Variant report

Variant	nsv1026420
Chromosome Location	chr7:144902627-145020612
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	chr7:144984214-144984301	K562	blood:	n/a	n/a
2	ATF1	chr7:145010261-145010271	K562	blood:	n/a	n/a
3	ATF2	chr7:144921921-144922223	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:145000545-145000812	HepG2	liver:	n/a	chr7:145000662-145000673 chr7:145000661-145000672
5	CEBPB	chr7:145000512-145000807	A549	lung:	n/a	chr7:145000662-145000673 chr7:145000661-145000672
6	CEBPB	chr7:144913721-144914023	HepG2	liver:	n/a	chr7:144913849-144913866
7	CEBPB	chr7:145010326-145010533	HepG2	liver:	n/a	chr7:145010455-145010468 chr7:145010457-145010466 chr7:145010456-145010467
8	CEBPB	chr7:145017193-145017452	A549	lung:	n/a	n/a
9	CTCF	chr7:144959920-144960070	NB4	blood:	n/a	n/a
10	CTCF	chr7:144962668-144962750	GM20000	blood:	n/a	n/a
11	CTCF	chr7:144996845-144996896	GM10248	blood:	n/a	n/a
12	CTCF	chr7:145017800-145017950	NB4	blood:	n/a	n/a
13	CTCF	chr7:144965540-144965690	K562	blood:	n/a	n/a
14	CTCF	chr7:144973850-144973940	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr7:144966618-144966741	MCF-7	breast:	n/a	n/a
16	CTCF	chr7:144966655-144966696	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:144980122-144980171	GM13976	blood:	n/a	n/a
18	CTCF	chr7:144966698-144966700	MCF-7	breast:	n/a	n/a
19	CTCF	chr7:144986504-144986524	GM20000	blood:	n/a	n/a
20	CTCF	chr7:144966692-144966713	MCF-7	breast:	n/a	n/a
21	CTCF	chr7:144977254-144977396	K562	blood:	n/a	n/a
22	E2F4	chr7:144914050-144914294	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr7:144987830-144987955	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr7:144928438-144928638	MCF10A-Er-Src	breast:	n/a	n/a
25	E2F4	chr7:144998425-144998632	MCF10A-Er-Src	breast:	n/a	n/a
26	E2F4	chr7:144916757-144916974	MCF10A-Er-Src	breast:	n/a	n/a
27	EBF1	chr7:145010880-145010912	GM12878	blood:	n/a	n/a
28	EP300	chr7:144926232-144926256	GM12878	blood:	n/a	n/a
29	FOS	chr7:144979232-144979430	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr7:144916573-144917257	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr7:144913643-144914349	MCF10A-Er-Src	breast:	n/a	chr7:144913681-144913688 chr7:144914159-144914167 chr7:144914160-144914167 chr7:144914158-144914167 chr7:144914159-144914168
32	FOS	chr7:144970474-144970539	MCF10A-Er-Src	breast:	n/a	chr7:144970509-144970518 chr7:144970510-144970517 chr7:144970509-144970519 chr7:144970510-144970519
33	FOS	chr7:144909147-144909562	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr7:144913896-144914334	MCF10A-Er-Src	breast:	n/a	chr7:144914159-144914167 chr7:144914160-144914167 chr7:144914158-144914167 chr7:144914159-144914168
35	FOS	chr7:144990918-144991153	MCF10A-Er-Src	breast:	n/a	chr7:144991002-144991012 chr7:144991002-144991011 chr7:144991002-144991012 chr7:144991001-144991013 chr7:144991002-144991012 chr7:144991002-144991012
36	FOS	chr7:144913617-144914394	MCF10A-Er-Src	breast:	n/a	chr7:144913681-144913688 chr7:144914159-144914167 chr7:144914160-144914167 chr7:144914158-144914167 chr7:144914159-144914168
37	FOS	chr7:144966671-144966762	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr7:144966565-144966765	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr7:144909065-144909552	MCF10A-Er-Src	breast:	n/a	n/a
40	FOS	chr7:144909036-144909624	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr7:144916407-144917298	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr7:144909037-144909599	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr7:144916510-144917301	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr7:144991044-144991045	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr7:144979202-144979403	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr7:144916530-144917215	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr7:144966713-144966759	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr7:144979287-144979366	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr7:144913643-144914359	MCF10A-Er-Src	breast:	n/a	chr7:144913681-144913688 chr7:144914159-144914167 chr7:144914160-144914167 chr7:144914158-144914167 chr7:144914159-144914168
50	FOSL2	chr7:144966590-144966822	MCF-7	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:144967622-144967672	HRPEpiC	eye:	n/a
2	chr7:144966808-144966858	ovcar-3	ovarian:	n/a
3	chr7:144967622-144967672	GM12892	blood:	n/a
4	chr7:144967622-144967672	HPAEpiC	pulmonary alveolar:	n/a
5	chr7:144967622-144967672	ECC-1	luminal epithelium:	n/a
6	chr7:144966808-144966858	AG04449	skin:	fetal
7	chr7:144966808-144966858	GM12878	blood:	n/a
8	chr7:144966808-144966858	HRE	kidney:	n/a
9	chr7:144967622-144967672	HCT-116	colon:	n/a
10	chr7:144966808-144966858	SK-N-SH	brain:	n/a
11	chr7:144967622-144967672	LNCaP	prostate:	n/a
12	chr7:144966808-144966858	AG10803	skin:	n/a
13	chr7:144967622-144967672	IMR90	lung:	fetal
14	chr7:144967622-144967672	HEEpiC	esophagus:	n/a
15	chr7:144967385-144967435	T-47D	breast:	n/a
16	chr7:144966808-144966858	HL-60	blood:	n/a
17	chr7:144966808-144966858	CMK	blood:	n/a
18	chr7:144967622-144967672	AoSMC	blood vessel:	n/a
19	chr7:144967385-144967435	PANC-1	pancreas:	n/a
20	chr7:144967385-144967435	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:144966808-144966858	PANC-1	pancreas:	n/a
22	chr7:144967622-144967672	HRE	kidney:	n/a
23	chr7:144967622-144967672	PrEC	prostate:	n/a
24	chr7:144966808-144966858	HepG2	liver:	n/a
25	chr7:144967622-144967672	H1-hESC	embryonic stem cell:	embryo
26	chr7:144966808-144966858	Hepatocyte	liver:	n/a
27	chr7:144967622-144967672	A549	lung:	n/a
28	chr7:144967385-144967435	ProgFib	skin:	n/a
29	chr7:144967385-144967435	HCF	heart:	n/a
30	chr7:144967385-144967435	ECC-1	luminal epithelium:	n/a
31	chr7:144966808-144966858	IMR90	lung:	fetal
32	chr7:144966808-144966858	AoSMC	blood vessel:	n/a
33	chr7:144967385-144967435	SK-N-MC	brain:	n/a
34	chr7:144967385-144967435	K562	blood:	n/a
35	chr7:144967622-144967672	SK-N-SH	brain:	n/a
36	chr7:144966808-144966858	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:144966808-144966858	AG09319	gingival:	n/a
38	chr7:144967622-144967672	ovcar-3	ovarian:	n/a
39	chr7:144967385-144967435	H1-hESC	embryonic stem cell:	embryo
40	chr7:144967385-144967435	IMR90	lung:	fetal
41	chr7:144967385-144967435	Hela-S3	cervix:	n/a
42	chr7:144966808-144966858	HCPEpiC	choroid plexus:	n/a
43	chr7:144967622-144967672	PANC-1	pancreas:	n/a
44	chr7:144967622-144967672	NHBE	bronchial:	n/a
45	chr7:144967385-144967435	NT2-D1	testis:	n/a
46	chr7:144967622-144967672	GM12878	blood:	n/a
47	chr7:144967385-144967435	AoSMC	blood vessel:	n/a
48	chr7:144966808-144966858	A549	lung:	n/a
49	chr7:144967622-144967672	SKMC	muscle:	n/a
50	chr7:144967622-144967672	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:144964574..144966523-chr7:144993925..144996685,2	K562	blood:
2	chr7:144939623..144941287-chr7:144948474..144950817,2	MCF-7	breast:
3	chr7:144939623..144941287-chr7:144948474..144950817,2	MCF-7	breast:
4	chr7:144964574..144966523-chr7:144993925..144996685,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TPK1-3	chr7:145003908-145004318	NONHSAT123942
2	lnc-TPK1-3	chr7:145009135-145009395	NONHSAT123942

Variant related genes	Relation type
ENSG00000226592	TF binding region
ENSG00000226592	CpG island

Extended variants
information (count: 1034 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553321769	chr7:144902631-144902632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550115245	chr7:144902665-144902666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139908500	chr7:144902733-144902734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535896138	chr7:144902762-144902763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553845134	chr7:144902768-144902769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6979139	chr7:144906820-144906821	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs370289501	chr7:144906831-144906832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs7791708	chr7:144906844-144906845	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs529896880	chr7:144906904-144906905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547911940	chr7:144906926-144906927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566202483	chr7:144906934-144906935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111889988	chr7:144906942-144906943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534904256	chr7:144906953-144906954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144373655	chr7:144906994-144906995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376982336	chr7:144906999-144907000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73466057	chr7:144907000-144907001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs186440814	chr7:144907073-144907074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117864475	chr7:144907110-144907111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190415772	chr7:144907186-144907187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183804778	chr7:144907196-144907197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555120329	chr7:144907202-144907203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148800955	chr7:144907224-144907225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377411295	chr7:144907258-144907259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35792527	chr7:144907268-144907269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143756149	chr7:144907415-144907416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186216383	chr7:144907456-144907457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34593043	chr7:144907477-144907478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374217470	chr7:144907478-144907479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377407209	chr7:144907483-144907484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34898592	chr7:144907502-144907503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191508874	chr7:144907534-144907535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111894700	chr7:144907536-144907537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562781252	chr7:144907556-144907557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373311958	chr7:144907609-144907610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186832042	chr7:144907648-144907649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191592459	chr7:144907673-144907674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527339233	chr7:144907675-144907676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183364659	chr7:144907691-144907692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146365329	chr7:144907717-144907718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539206511	chr7:144907781-144907782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557396884	chr7:144907852-144907853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569504870	chr7:144907861-144907862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528497347	chr7:144907903-144907904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573467494	chr7:144907926-144907927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536657900	chr7:144907932-144907933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188022367	chr7:144907933-144907934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573376076	chr7:144907955-144907956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546634357	chr7:144908006-144908007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568756988	chr7:144908035-144908036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540775287	chr7:144908037-144908038	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144902400-144902800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr7:144902400-144902800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:144906800-144907000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr7:144907000-144908000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:144908000-144910000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:144908000-144910000	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr7:144909000-144910200	Enhancers	Adipose Nuclei	Adipose
8	chr7:144909000-144910400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:144909200-144909400	Enhancers	Brain Cingulate Gyrus	brain
10	chr7:144909400-144910000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:144909400-144910200	Enhancers	Brain Angular Gyrus	brain
12	chr7:144914000-144914400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:144916400-144917000	Enhancers	Adipose Nuclei	Adipose
14	chr7:144916600-144916800	Enhancers	Right Atrium	heart
15	chr7:144921000-144923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:144921200-144922400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:144921600-144922000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr7:144921600-144922800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:144946200-144946600	Enhancers	Fetal Muscle Leg	muscle
20	chr7:144948600-144949400	Enhancers	Fetal Lung	lung
21	chr7:144949400-144950000	Weak transcription	Fetal Lung	lung
22	chr7:144950000-144950200	Enhancers	Fetal Lung	lung
23	chr7:144963200-144967000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:144967000-144967200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:144989000-144992000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:144989400-144992000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:144990000-144991200	Enhancers	Fetal Stomach	stomach
28	chr7:144990000-144991400	Enhancers	Fetal Lung	lung
29	chr7:144990200-144991200	Enhancers	Fetal Muscle Leg	muscle
30	chr7:144990400-144991200	Enhancers	Adipose Nuclei	Adipose
31	chr7:144991400-144998800	Weak transcription	Fetal Lung	lung
32	chr7:145001400-145001600	Enhancers	Fetal Lung	lung
33	chr7:145009600-145011600	Enhancers	Fetal Lung	lung
34	chr7:145010000-145011000	Enhancers	Adipose Nuclei	Adipose
35	chr7:145010600-145011000	Enhancers	Fetal Brain Male	brain
36	chr7:145010600-145011200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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