-45464796	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs77644097	chr14:45464865-45464866	Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370598945	chr14:45464939-45464940	Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs141945491	chr14:45464957-45464958	Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs551859912	chr14:45465010-45465011	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs146292944	chr14:45465064-45465065	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs146715781	chr14:45465066-45465067	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs200832771	chr14:45465067-45465068	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs201797482	chr14:45465079-45465080	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs375234033	chr14:45465102-45465103	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367831139	chr14:45465123-45465124	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs79897651	chr14:45465128-45465129	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs182360945	chr14:45465174-45465175	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568028240	chr14:45465284-45465285	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530892004	chr14:45465299-45465300	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs370251875	chr14:45465309-45465310	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs186656953	chr14:45465340-45465341	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs191364863	chr14:45465355-45465356	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs185792560	chr14:45465364-45465365	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs577306887	chr14:45465371-45465372	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544676942	chr14:45465453-45465454	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs562769947	chr14:45465457-45465458	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs374047777	chr14:45465472-45465473	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs574462279	chr14:45465591-45465592	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs190368938	chr14:45465604-45465605	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs566936478	chr14:45465651-45465652	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs193164968	chr14:45465728-45465729	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527976830	chr14:45465770-45465771	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs534730820	chr14:45465794-45465795	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs564690153	chr14:45465796-45465797	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373183839	chr14:45465802-45465803	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531337635	chr14:45465819-45465820	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139535864	chr14:45465895-45465896	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567981856	chr14:45465973-45465974	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs535398177	chr14:45466010-45466011	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs566936479	chr14:45466013-45466014	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377503786	chr14:45466056-45466057	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45434600-45465000	Weak transcription	Fetal Thymus	thymus
2	chr14:45436200-45486600	Weak transcription	Gastric	stomach
3	chr14:45437000-45465000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:45437000-45465800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:45437000-45473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:45437000-45496000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr14:45437000-45507400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr14:45437000-45514600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:45437200-45466000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:45437200-45469400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:45438000-45501800	Weak transcription	Fetal Kidney	kidney
12	chr14:45438200-45465400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:45439200-45464400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:45440000-45465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:45440400-45465800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr14:45441400-45469400	Weak transcription	Primary T cells from cord blood	blood
17	chr14:45449200-45466000	Weak transcription	Fetal Intestine Large	intestine
18	chr14:45449400-45482000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:45449800-45465800	Weak transcription	Fetal Stomach	stomach
20	chr14:45450000-45501800	Weak transcription	Lung	lung
21	chr14:45451400-45466000	Weak transcription	Aorta	Aorta
22	chr14:45452000-45482200	Weak transcription	NHDF-Ad	bronchial
23	chr14:45452400-45464600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:45452400-45465200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:45452400-45465200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr14:45452600-45482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:45452800-45465200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:45452800-45477800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr14:45453200-45466000	Weak transcription	Thymus	Thymus
30	chr14:45456200-45465200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:45458000-45465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:45458000-45465800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:45458000-45473200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:45458200-45465800	Weak transcription	Ovary	ovary
35	chr14:45458200-45469400	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:45458200-45469600	Weak transcription	Right Ventricle	heart
37	chr14:45458200-45469600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:45458200-45470000	Weak transcription	Left Ventricle	heart
39	chr14:45458200-45475200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:45458200-45478000	Weak transcription	Small Intestine	intestine
41	chr14:45458200-45487400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr14:45458200-45487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr14:45458200-45501400	Weak transcription	Colon Smooth Muscle	Colon
44	chr14:45458200-45507400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:45458400-45465200	Weak transcription	Fetal Lung	lung
46	chr14:45458400-45468200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:45458400-45481600	Weak transcription	Adipose Nuclei	Adipose
48	chr14:45458600-45465200	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr14:45458800-45465000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr14:45458800-45465400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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