Variant report

Variant	nsv508453
Chromosome Location	chr7:50963780-51030439
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	chr7:51028711-51028926	K562	blood:	n/a	n/a
2	BACH1	chr7:51030431-51030900	K562	blood:	n/a	chr7:51030783-51030797
3	BHLHE40	chr7:50982323-50982502	K562	blood:	n/a	n/a
4	BHLHE40	chr7:51030251-51031082	K562	blood:	n/a	n/a
5	BHLHE40	chr7:51024257-51024457	K562	blood:	n/a	n/a
6	BHLHE40	chr7:51030298-51030436	GM12878	blood:	n/a	n/a
7	CCNT2	chr7:51030156-51030985	K562	blood:	n/a	n/a
8	CCNT2	chr7:50982164-50982558	K562	blood:	n/a	chr7:50982407-50982427
9	CCNT2	chr7:50982843-50982986	K562	blood:	n/a	n/a
10	CEBPB	chr7:51024290-51024598	K562	blood:	n/a	chr7:51024441-51024450 chr7:51024439-51024450
11	CEBPB	chr7:51002017-51002169	K562	blood:	n/a	n/a
12	CEBPB	chr7:51021104-51021164	K562	blood:	n/a	n/a
13	CEBPB	chr7:51024231-51024611	ECC-1	luminal epithelium:	n/a	chr7:51024441-51024450 chr7:51024439-51024450
14	CEBPB	chr7:51024272-51024611	IMR90	lung:	n/a	chr7:51024441-51024450 chr7:51024439-51024450
15	CEBPB	chr7:50976734-50976791	K562	blood:	n/a	n/a
16	CEBPB	chr7:51024299-51024528	A549	lung:	n/a	chr7:51024441-51024450 chr7:51024439-51024450
17	CEBPB	chr7:51024281-51024617	HepG2	liver:	n/a	chr7:51024441-51024450 chr7:51024439-51024450
18	CEBPB	chr7:51024367-51024484	Hela-S3	cervix:	n/a	chr7:51024441-51024450 chr7:51024439-51024450
19	CEBPB	chr7:50987955-50988377	MCF-7	breast:	n/a	chr7:50988157-50988170
20	CEBPB	chr7:50983836-50984108	Hela-S3	cervix:	n/a	n/a
21	CHD2	chr7:51021637-51021837	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr7:51022520-51022670	WI-38	lung:	n/a	n/a
23	CTCF	chr7:51021298-51021350	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:51021301-51021399	Fibrobl	skin:	n/a	n/a
25	CTCF	chr7:51021287-51021377	K562	blood:	n/a	n/a
26	CTCF	chr7:51021260-51021410	HEK293	kidney:	n/a	n/a
27	CTCF	chr7:51021328-51021384	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:51005088-51005145	Lung_OC	lung:	n/a	n/a
29	CTCF	chr7:51021280-51021430	GM12873	blood:	n/a	n/a
30	CTCF	chr7:51021240-51021390	HRE	kidney:	n/a	n/a
31	CTCF	chr7:51014920-51015070	GM12871	blood:	n/a	n/a
32	CTCF	chr7:51021260-51021410	HCFaa	heart:	n/a	n/a
33	CTCF	chr7:51021040-51021190	MCF-7	breast:	n/a	chr7:51021062-51021071
34	CTCF	chr7:51021200-51021350	HCPEpiC	choroid plexus:	n/a	n/a
35	CTCF	chr7:51006840-51006990	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr7:50999338-50999448	LNCaP	prostate:	n/a	n/a
37	CTCF	chr7:51021294-51021394	MCF-7	breast:	n/a	n/a
38	CTCF	chr7:51023899-51023966	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:51021260-51021410	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr7:50985680-50985830	HepG2	liver:	n/a	n/a
41	CTCF	chr7:51021293-51021381	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr7:51021180-51021330	HPAF	blood vessel:	n/a	n/a
43	CUX1	chr7:50980768-50980897	GM12878	blood:	n/a	n/a
44	CUX1	chr7:51002275-51002362	GM12878	blood:	n/a	n/a
45	CUX1	chr7:51030204-51030205	K562	blood:	n/a	n/a
46	CUX1	chr7:50978102-50978105	K562	blood:	n/a	n/a
47	E2F4	chr7:51030146-51030385	MCF10A-Er-Src	breast:	n/a	n/a
48	E2F4	chr7:51018136-51018336	MCF10A-Er-Src	breast:	n/a	n/a
49	E2F4	chr7:50991877-50991936	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr7:51021091-51021347	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:51020833..51022713-chr7:51029451..51032212,2	MCF-7	breast:
2	chr7:51025823..51027586-chr7:51027677..51030856,3	K562	blood:
3	chr7:50859580..50861266-chr7:50980891..50982813,2	K562	blood:
4	chr7:51017269..51019264-chr7:51023287..51025522,2	MCF-7	breast:
5	chr7:51025823..51027586-chr7:51027677..51030856,3	K562	blood:
6	chr7:51017269..51019264-chr7:51023287..51025522,2	MCF-7	breast:
7	chr7:51028938..51031506-chr7:51033680..51035202,2	MCF-7	breast:
8	chr7:51018656..51020597-chr7:51035869..51037756,2	K562	blood:
9	chr7:50979021..50981681-chr7:50988406..50989972,2	K562	blood:
10	chr17:59893952..59894805-chr7:50993100..50993946,2	MCF-7	breast:
11	chr7:50979021..50981681-chr7:50988406..50989972,2	K562	blood:
12	chr7:51020833..51022713-chr7:51029451..51032212,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201133	TF binding region
ENSG00000106070	chromatin interactions

Extended variants
information (count: 1978 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1978 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566427908	chr7:50963814-50963815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75125640	chr7:50963850-50963851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12718987	chr7:50963957-50963958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs538073033	chr7:50963988-50963989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150539307	chr7:50965815-50965816	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs188901878	chr7:50965816-50965817	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs6976357	chr7:50965837-50965838	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192498761	chr7:50966037-50966038	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs201497125	chr7:50966040-50966041	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs561885989	chr7:50966045-50966046	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs77380693	chr7:50966046-50966047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs184722842	chr7:50966060-50966061	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs139711609	chr7:50966069-50966070	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139492518	chr7:50966096-50966097	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs149672379	chr7:50966113-50966114	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144424856	chr7:50966183-50966184	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569915788	chr7:50966198-50966199	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537879335	chr7:50966213-50966214	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558178780	chr7:50966232-50966233	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578171874	chr7:50966242-50966243	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544530110	chr7:50966264-50966265	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534245305	chr7:50966265-50966266	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117292359	chr7:50966275-50966276	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556913613	chr7:50966276-50966277	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574118194	chr7:50966299-50966300	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543192729	chr7:50966304-50966305	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111763539	chr7:50966334-50966335	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77813333	chr7:50966337-50966338	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576672753	chr7:50966361-50966362	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188987045	chr7:50966388-50966389	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77486664	chr7:50966394-50966395	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2329559	chr7:50966400-50966401	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs547058748	chr7:50966435-50966436	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139439618	chr7:50966439-50966440	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs57791694	chr7:50966452-50966453	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs75766174	chr7:50966472-50966473	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147955725	chr7:50966484-50966485	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569896954	chr7:50966532-50966533	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191893213	chr7:50966561-50966562	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs13221436	chr7:50966569-50966570	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141793072	chr7:50966591-50966592	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371534450	chr7:50966609-50966610	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs534304604	chr7:50966611-50966612	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs554342317	chr7:50966667-50966668	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs4052142	chr7:50966678-50966679	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111871436	chr7:50966693-50966694	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs536493337	chr7:50966694-50966695	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs151063973	chr7:50966695-50966696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs62449473	chr7:50966704-50966705	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs545252789	chr7:50966711-50966712	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50963800-50964000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:50965800-50967000	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:50966200-50966600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:50966200-50966600	Active TSS	A549	lung
5	chr7:50966200-50966600	Active TSS	Hela-S3	cervix
6	chr7:50966200-50966800	Active TSS	K562	blood
7	chr7:50966400-50967000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr7:50966400-50967000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:50966600-50967000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:50966600-50967000	Active TSS	Placenta	Placenta
11	chr7:50982000-50982400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:50982000-50982600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:50983000-50984400	Enhancers	Fetal Brain Male	brain
14	chr7:50983200-50983400	Enhancers	Pancreas	Pancrea
15	chr7:50983200-50983400	Enhancers	HUVEC	blood vessel
16	chr7:50983400-50983600	Bivalent Enhancer	HUVEC	blood vessel
17	chr7:50984400-50988600	Weak transcription	Fetal Brain Male	brain
18	chr7:50984600-50998200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:50987400-50988600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:50987800-50988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:50988000-50989600	Enhancers	Stomach Mucosa	stomach
22	chr7:50988600-50989200	Enhancers	Fetal Brain Male	brain
23	chr7:50988600-50990600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:50988800-50990400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:50989000-50989400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:50989200-50989800	Weak transcription	Fetal Brain Male	brain
27	chr7:50989800-50990000	Enhancers	Fetal Brain Male	brain
28	chr7:50990400-50991000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:50990400-50992000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr7:50990600-50991200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:50990800-50991400	Enhancers	Thymus	Thymus
32	chr7:50991200-50991400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:50991400-50991600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:50991600-50991800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:50991800-50992000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:50996600-50997000	Enhancers	Pancreas	Pancrea
37	chr7:50997000-51008600	Weak transcription	Pancreas	Pancrea
38	chr7:51002800-51003000	Enhancers	HSMM	muscle
39	chr7:51003200-51005400	Weak transcription	HSMM	muscle
40	chr7:51005200-51006200	Enhancers	HSMMtube	muscle
41	chr7:51005400-51007400	Enhancers	HSMM	muscle
42	chr7:51005600-51005800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr7:51005800-51006000	Enhancers	Right Atrium	heart
44	chr7:51005800-51006400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:51005800-51007400	Enhancers	Fetal Muscle Leg	muscle
46	chr7:51006000-51021200	Weak transcription	Right Atrium	heart
47	chr7:51006200-51007000	Flanking Active TSS	HSMMtube	muscle
48	chr7:51006200-51007200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr7:51006400-51007200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr7:51006600-51006800	Enhancers	Fetal Heart	heart

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