Variant report

Variant	nsv564980
Chromosome Location	chr14:70020319-70028547
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	ATF1	chr14:70019989-70020328	K562	blood:	n/a	n/a
2	CEBPB	chr14:70019927-70020361	MCF-7	breast:	n/a	n/a
3	CEBPB	chr14:70019942-70020321	A549	lung:	n/a	n/a
4	CEBPB	chr14:70019916-70020363	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr14:70021340-70021490	SK-N-SH_RA	brain:	n/a	n/a
6	CTCF	chr14:70022060-70022210	MCF-7	breast:	n/a	n/a
7	CTCF	chr14:70022166-70022239	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr14:70023440-70023590	BE2_C	brain:	n/a	n/a
9	CTCF	chr14:70024140-70024290	AG09309	skin:	n/a	n/a
10	EP300	chr14:70019952-70020352	Hela-S3	cervix:	n/a	n/a
11	FOS	chr14:70019961-70020323	MCF10A-Er-Src	breast:	n/a	n/a
12	GTF2F1	chr14:70019912-70020472	Hela-S3	cervix:	n/a	n/a
13	HEY1	chr14:70020420-70020659	K562	blood:	n/a	n/a
14	IRF1	chr14:70020712-70020718	K562	blood:	n/a	n/a
15	JUND	chr14:70019922-70020359	Hela-S3	cervix:	n/a	n/a
16	MAFF	chr14:70027668-70027833	HepG2	liver:	n/a	n/a
17	MAFF	chr14:70027716-70027768	K562	blood:	n/a	n/a
18	MAFK	chr14:70027645-70027815	HepG2	liver:	n/a	n/a
19	MAFK	chr14:70027587-70027911	HepG2	liver:	n/a	n/a
20	MAFK	chr14:70027620-70027858	IMR90	lung:	n/a	n/a
21	POLR2A	chr14:70026244-70026784	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr14:70020320-70020775	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:70020407-70020912	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:70020668-70020833	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:70020559-70020754	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr14:70026179-70026773	H1-neurons	neurons:	n/a	n/a
27	RCOR1	chr14:70022258-70022318	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr14:70020006-70020411	K562	blood:	n/a	n/a
29	RCOR1	chr14:70019969-70020383	Hela-S3	cervix:	n/a	n/a
30	REST	chr14:70026062-70026832	H1-neurons	neurons:	n/a	n/a
31	REST	chr14:70025836-70027070	H1-neurons	neurons:	n/a	chr14:70026927-70026940
32	RFX5	chr14:70019974-70020361	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr14:70019937-70020321	Hela-S3	cervix:	n/a	n/a
34	STAT3	chr14:70020031-70020369	MCF10A-Er-Src	breast:	n/a	chr14:70020205-70020214 chr14:70020204-70020213 chr14:70020203-70020214
35	STAT3	chr14:70020011-70020385	MCF10A-Er-Src	breast:	n/a	chr14:70020205-70020214 chr14:70020204-70020213 chr14:70020203-70020214
36	STAT3	chr14:70019993-70020343	Hela-S3	cervix:	n/a	chr14:70020205-70020214 chr14:70020204-70020213 chr14:70020203-70020214
37	STAT3	chr14:70020038-70020367	MCF10A-Er-Src	breast:	n/a	chr14:70020205-70020214 chr14:70020204-70020213 chr14:70020203-70020214
38	TAF1	chr14:70026143-70026782	H1-neurons	neurons:	n/a	n/a
39	TCF7L2	chr14:70019988-70020605	Hela-S3	cervix:	n/a	n/a
40	USF2	chr14:70019934-70020364	Hela-S3	cervix:	n/a	chr14:70020102-70020113
41	ZKSCAN1	chr14:70020001-70020333	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:70017252..70019408-chr14:70020667..70022465,2	MCF-7	breast:
2	chr14:70013357..70015397-chr14:70020516..70022458,2	K562	blood:
3	chr14:70019966..70021611-chr14:70026583..70029344,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C14orf162-2	chr14:70027736-70028187	NONHSAT037530

Variant related genes	Relation type
ENSG00000244237	TF binding region
ENSG00000244237	chromatin interactions

Extended variants
information (count: 332 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17107078	chr14:70020319-70020320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181284360	chr14:70020331-70020332	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568025671	chr14:70020361-70020362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs79691725	chr14:70020466-70020467	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs534100651	chr14:70020504-70020505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs529071266	chr14:70020531-70020532	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs550689624	chr14:70020545-70020546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577395642	chr14:70020556-70020557	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs118058045	chr14:70020602-70020603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547619795	chr14:70020635-70020636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562684304	chr14:70020660-70020661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566022215	chr14:70020661-70020662	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371486553	chr14:70020669-70020670	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs548966491	chr14:70020690-70020691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs199683255	chr14:70020691-70020692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186078126	chr14:70020754-70020755	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs145138950	chr14:70020771-70020772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs114609377	chr14:70020781-70020782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564550308	chr14:70020785-70020786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546611883	chr14:70020794-70020795	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144665600	chr14:70020824-70020825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146709628	chr14:70020856-70020857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs550683269	chr14:70020943-70020944	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183312632	chr14:70020944-70020945	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34519327	chr14:70020955-70020956	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs568979776	chr14:70020960-70020961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34124235	chr14:70020987-70020988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373405429	chr14:70020988-70020989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs74061850	chr14:70020989-70020990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs71446394	chr14:70020997-70020998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570036373	chr14:70021001-70021002	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs548226034	chr14:70021036-70021037	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs547029465	chr14:70021084-70021085	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs563110391	chr14:70021110-70021111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192374759	chr14:70021141-70021142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372624435	chr14:70021149-70021150	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182441162	chr14:70021178-70021179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187914860	chr14:70021187-70021188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192543305	chr14:70021189-70021190	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538059746	chr14:70021201-70021202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117500218	chr14:70021210-70021211	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs182708491	chr14:70021241-70021242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200616825	chr14:70021255-70021256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369489843	chr14:70021290-70021291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs397809766	chr14:70021291-70021292	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs374668502	chr14:70021293-70021294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs187341057	chr14:70021294-70021295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541787527	chr14:70021336-70021337	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560521951	chr14:70021343-70021344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11851273	chr14:70021348-70021349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70015000-70026200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:70015200-70026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:70016600-70026000	Weak transcription	Fetal Brain Female	brain
4	chr14:70017400-70020600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:70019200-70021400	Enhancers	Hela-S3	cervix
6	chr14:70019400-70020400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:70019800-70020400	Enhancers	Placenta	Placenta
8	chr14:70020000-70020400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:70020000-70020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:70020200-70020400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:70020400-70020600	Enhancers	H9 Cell Line	embryonic stem cell
12	chr14:70020400-70025800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70020600-70025800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:70021200-70021800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr14:70021400-70021800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:70021400-70021800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:70021600-70021800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:70022600-70022800	Enhancers	Brain Germinal Matrix	brain
19	chr14:70022800-70026200	Weak transcription	Brain Germinal Matrix	brain
20	chr14:70025400-70029800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr14:70025800-70026200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70025800-70026200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr14:70025800-70028000	Enhancers	Fetal Brain Male	brain
24	chr14:70025800-70028200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:70025800-70028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:70026000-70026200	Enhancers	Fetal Brain Female	brain
27	chr14:70026000-70026600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr14:70026000-70026800	Bivalent Enhancer	Fetal Stomach	stomach
29	chr14:70026000-70027000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr14:70026000-70027000	Enhancers	Brain Angular Gyrus	brain
31	chr14:70026000-70027000	Enhancers	Brain Cingulate Gyrus	brain
32	chr14:70026000-70028200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:70026200-70026400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr14:70026200-70026400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:70026200-70026400	Bivalent Enhancer	Placenta	Placenta
36	chr14:70026200-70026600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:70026200-70026600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:70026200-70026600	Flanking Active TSS	Fetal Brain Female	brain
39	chr14:70026200-70026600	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr14:70026200-70026600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr14:70026200-70026800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:70026200-70026800	Enhancers	HMEC	breast
43	chr14:70026200-70027000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr14:70026200-70027000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:70026200-70027000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:70026200-70027000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr14:70026200-70027000	Enhancers	Brain Substantia Nigra	brain
48	chr14:70026200-70027200	Enhancers	Brain Anterior Caudate	brain
49	chr14:70026200-70027200	Enhancers	Brain Hippocampus Middle	brain
50	chr14:70026200-70027200	Enhancers	Brain Inferior Temporal Lobe	brain

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