Variant report

Variant	esv1828526
Chromosome Location	chr7:64581557-64600758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:161)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:161 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr7:64583217-64583436	GM12878	blood:	n/a	chr7:64583312-64583322
2	BCL11A	chr7:64593480-64593764	GM12878	blood:	n/a	n/a
3	CBX3	chr7:64596961-64597693	K562	blood:	n/a	n/a
4	CBX3	chr7:64596910-64598009	K562	blood:	n/a	n/a
5	CEBPB	chr7:64597188-64597656	K562	blood:	n/a	n/a
6	CEBPB	chr7:64590987-64591374	K562	blood:	n/a	chr7:64591197-64591210 chr7:64591161-64591173
7	CEBPD	chr7:64597188-64597607	K562	blood:	n/a	n/a
8	CTCF	chr7:64593567-64593647	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:64592615-64592665	Pancreas_OC	pancreas:	n/a	n/a
10	CTCF	chr7:64593520-64593670	HCT-116	colon:	n/a	n/a
11	CTCF	chr7:64593480-64593630	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr7:64593520-64593670	MCF-7	breast:	n/a	n/a
13	CTCF	chr7:64593493-64593744	LNCaP	prostate:	n/a	n/a
14	CTCF	chr7:64593567-64593658	MCF-7	breast:	n/a	n/a
15	CTCF	chr7:64593405-64593802	A549	lung:	n/a	n/a
16	CTCF	chr7:64593496-64593752	LNCaP	prostate:	n/a	n/a
17	CTCF	chr7:64593457-64593659	K562	blood:	n/a	n/a
18	CTCF	chr7:64593402-64593845	A549	lung:	n/a	n/a
19	CTCF	chr7:64593338-64593889	K562	blood:	n/a	n/a
20	CTCF	chr7:64593588-64593622	GM13977	blood:	n/a	n/a
21	CTCF	chr7:64593565-64593672	GM13976	blood:	n/a	n/a
22	CTCF	chr7:64593500-64593650	HMEC	breast:	n/a	n/a
23	CTCF	chr7:64585034-64585255	K562	blood:	n/a	chr7:64585182-64585203 chr7:64585180-64585198
24	CTCF	chr7:64593520-64593670	BE2_C	brain:	n/a	n/a
25	CTCF	chr7:64593603-64593644	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:64593540-64593707	Medullo	brain:	n/a	n/a
27	CTCF	chr7:64593442-64593814	GM12878	blood:	n/a	n/a
28	CTCF	chr7:64593500-64593650	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr7:64585052-64585269	K562	blood:	n/a	chr7:64585182-64585203 chr7:64585180-64585198
30	CTCF	chr7:64593401-64593854	K562	blood:	n/a	n/a
31	CTCF	chr7:64593587-64593656	Pancreas_OC	pancreas:	n/a	n/a
32	CTCF	chr7:64593572-64593706	GM20000	blood:	n/a	n/a
33	CTCF	chr7:64584991-64585312	K562	blood:	n/a	chr7:64585182-64585203 chr7:64585180-64585198
34	CTCF	chr7:64593349-64593813	K562	blood:	n/a	n/a
35	CTCF	chr7:64593578-64593734	Lung_OC	lung:	n/a	n/a
36	CTCF	chr7:64593560-64593710	NB4	blood:	n/a	n/a
37	CTCF	chr7:64593534-64593772	A549	lung:	n/a	n/a
38	CTCF	chr7:64593609-64593644	MCF-7	breast:	n/a	n/a
39	CTCF	chr7:64593526-64593700	GM10248	blood:	n/a	n/a
40	CTCF	chr7:64593480-64593630	HPAF	blood vessel:	n/a	n/a
41	CTCF	chr7:64593500-64593650	GM12878	blood:	n/a	n/a
42	CTCF	chr7:64585340-64585429	GM20000	blood:	n/a	n/a
43	CTCF	chr7:64593530-64593706	GM10266	blood:	n/a	n/a
44	CTCF	chr7:64593524-64593710	A549	lung:	n/a	n/a
45	CTCF	chr7:64593500-64593650	K562	blood:	n/a	n/a
46	CTCF	chr7:64595100-64595250	AG04450	lung:	n/a	n/a
47	CTCF	chr7:64593500-64593650	GM12864	blood:	n/a	n/a
48	CTCF	chr7:64593539-64593684	T-47D	breast:	n/a	n/a
49	CTCF	chr7:64593500-64593650	HRPEpiC	eye:	n/a	n/a
50	CTCF	chr7:64585135-64585241	Medullo	brain:	n/a	chr7:64585182-64585203 chr7:64585180-64585198

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64587587-64587637	GM19239	blood:	n/a
2	chr7:64587587-64587637	PrEC	prostate:	n/a
3	chr7:64597604-64597654	NT2-D1	testis:	n/a
4	chr7:64587587-64587637	RPTEC	kidney:	n/a
5	chr7:64587587-64587637	HRPEpiC	eye:	n/a
6	chr7:64597604-64597654	SK-N-SH	brain:	n/a
7	chr7:64597604-64597654	MCF-7	breast:	n/a
8	chr7:64597604-64597654	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:64587587-64587637	AG10803	skin:	n/a
10	chr7:64587587-64587637	PANC-1	pancreas:	n/a
11	chr7:64587587-64587637	SK-N-SH	brain:	n/a
12	chr7:64597604-64597654	ECC-1	luminal epithelium:	n/a
13	chr7:64587587-64587637	NHDF-neo	bronchial:	n/a
14	chr7:64587587-64587637	Jurkat	blood:	n/a
15	chr7:64587587-64587637	MCF10A-Er-Src	breast:	n/a
16	chr7:64587587-64587637	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:64597604-64597654	HAEpiC	amniotic membrane:	n/a
18	chr7:64597604-64597654	NB4	blood:	n/a
19	chr7:64587587-64587637	Caco-2	colon:	n/a
20	chr7:64587587-64587637	ECC-1	luminal epithelium:	n/a
21	chr7:64597604-64597654	NHBE	bronchial:	n/a
22	chr7:64587587-64587637	SK-N-SH_RA	brain:	n/a
23	chr7:64597604-64597654	HCT-116	colon:	n/a
24	chr7:64587587-64587637	U87	brain:	n/a
25	chr7:64587587-64587637	K562	blood:	n/a
26	chr7:64597604-64597654	NHDF-neo	bronchial:	n/a
27	chr7:64587587-64587637	HAEpiC	amniotic membrane:	n/a
28	chr7:64597604-64597654	BJ	skin:	n/a
29	chr7:64597604-64597654	BE2_C	brain:	n/a
30	chr7:64597604-64597654	ProgFib	skin:	n/a
31	chr7:64597604-64597654	HRE	kidney:	n/a
32	chr7:64587587-64587637	HCM	heart:	n/a
33	chr7:64587587-64587637	HEK293	kidney:	embryo
34	chr7:64587587-64587637	HUVEC	blood vessel:	n/a
35	chr7:64597604-64597654	IMR90	lung:	fetal
36	chr7:64597604-64597654	HCF	heart:	n/a
37	chr7:64587587-64587637	T-47D	breast:	n/a
38	chr7:64597604-64597654	CMK	blood:	n/a
39	chr7:64597604-64597654	GM06990	blood:	n/a
40	chr7:64587587-64587637	MCF-7	breast:	n/a
41	chr7:64587587-64587637	AoSMC	blood vessel:	n/a
42	chr7:64587587-64587637	SK-N-MC	brain:	n/a
43	chr7:64597604-64597654	SK-N-SH_RA	brain:	n/a
44	chr7:64587587-64587637	AG09309	skin:	n/a
45	chr7:64597604-64597654	Hepatocyte	liver:	n/a
46	chr7:64587587-64587637	HCT-116	colon:	n/a
47	chr7:64587587-64587637	Hepatocyte	liver:	n/a
48	chr7:64587587-64587637	NHBE	bronchial:	n/a
49	chr7:64597604-64597654	ovcar-3	ovarian:	n/a
50	chr7:64587587-64587637	HRE	kidney:	n/a

No data

Variant related genes	Relation type
INTS4L1	TF binding region
INTS4L1	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62455030	chr7:64596820-64596821	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62455031	chr7:64597122-64597123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62455032	chr7:64597405-64597406	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs535653050	chr7:64597464-64597465	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs1709521	chr7:64597546-64597547	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs2140593	chr7:64597624-64597625	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs534954477	chr7:64597683-64597684	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs558064133	chr7:64597800-64597801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs577590077	chr7:64597802-64597803	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543373654	chr7:64598194-64598195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs1852022	chr7:64598235-64598236	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs550909593	chr7:64599770-64599771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs545292279	chr7:64599882-64599883	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs373170395	chr7:64599890-64599891	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs189566333	chr7:64599895-64599896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs2458804	chr7:64599912-64599913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536787131	chr7:64599935-64599936	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs547103420	chr7:64599956-64599957	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs565912731	chr7:64599969-64599970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs534784786	chr7:64600024-64600025	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs557785080	chr7:64600054-64600055	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs565089355	chr7:64600058-64600059	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs577828690	chr7:64600071-64600072	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369990956	chr7:64600095-64600096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs372403278	chr7:64600099-64600100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536647120	chr7:64600171-64600172	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Cognitive impairment	21505072	CNVD
Schizophrenia	20967226	CNVD
Cancer	21272361	CNVD
Hodgkin''s lymphoma	17606441	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64600000-64600200	Enhancers	Brain Hippocampus Middle	brain

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