Variant report

Variant	esv1834433
Chromosome Location	chr7:5930582-5953089
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	chr7:5938179-5938410	GM12878	blood:	n/a	n/a
4	BCL11A	chr7:5938072-5938321	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	chr7:5938092-5938432	K562	blood:	n/a	n/a
8	CBX3	chr7:5937356-5938688	K562	blood:	n/a	n/a
9	CBX3	chr7:5938925-5939374	K562	blood:	n/a	n/a
10	CEBPB	chr7:5942532-5942815	K562	blood:	n/a	chr7:5942734-5942743 chr7:5942734-5942745
11	CHD2	chr7:5938146-5938417	Hela-S3	cervix:	n/a	n/a
12	CREB1	chr7:5938052-5938355	HepG2	liver:	n/a	n/a
13	CREB1	chr7:5938058-5938399	A549	lung:	n/a	n/a
14	CTCF	chr7:5938178-5938390	NHEK	skin:	n/a	chr7:5938264-5938273
15	CTCF	chr7:5938120-5938446	A549	lung:	n/a	chr7:5938264-5938273
16	CTCF	chr7:5938180-5938330	HRE	kidney:	n/a	chr7:5938264-5938273
17	CTCF	chr7:5939270-5939372	MCF-7	breast:	n/a	n/a
18	CTCF	chr7:5939766-5939902	LNCaP	prostate:	n/a	chr7:5939824-5939845
19	CTCF	chr7:5938180-5938330	GM06990	blood:	n/a	chr7:5938264-5938273
20	CTCF	chr7:5938180-5938330	NHEK	skin:	n/a	chr7:5938264-5938273
21	CTCF	chr7:5938120-5938270	HMEC	breast:	n/a	n/a
22	CTCF	chr7:5938762-5938903	GM13976	blood:	n/a	n/a
23	CTCF	chr7:5938160-5938310	HEK293	kidney:	n/a	chr7:5938264-5938273
24	CTCF	chr7:5938140-5938290	GM12866	blood:	n/a	chr7:5938264-5938273
25	CTCF	chr7:5938180-5938330	AG09309	skin:	n/a	chr7:5938264-5938273
26	CTCF	chr7:5939260-5939374	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:5938160-5938310	A549	lung:	n/a	chr7:5938264-5938273
28	CTCF	chr7:5938200-5938350	NHDF-neo	bronchial:	n/a	chr7:5938264-5938273
29	CTCF	chr7:5938100-5938250	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr7:5938141-5938434	IMR90	lung:	n/a	chr7:5938264-5938273
31	CTCF	chr7:5938163-5938386	A549	lung:	n/a	chr7:5938264-5938273
32	CTCF	chr7:5938176-5938381	Fibrobl	skin:	n/a	chr7:5938264-5938273
33	CTCF	chr7:5938250-5938328	Kidney_OC	kidney:	n/a	chr7:5938264-5938273
34	CTCF	chr7:5937965-5938439	SK-N-SH	brain:	n/a	chr7:5938264-5938273
35	CTCF	chr7:5938160-5938310	HPAF	blood vessel:	n/a	chr7:5938264-5938273
36	CTCF	chr7:5938180-5938330	GM12878	blood:	n/a	chr7:5938264-5938273
37	CTCF	chr7:5938181-5938378	ProgFib	skin:	n/a	chr7:5938264-5938273
38	CTCF	chr7:5938228-5938337	H1-hESC	embryonic stem cell:	n/a	chr7:5938264-5938273
39	CTCF	chr7:5938187-5938367	GM10248	blood:	n/a	chr7:5938264-5938273
40	CTCF	chr7:5938181-5938364	LNCaP	prostate:	n/a	chr7:5938264-5938273
41	CTCF	chr7:5938180-5938330	GM12872	blood:	n/a	chr7:5938264-5938273
42	CTCF	chr7:5938180-5938330	K562	blood:	n/a	chr7:5938264-5938273
43	CTCF	chr7:5938110-5938379	A549	lung:	n/a	chr7:5938264-5938273
44	CTCF	chr7:5938188-5938377	MCF-7	breast:	n/a	chr7:5938264-5938273
45	CTCF	chr7:5938186-5938337	HepG2	liver:	n/a	chr7:5938264-5938273
46	CTCF	chr7:5938160-5938310	NHEK	skin:	n/a	chr7:5938264-5938273
47	CTCF	chr7:5938160-5938310	HUVEC	blood vessel:	n/a	chr7:5938264-5938273
48	CTCF	chr7:5938180-5938330	HCPEpiC	choroid plexus:	n/a	chr7:5938264-5938273
49	CTCF	chr7:5938101-5938353	SK-N-SH_RA	brain:	n/a	chr7:5938264-5938273
50	CTCF	chr7:5938160-5938310	HRPEpiC	eye:	n/a	chr7:5938264-5938273

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:5938288-5938338	RPTEC	kidney:	n/a
2	chr7:5938288-5938338	RPTEC	kidney:	n/a
3	chr7:5938227-5938277	K562	blood:	n/a
4	chr7:5939791-5939841	HNPCEpiC	eye:	n/a
5	chr7:5937190-5937240	RPTEC	kidney:	n/a
6	chr7:5941157-5941207	RPTEC	kidney:	n/a
7	chr7:5938193-5938243	NHBE	bronchial:	n/a
8	chr7:5937486-5937536	PFSK-1	brain:	n/a
9	chr7:5937486-5937536	PANC-1	pancreas:	n/a
10	chr7:5938293-5938343	NHDF-neo	bronchial:	n/a
11	chr7:5937190-5937240	Jurkat	blood:	n/a
12	chr7:5938193-5938243	MCF10A-Er-Src	breast:	n/a
13	chr7:5937190-5937240	BE2_C	brain:	n/a
14	chr7:5938195-5938245	LNCaP	prostate:	n/a
15	chr7:5937433-5937483	U87	brain:	n/a
16	chr7:5935002-5935052	HAEpiC	amniotic membrane:	n/a
17	chr7:5938193-5938243	SKMC	muscle:	n/a
18	chr7:5938227-5938277	SK-N-SH	brain:	n/a
19	chr7:5938193-5938243	HRCEpiC	kidney:	n/a
20	chr7:5937433-5937483	PFSK-1	brain:	n/a
21	chr7:5939791-5939841	BJ	skin:	n/a
22	chr7:5938195-5938245	HCT-116	colon:	n/a
23	chr7:5938193-5938243	GM06990	blood:	n/a
24	chr7:5938293-5938343	HAEpiC	amniotic membrane:	n/a
25	chr7:5938195-5938245	Caco-2	colon:	n/a
26	chr7:5938288-5938338	SAEC	small airway:	n/a
27	chr7:5937433-5937483	HNPCEpiC	eye:	n/a
28	chr7:5938204-5938254	CMK	blood:	n/a
29	chr7:5938204-5938254	HAEpiC	amniotic membrane:	n/a
30	chr7:5938288-5938338	HL-60	blood:	n/a
31	chr7:5938195-5938245	NHDF-neo	bronchial:	n/a
32	chr7:5937433-5937483	GM12878	blood:	n/a
33	chr7:5938293-5938343	Hela-S3	cervix:	n/a
34	chr7:5938204-5938254	IMR90	lung:	fetal
35	chr7:5938195-5938245	SK-N-MC	brain:	n/a
36	chr7:5938193-5938243	K562	blood:	n/a
37	chr7:5938293-5938343	SAEC	small airway:	n/a
38	chr7:5938204-5938254	HRE	kidney:	n/a
39	chr7:5941157-5941207	AoSMC	blood vessel:	n/a
40	chr7:5938288-5938338	ECC-1	luminal epithelium:	n/a
41	chr7:5937433-5937483	SK-N-SH_RA	brain:	n/a
42	chr7:5939791-5939841	MCF-7	breast:	n/a
43	chr7:5938195-5938245	BE2_C	brain:	n/a
44	chr7:5935002-5935052	NB4	blood:	n/a
45	chr7:5938288-5938338	AG09319	gingival:	n/a
46	chr7:5938227-5938277	GM06990	blood:	n/a
47	chr7:5938288-5938338	ProgFib	skin:	n/a
48	chr7:5937486-5937536	HCM	heart:	n/a
49	chr7:5941157-5941207	HepG2	liver:	n/a
50	chr7:5938227-5938277	HCT-116	colon:	n/a

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

Extended variants
information (count: 1170 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1170 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6975026	chr7:5930582-5930583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs545648413	chr7:5930585-5930586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563947673	chr7:5930642-5930643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112628975	chr7:5930646-5930647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531252120	chr7:5930648-5930649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs34663351	chr7:5930664-5930665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181968281	chr7:5930712-5930713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567561832	chr7:5930731-5930732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112202186	chr7:5930740-5930741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551430450	chr7:5930743-5930744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141053238	chr7:5930749-5930750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186238949	chr7:5930752-5930753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571754093	chr7:5930754-5930755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576486210	chr7:5930761-5930762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373915711	chr7:5930866-5930867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539234827	chr7:5930878-5930879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557578983	chr7:5930906-5930907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557561063	chr7:5930974-5930975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569588218	chr7:5931009-5931010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs575957423	chr7:5931015-5931016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536965933	chr7:5931032-5931033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570067077	chr7:5931107-5931108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371214273	chr7:5931132-5931133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555305687	chr7:5931141-5931142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146765093	chr7:5931187-5931188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541059827	chr7:5931190-5931191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190659307	chr7:5931261-5931262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577839180	chr7:5931265-5931266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548881916	chr7:5931280-5931281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563886543	chr7:5931516-5931517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531188836	chr7:5931523-5931524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181575204	chr7:5931534-5931535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185683990	chr7:5931570-5931571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140419452	chr7:5931578-5931579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553314232	chr7:5931592-5931593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565213214	chr7:5931621-5931622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532493650	chr7:5931729-5931730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551129158	chr7:5931754-5931755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569526935	chr7:5931757-5931758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191514698	chr7:5931788-5931789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571214374	chr7:5931805-5931806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147982062	chr7:5931819-5931820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140755909	chr7:5931827-5931828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567582916	chr7:5931829-5931830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534299135	chr7:5931833-5931834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182832486	chr7:5931865-5931866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188011827	chr7:5931910-5931911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112266302	chr7:5931914-5931915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190701678	chr7:5931916-5931917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115263505	chr7:5931922-5931923	Weak transcription	n/a	n/a	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr7:5932800-5933800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:5933400-5933600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:5933600-5937800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:5934800-5935000	Enhancers	HepG2	liver
7	chr7:5934800-5935200	Enhancers	A549	lung
8	chr7:5934800-5935200	Enhancers	HMEC	breast
9	chr7:5935200-5937400	Weak transcription	HepG2	liver
10	chr7:5935200-5937800	Weak transcription	A549	lung
11	chr7:5935200-5951600	Weak transcription	HMEC	breast
12	chr7:5936800-5937000	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr7:5936800-5937000	Enhancers	GM12878-XiMat	blood
14	chr7:5936800-5937200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr7:5936800-5937200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:5937000-5937400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:5937000-5938200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:5937000-5938200	Active TSS	GM12878-XiMat	blood
19	chr7:5937200-5937400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:5937200-5937400	Enhancers	Dnd41	blood
21	chr7:5937200-5938200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:5937400-5937600	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr7:5937400-5937600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:5937400-5937600	Enhancers	Fetal Heart	heart
25	chr7:5937400-5937600	Flanking Active TSS	HepG2	liver
26	chr7:5937400-5937800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:5937400-5937800	Enhancers	Primary B cells from peripheral blood	blood
28	chr7:5937400-5937800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr7:5937400-5937800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr7:5937400-5937800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr7:5937400-5938000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:5937400-5938000	Flanking Active TSS	Dnd41	blood
33	chr7:5937400-5938200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:5937400-5938200	Active TSS	Brain Anterior Caudate	brain
35	chr7:5937400-5938200	Active TSS	Brain Cingulate Gyrus	brain
36	chr7:5937400-5938200	Enhancers	Brain Substantia Nigra	brain
37	chr7:5937400-5938400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr7:5937400-5938400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:5937400-5938400	Active TSS	Adipose Nuclei	Adipose
40	chr7:5937400-5938400	Active TSS	Brain Hippocampus Middle	brain
41	chr7:5937400-5938400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr7:5937400-5938400	Active TSS	Duodenum Mucosa	Duodenum
43	chr7:5937400-5938400	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr7:5937400-5938400	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr7:5937400-5938400	Active TSS	Hela-S3	cervix
46	chr7:5937400-5938400	Active TSS	Monocytes-CD14+_RO01746	blood
47	chr7:5937400-5939600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:5937600-5937800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:5937600-5937800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr7:5937600-5937800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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