Variant report

Variant	nsv970995
Chromosome Location	chr7:5933809-5941534
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	BATF	chr7:5938176-5938390	GM12878	blood:	n/a	n/a
2	BATF	chr7:5938735-5938983	GM12878	blood:	n/a	n/a
3	BCL11A	chr7:5938072-5938321	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:5938179-5938410	GM12878	blood:	n/a	n/a
5	BHLHE40	chr7:5938233-5938412	K562	blood:	n/a	n/a
6	BRCA1	chr7:5938138-5938423	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr7:5938925-5939374	K562	blood:	n/a	n/a
8	CBX3	chr7:5938092-5938432	K562	blood:	n/a	n/a
9	CBX3	chr7:5937356-5938688	K562	blood:	n/a	n/a
10	CHD2	chr7:5938146-5938417	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr7:5938052-5938355	HepG2	liver:	n/a	n/a
12	CREB1	chr7:5938058-5938399	A549	lung:	n/a	n/a
13	CTCF	chr7:5938140-5938290	HFF	foreskin:	n/a	chr7:5938264-5938273
14	CTCF	chr7:5938120-5938270	HEK293	kidney:	n/a	n/a
15	CTCF	chr7:5938155-5938395	MCF-7	breast:	n/a	chr7:5938264-5938273
16	CTCF	chr7:5938181-5938364	LNCaP	prostate:	n/a	chr7:5938264-5938273
17	CTCF	chr7:5938146-5938449	K562	blood:	n/a	chr7:5938264-5938273
18	CTCF	chr7:5935240-5935390	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr7:5939063-5939152	MCF-7	breast:	n/a	n/a
20	CTCF	chr7:5938187-5938371	GM20000	blood:	n/a	chr7:5938264-5938273
21	CTCF	chr7:5938220-5938370	BE2_C	brain:	n/a	chr7:5938264-5938273
22	CTCF	chr7:5938120-5938270	BJ	skin:	n/a	n/a
23	CTCF	chr7:5938160-5938310	GM12864	blood:	n/a	chr7:5938264-5938273
24	CTCF	chr7:5938188-5938377	MCF-7	breast:	n/a	chr7:5938264-5938273
25	CTCF	chr7:5938120-5938270	NB4	blood:	n/a	n/a
26	CTCF	chr7:5938165-5938388	GM12892	blood:	n/a	chr7:5938264-5938273
27	CTCF	chr7:5939660-5939810	MCF-7	breast:	n/a	n/a
28	CTCF	chr7:5939258-5939380	MCF-7	breast:	n/a	n/a
29	CTCF	chr7:5938220-5938370	WI-38	lung:	n/a	chr7:5938264-5938273
30	CTCF	chr7:5938160-5938310	HEK293	kidney:	n/a	chr7:5938264-5938273
31	CTCF	chr7:5938180-5938330	Hela-S3	cervix:	n/a	chr7:5938264-5938273
32	CTCF	chr7:5938140-5938361	MCF-7	breast:	n/a	chr7:5938264-5938273
33	CTCF	chr7:5938160-5938310	A549	lung:	n/a	chr7:5938264-5938273
34	CTCF	chr7:5938120-5938270	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr7:5938158-5938388	MCF-7	breast:	n/a	chr7:5938264-5938273
36	CTCF	chr7:5938180-5938330	GM12872	blood:	n/a	chr7:5938264-5938273
37	CTCF	chr7:5938180-5938330	HRE	kidney:	n/a	chr7:5938264-5938273
38	CTCF	chr7:5938200-5938350	HAc	cerebellar:	n/a	chr7:5938264-5938273
39	CTCF	chr7:5938160-5938310	HUVEC	blood vessel:	n/a	chr7:5938264-5938273
40	CTCF	chr7:5938171-5938382	Hela-S3	cervix:	n/a	chr7:5938264-5938273
41	CTCF	chr7:5938120-5938270	GM12865	blood:	n/a	n/a
42	CTCF	chr7:5939053-5939137	MCF-7	breast:	n/a	n/a
43	CTCF	chr7:5938200-5938350	HCT-116	colon:	n/a	chr7:5938264-5938273
44	CTCF	chr7:5938180-5938330	GM12878	blood:	n/a	chr7:5938264-5938273
45	CTCF	chr7:5938160-5938310	NHEK	skin:	n/a	chr7:5938264-5938273
46	CTCF	chr7:5938160-5938310	GM12868	blood:	n/a	chr7:5938264-5938273
47	CTCF	chr7:5938180-5938330	HBMEC	blood vessel:	n/a	chr7:5938264-5938273
48	CTCF	chr7:5939032-5939110	GM10248	blood:	n/a	n/a
49	CTCF	chr7:5938250-5938328	Kidney_OC	kidney:	n/a	chr7:5938264-5938273
50	CTCF	chr7:5938120-5938270	GM12873	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5935002-5935052	ECC-1	luminal epithelium:	n/a
2	chr7:5935002-5935052	ECC-1	luminal epithelium:	n/a
3	chr7:5938204-5938254	IMR90	lung:	fetal
4	chr7:5937190-5937240	AG09309	skin:	n/a
5	chr7:5937190-5937240	SK-N-SH_RA	brain:	n/a
6	chr7:5938288-5938338	T-47D	breast:	n/a
7	chr7:5938195-5938245	Caco-2	colon:	n/a
8	chr7:5941157-5941207	AG04450	lung:	fetal
9	chr7:5939791-5939841	AG09309	skin:	n/a
10	chr7:5938227-5938277	U87	brain:	n/a
11	chr7:5935002-5935052	HIPEpiC	eye:	n/a
12	chr7:5937486-5937536	NH-A	brain:	n/a
13	chr7:5938193-5938243	MCF-7	breast:	n/a
14	chr7:5938227-5938277	HNPCEpiC	eye:	n/a
15	chr7:5935002-5935052	GM12891	blood:	n/a
16	chr7:5939791-5939841	NHBE	bronchial:	n/a
17	chr7:5938195-5938245	NT2-D1	testis:	n/a
18	chr7:5941157-5941207	HEK293	kidney:	embryo
19	chr7:5941157-5941207	HCT-116	colon:	n/a
20	chr7:5938227-5938277	RPTEC	kidney:	n/a
21	chr7:5939791-5939841	BJ	skin:	n/a
22	chr7:5938288-5938338	SK-N-MC	brain:	n/a
23	chr7:5938195-5938245	AG04449	skin:	fetal
24	chr7:5938204-5938254	A549	lung:	n/a
25	chr7:5935002-5935052	BE2_C	brain:	n/a
26	chr7:5941157-5941207	AG09319	gingival:	n/a
27	chr7:5935002-5935052	HRCEpiC	kidney:	n/a
28	chr7:5938204-5938254	SK-N-SH	brain:	n/a
29	chr7:5937190-5937240	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:5939791-5939841	CMK	blood:	n/a
31	chr7:5938195-5938245	SKMC	muscle:	n/a
32	chr7:5937433-5937483	NHDF-neo	bronchial:	n/a
33	chr7:5937433-5937483	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:5938293-5938343	U87	brain:	n/a
35	chr7:5937190-5937240	NHDF-neo	bronchial:	n/a
36	chr7:5941157-5941207	SAEC	small airway:	n/a
37	chr7:5938193-5938243	AG09309	skin:	n/a
38	chr7:5941157-5941207	HNPCEpiC	eye:	n/a
39	chr7:5938193-5938243	HepG2	liver:	n/a
40	chr7:5941157-5941207	SK-N-MC	brain:	n/a
41	chr7:5938227-5938277	BE2_C	brain:	n/a
42	chr7:5938227-5938277	ProgFib	skin:	n/a
43	chr7:5938193-5938243	HUVEC	blood vessel:	n/a
44	chr7:5938227-5938277	CMK	blood:	n/a
45	chr7:5938227-5938277	Caco-2	colon:	n/a
46	chr7:5935002-5935052	SKMC	muscle:	n/a
47	chr7:5939791-5939841	HUVEC	blood vessel:	n/a
48	chr7:5937486-5937536	HNPCEpiC	eye:	n/a
49	chr7:5938227-5938277	BJ	skin:	n/a
50	chr7:5938204-5938254	HRE	kidney:	n/a

Variant related genes	Relation type
CCZ1	TF binding region
CCZ1	CpG island

Extended variants
information (count: 351 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192893585	chr7:5933871-5933872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556090962	chr7:5933921-5933922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574771866	chr7:5933962-5933963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541897774	chr7:5933967-5933968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373387949	chr7:5933984-5933985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs377545056	chr7:5934035-5934036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572475539	chr7:5934056-5934057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369587324	chr7:5934058-5934059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565093264	chr7:5934079-5934080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577169821	chr7:5934110-5934111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544522283	chr7:5934206-5934207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs370717059	chr7:5934214-5934215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553184498	chr7:5934215-5934216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529686074	chr7:5934216-5934217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547914517	chr7:5934227-5934228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183425744	chr7:5934242-5934243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs527397559	chr7:5934275-5934276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565985359	chr7:5934320-5934321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552310602	chr7:5934324-5934325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570713133	chr7:5934326-5934327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62453572	chr7:5934327-5934328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146731830	chr7:5934351-5934352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59173313	chr7:5934437-5934438	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553900859	chr7:5934446-5934447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530945372	chr7:5934453-5934454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370440548	chr7:5934465-5934466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572469592	chr7:5934470-5934471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539951012	chr7:5934482-5934483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542708201	chr7:5934490-5934491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561390996	chr7:5934505-5934506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374110646	chr7:5934545-5934546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35562794	chr7:5934551-5934552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201543248	chr7:5934563-5934564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562789180	chr7:5934597-5934598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188014523	chr7:5934598-5934599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541771999	chr7:5934626-5934627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559900939	chr7:5934634-5934635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191490549	chr7:5934703-5934704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527337234	chr7:5934718-5934719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs551851755	chr7:5934720-5934721	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546805049	chr7:5934732-5934733	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs531772287	chr7:5934787-5934788	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs571497569	chr7:5934790-5934791	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs550135092	chr7:5934803-5934804	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs532446754	chr7:5934872-5934873	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs550858671	chr7:5934911-5934912	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs55692717	chr7:5934914-5934915	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs561997521	chr7:5934920-5934921	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs56172958	chr7:5934926-5934927	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs536263434	chr7:5934945-5934946	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5895400-5938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:5899200-5937400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr7:5933600-5937800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr7:5934800-5935000	Enhancers	HepG2	liver
5	chr7:5934800-5935200	Enhancers	A549	lung
6	chr7:5934800-5935200	Enhancers	HMEC	breast
7	chr7:5935200-5937400	Weak transcription	HepG2	liver
8	chr7:5935200-5937800	Weak transcription	A549	lung
9	chr7:5935200-5951600	Weak transcription	HMEC	breast
10	chr7:5936800-5937000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr7:5936800-5937000	Enhancers	GM12878-XiMat	blood
12	chr7:5936800-5937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:5936800-5937200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:5937000-5937400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr7:5937000-5938200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr7:5937000-5938200	Active TSS	GM12878-XiMat	blood
17	chr7:5937200-5937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:5937200-5937400	Enhancers	Dnd41	blood
19	chr7:5937200-5938200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:5937400-5937600	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:5937400-5937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:5937400-5937600	Enhancers	Fetal Heart	heart
23	chr7:5937400-5937600	Flanking Active TSS	HepG2	liver
24	chr7:5937400-5937800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:5937400-5937800	Enhancers	Primary B cells from peripheral blood	blood
26	chr7:5937400-5937800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:5937400-5937800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:5937400-5937800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:5937400-5938000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr7:5937400-5938000	Flanking Active TSS	Dnd41	blood
31	chr7:5937400-5938200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr7:5937400-5938200	Active TSS	Brain Anterior Caudate	brain
33	chr7:5937400-5938200	Active TSS	Brain Cingulate Gyrus	brain
34	chr7:5937400-5938200	Enhancers	Brain Substantia Nigra	brain
35	chr7:5937400-5938400	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr7:5937400-5938400	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr7:5937400-5938400	Active TSS	Adipose Nuclei	Adipose
38	chr7:5937400-5938400	Active TSS	Brain Hippocampus Middle	brain
39	chr7:5937400-5938400	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr7:5937400-5938400	Active TSS	Duodenum Mucosa	Duodenum
41	chr7:5937400-5938400	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:5937400-5938400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr7:5937400-5938400	Active TSS	Hela-S3	cervix
44	chr7:5937400-5938400	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr7:5937400-5939600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:5937600-5937800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr7:5937600-5937800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr7:5937600-5937800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr7:5937600-5937800	Enhancers	Fetal Muscle Trunk	muscle
50	chr7:5937600-5937800	Enhancers	Fetal Muscle Leg	muscle

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