Variant report

Variant	nsv565042
Chromosome Location	chr14:70951234-71011734
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:154)
CpG islands
(count:183)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:154 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:70981442-70981522	K562	blood:	n/a	n/a
2	BATF	chr14:71006169-71006342	GM12878	blood:	n/a	n/a
3	BATF	chr14:71006186-71006343	GM12878	blood:	n/a	n/a
4	BATF	chr14:70981214-70981668	GM12878	blood:	n/a	chr14:70981349-70981359 chr14:70981345-70981355
5	CEBPB	chr14:70996119-70996207	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:71006561-71006857	HepG2	liver:	n/a	chr14:71006671-71006682
7	CTCF	chr14:71004120-71004270	GM12866	blood:	n/a	n/a
8	CTCF	chr14:70963680-70963830	GM12872	blood:	n/a	n/a
9	CTCF	chr14:71010953-71010985	GM10248	blood:	n/a	n/a
10	CTCF	chr14:70988740-70988890	RPTEC	kidney:	n/a	n/a
11	CTCF	chr14:70983281-70983355	GM13977	blood:	n/a	n/a
12	CTCF	chr14:70963688-70963749	A549	lung:	n/a	n/a
13	CTCF	chr14:70983300-70983450	GM12864	blood:	n/a	n/a
14	CTCF	chr14:70963720-70963870	HEK293	kidney:	n/a	n/a
15	CTCF	chr14:70964260-70964410	GM12873	blood:	n/a	n/a
16	CTCF	chr14:71005748-71005843	ProgFib	skin:	n/a	n/a
17	CTCF	chr14:70988820-70988970	GM12873	blood:	n/a	n/a
18	CTCF	chr14:70955010-70955030	HepG2	liver:	n/a	n/a
19	CTCF	chr14:70963700-70963780	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr14:71003437-71003550	LNCaP	prostate:	n/a	n/a
21	CTCF	chr14:70982740-70982890	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr14:70954960-70955110	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:70982640-70982790	MCF-7	breast:	n/a	n/a
24	CTCF	chr14:70964600-70964750	GM12873	blood:	n/a	n/a
25	CTCF	chr14:70954970-70955010	Fibrobl	skin:	n/a	n/a
26	CTCF	chr14:70983240-70983390	GM12867	blood:	n/a	n/a
27	CTCF	chr14:70982720-70982870	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:71001208-71001223	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr14:70963719-70963763	ProgFib	skin:	n/a	n/a
30	CTCF	chr14:70988800-70988950	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr14:70954929-70955100	MCF-7	breast:	n/a	n/a
32	CTCF	chr14:70983190-70983439	GM12878	blood:	n/a	n/a
33	CTCF	chr14:70954980-70955130	MCF-7	breast:	n/a	n/a
34	CTCF	chr14:70983180-70983330	GM12878	blood:	n/a	n/a
35	CTCF	chr14:70988520-70988670	GM12865	blood:	n/a	n/a
36	CTCF	chr14:70982696-70982748	ProgFib	skin:	n/a	n/a
37	CTCF	chr14:70954934-70955132	MCF-7	breast:	n/a	n/a
38	CTCF	chr14:70983263-70983359	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr14:70963540-70963690	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:71010898-71010940	GM10248	blood:	n/a	n/a
41	CTCF	chr14:70983248-70983367	GM10248	blood:	n/a	n/a
42	CTCF	chr14:70954960-70955110	WERI-Rb-1	eye:	n/a	n/a
43	CTCF	chr14:70990056-70990088	Lung_OC	lung:	n/a	n/a
44	CTCF	chr14:70982720-70982870	NHEK	skin:	n/a	n/a
45	CTCF	chr14:70983254-70983382	GM12878	blood:	n/a	n/a
46	CTCF	chr14:70983220-70983370	GM06990	blood:	n/a	n/a
47	CTCF	chr14:70982700-70982850	GM12873	blood:	n/a	n/a
48	CUX1	chr14:71007971-71007988	K562	blood:	n/a	n/a
49	E2F4	chr14:70990396-70990596	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr14:71010532-71010617	MCF10A-Er-Src	breast:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:70993085-70993135	HRPEpiC	eye:	n/a
2	chr14:70989954-70990004	AG09309	skin:	n/a
3	chr14:70989954-70990004	PrEC	prostate:	n/a
4	chr14:70993438-70993488	PrEC	prostate:	n/a
5	chr14:70989954-70990004	AG04450	lung:	fetal
6	chr14:70993085-70993135	SK-N-SH	brain:	n/a
7	chr14:70993438-70993488	Hela-S3	cervix:	n/a
8	chr14:70993085-70993135	GM12891	blood:	n/a
9	chr14:70993438-70993488	HepG2	liver:	n/a
10	chr14:70993438-70993488	Jurkat	blood:	n/a
11	chr14:70993085-70993135	HAEpiC	amniotic membrane:	n/a
12	chr14:70993085-70993135	H1-hESC	embryonic stem cell:	embryo
13	chr14:70993085-70993135	ECC-1	luminal epithelium:	n/a
14	chr14:70993438-70993488	HL-60	blood:	n/a
15	chr14:70993085-70993135	HMEC	breast:	n/a
16	chr14:70989954-70990004	NB4	blood:	n/a
17	chr14:70993438-70993488	NHBE	bronchial:	n/a
18	chr14:70989954-70990004	RPTEC	kidney:	n/a
19	chr14:70989954-70990004	Jurkat	blood:	n/a
20	chr14:70993085-70993135	HCPEpiC	choroid plexus:	n/a
21	chr14:70989954-70990004	NHDF-neo	bronchial:	n/a
22	chr14:70989954-70990004	AG09319	gingival:	n/a
23	chr14:70993438-70993488	MCF10A-Er-Src	breast:	n/a
24	chr14:70989954-70990004	MCF-7	breast:	n/a
25	chr14:70993438-70993488	IMR90	lung:	fetal
26	chr14:70993438-70993488	NHDF-neo	bronchial:	n/a
27	chr14:70993085-70993135	SKMC	muscle:	n/a
28	chr14:70993085-70993135	T-47D	breast:	n/a
29	chr14:70993438-70993488	GM12878	blood:	n/a
30	chr14:70989954-70990004	AoSMC	blood vessel:	n/a
31	chr14:70993438-70993488	GM12891	blood:	n/a
32	chr14:70989954-70990004	GM06990	blood:	n/a
33	chr14:70989954-70990004	HCM	heart:	n/a
34	chr14:70993085-70993135	BE2_C	brain:	n/a
35	chr14:70989954-70990004	ovcar-3	ovarian:	n/a
36	chr14:70993085-70993135	HepG2	liver:	n/a
37	chr14:70989954-70990004	GM12878	blood:	n/a
38	chr14:70993438-70993488	RPTEC	kidney:	n/a
39	chr14:70993438-70993488	CMK	blood:	n/a
40	chr14:70993438-70993488	BE2_C	brain:	n/a
41	chr14:70989954-70990004	AG10803	skin:	n/a
42	chr14:70993438-70993488	SAEC	small airway:	n/a
43	chr14:70989954-70990004	K562	blood:	n/a
44	chr14:70989954-70990004	U87	brain:	n/a
45	chr14:70993085-70993135	MCF-7	breast:	n/a
46	chr14:70993085-70993135	A549	lung:	n/a
47	chr14:70993438-70993488	SK-N-SH	brain:	n/a
48	chr14:70989954-70990004	CMK	blood:	n/a
49	chr14:70993085-70993135	PANC-1	pancreas:	n/a
50	chr14:70989954-70990004	SK-N-SH	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70983745..70986575-chr14:70987708..70990108,2	MCF-7	breast:
2	chr14:70983745..70986575-chr14:70987708..70990108,2	MCF-7	breast:
3	chr14:70866335..70868798-chr14:70990397..70993089,2	MCF-7	breast:
4	chr14:70952948..70955035-chr22:17637701..17639534,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAM20	TF binding region
RNU6-659P	TF binding region
ADAM20P1	TF binding region
ADAM20	CpG island
RNU6-659P	CpG island
ADAM20P1	CpG island

Extended variants
information (count: 2384 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2384 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7493545	chr14:70951234-70951235	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570669997	chr14:70951258-70951259	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147264922	chr14:70951266-70951267	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs532689976	chr14:70951269-70951270	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs550125087	chr14:70951272-70951273	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs192885862	chr14:70951308-70951309	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs183848613	chr14:70951358-70951359	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554412327	chr14:70951366-70951367	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs566649949	chr14:70951387-70951388	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs534011399	chr14:70951438-70951439	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs370847885	chr14:70951445-70951446	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs139260125	chr14:70951447-70951448	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs188400270	chr14:70951500-70951501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs72719711	chr14:70951507-70951508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73293935	chr14:70951533-70951534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575596623	chr14:70951550-70951551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543098012	chr14:70951552-70951553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561263229	chr14:70951553-70951554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs193215895	chr14:70951623-70951624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368465910	chr14:70951638-70951639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74746985	chr14:70951667-70951668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1959483	chr14:70951688-70951689	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs57865831	chr14:70951707-70951708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76269288	chr14:70951780-70951781	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs532625290	chr14:70951806-70951807	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs563529536	chr14:70951847-70951848	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs541586812	chr14:70951900-70951901	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs554182703	chr14:70951934-70951935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562499449	chr14:70951986-70951987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8018933	chr14:70951992-70951993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184982991	chr14:70952010-70952011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548252662	chr14:70952030-70952031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530452157	chr14:70952078-70952079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566473416	chr14:70952097-70952098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8019100	chr14:70952098-70952099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs552364614	chr14:70952103-70952104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60046418	chr14:70952160-70952161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540132515	chr14:70952166-70952167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570664512	chr14:70952197-70952198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538135115	chr14:70952236-70952237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557980691	chr14:70952244-70952245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72719712	chr14:70952273-70952274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs58286274	chr14:70952329-70952330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373366958	chr14:70952355-70952356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77354800	chr14:70952371-70952372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs117527391	chr14:70952379-70952380	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs572969394	chr14:70952397-70952398	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs561931965	chr14:70952432-70952433	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540336995	chr14:70952462-70952463	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs565087501	chr14:70952503-70952504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	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
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
Epilepsy	20502679	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70910600-70955600	Weak transcription	Left Ventricle	heart
2	chr14:70948000-70955000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:70949000-70956000	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr14:70949200-70956400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr14:70949400-70956200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:70951200-70956200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr14:70951400-70955000	Weak transcription	Aorta	Aorta
8	chr14:70951400-70957600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:70953800-70954200	Active TSS	Fetal Heart	heart
10	chr14:70954200-70956000	Weak transcription	Liver	Liver
11	chr14:70954400-70957400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr14:70954800-70955000	Enhancers	HSMMtube	muscle
13	chr14:70954800-70956400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:70954800-70958600	ZNF genes & repeats	Lung	lung
15	chr14:70954800-70958800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr14:70955000-70955200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
17	chr14:70955000-70955600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:70955000-70957800	Weak transcription	HSMMtube	muscle
19	chr14:70955000-70958600	ZNF genes & repeats	Aorta	Aorta
20	chr14:70955000-70959200	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr14:70955200-70955400	Weak transcription	Right Ventricle	heart
22	chr14:70955200-70955600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:70955400-70955600	ZNF genes & repeats	Right Ventricle	heart
24	chr14:70955400-70955800	Weak transcription	Brain Hippocampus Middle	brain
25	chr14:70955400-70959200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr14:70955600-70955800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr14:70955600-70956000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
28	chr14:70955600-70956600	ZNF genes & repeats	Left Ventricle	heart
29	chr14:70955600-70957200	Strong transcription	Stomach Smooth Muscle	stomach
30	chr14:70955600-70965600	Weak transcription	Right Ventricle	heart
31	chr14:70955800-70956000	ZNF genes & repeats	Brain Hippocampus Middle	brain
32	chr14:70955800-70956200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
33	chr14:70955800-70956800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:70955800-70957000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
35	chr14:70955800-70958600	ZNF genes & repeats	Ovary	ovary
36	chr14:70955800-70958800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:70955800-70959200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
38	chr14:70956000-70956400	Strong transcription	Liver	Liver
39	chr14:70956000-70956600	Strong transcription	Brain Cingulate Gyrus	brain
40	chr14:70956000-70957000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr14:70956000-70958600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
42	chr14:70956000-70959200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
43	chr14:70956200-70956400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:70956200-70956600	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr14:70956200-70956600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
46	chr14:70956200-70957000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:70956200-70957400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr14:70956200-70958600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
49	chr14:70956200-70958600	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr14:70956400-70956600	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle

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