Variant report

Variant	esv1794191
Chromosome Location	chr7:64566958-64634779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:352)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:64606224-64606235	HepG2	liver:	n/a	n/a
2	BATF	chr7:64583217-64583436	GM12878	blood:	n/a	chr7:64583312-64583322
3	BATF	chr7:64626662-64626865	GM12878	blood:	n/a	chr7:64626758-64626769
4	BATF	chr7:64607889-64608098	GM12878	blood:	n/a	n/a
5	BCL11A	chr7:64593480-64593764	GM12878	blood:	n/a	n/a
6	CBX3	chr7:64575978-64576471	K562	blood:	n/a	n/a
7	CBX3	chr7:64600836-64601564	K562	blood:	n/a	n/a
8	CBX3	chr7:64596961-64597693	K562	blood:	n/a	n/a
9	CBX3	chr7:64596910-64598009	K562	blood:	n/a	n/a
10	CBX3	chr7:64575969-64576353	K562	blood:	n/a	n/a
11	CBX3	chr7:64568683-64569067	K562	blood:	n/a	n/a
12	CBX3	chr7:64610511-64610893	K562	blood:	n/a	n/a
13	CEBPB	chr7:64604592-64605626	A549	lung:	n/a	chr7:64605174-64605185 chr7:64604747-64604758
14	CEBPB	chr7:64605088-64605299	IMR90	lung:	n/a	chr7:64605174-64605185
15	CEBPB	chr7:64606408-64607212	K562	blood:	n/a	n/a
16	CEBPB	chr7:64606056-64606680	HepG2	liver:	n/a	chr7:64606200-64606211
17	CEBPB	chr7:64590987-64591374	K562	blood:	n/a	chr7:64591197-64591210 chr7:64591161-64591173
18	CEBPB	chr7:64604592-64604811	IMR90	lung:	n/a	chr7:64604747-64604758
19	CEBPB	chr7:64604715-64604798	Hela-S3	cervix:	n/a	chr7:64604747-64604758
20	CEBPB	chr7:64597188-64597656	K562	blood:	n/a	n/a
21	CEBPB	chr7:64604706-64604728	HepG2	liver:	n/a	n/a
22	CEBPB	chr7:64605151-64605345	HepG2	liver:	n/a	chr7:64605174-64605185
23	CEBPB	chr7:64604687-64604747	K562	blood:	n/a	n/a
24	CEBPB	chr7:64606032-64607102	IMR90	lung:	n/a	chr7:64606200-64606211
25	CEBPB	chr7:64604492-64605803	K562	blood:	n/a	chr7:64605174-64605185 chr7:64604747-64604758
26	CEBPB	chr7:64605885-64607095	A549	lung:	n/a	chr7:64606200-64606211
27	CEBPB	chr7:64606211-64606264	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr7:64605904-64606366	K562	blood:	n/a	chr7:64606200-64606211
29	CEBPB	chr7:64606046-64606267	K562	blood:	n/a	chr7:64606200-64606211
30	CEBPB	chr7:64606894-64606926	K562	blood:	n/a	n/a
31	CEBPB	chr7:64605524-64605561	IMR90	lung:	n/a	n/a
32	CEBPD	chr7:64597188-64597607	K562	blood:	n/a	n/a
33	CEBPD	chr7:64610399-64610967	K562	blood:	n/a	n/a
34	CTCF	chr7:64593480-64593630	HPAF	blood vessel:	n/a	n/a
35	CTCF	chr7:64593540-64593707	Medullo	brain:	n/a	n/a
36	CTCF	chr7:64593572-64593706	GM20000	blood:	n/a	n/a
37	CTCF	chr7:64593530-64593706	GM10266	blood:	n/a	n/a
38	CTCF	chr7:64593480-64593630	HEEpiC	esophagus:	n/a	n/a
39	CTCF	chr7:64593524-64593710	A549	lung:	n/a	n/a
40	CTCF	chr7:64593539-64593684	T-47D	breast:	n/a	n/a
41	CTCF	chr7:64576325-64576348	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr7:64593520-64593670	HCT-116	colon:	n/a	n/a
43	CTCF	chr7:64585340-64585429	GM20000	blood:	n/a	n/a
44	CTCF	chr7:64578399-64578487	GM10248	blood:	n/a	n/a
45	CTCF	chr7:64593520-64593670	HMEC	breast:	n/a	n/a
46	CTCF	chr7:64585034-64585255	K562	blood:	n/a	chr7:64585182-64585203 chr7:64585180-64585198
47	CTCF	chr7:64593527-64593696	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr7:64593603-64593644	MCF-7	breast:	n/a	n/a
49	CTCF	chr7:64593500-64593650	GM12878	blood:	n/a	n/a
50	CTCF	chr7:64572213-64572273	Kidney_OC	kidney:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:64597604-64597654	AG10803	skin:	n/a
2	chr7:64597604-64597654	AG10803	skin:	n/a
3	chr7:64597604-64597654	BE2_C	brain:	n/a
4	chr7:64587587-64587637	MCF-7	breast:	n/a
5	chr7:64597604-64597654	ovcar-3	ovarian:	n/a
6	chr7:64602752-64602802	HEK293	kidney:	embryo
7	chr7:64587587-64587637	SAEC	small airway:	n/a
8	chr7:64597604-64597654	HPAEpiC	pulmonary alveolar:	n/a
9	chr7:64601662-64601712	CMK	blood:	n/a
10	chr7:64601662-64601712	GM12892	blood:	n/a
11	chr7:64602752-64602802	NHDF-neo	bronchial:	n/a
12	chr7:64580908-64580958	HEK293	kidney:	embryo
13	chr7:64597604-64597654	AG04449	skin:	fetal
14	chr7:64580908-64580958	PANC-1	pancreas:	n/a
15	chr7:64587587-64587637	AG04449	skin:	fetal
16	chr7:64587587-64587637	HNPCEpiC	eye:	n/a
17	chr7:64580908-64580958	RPTEC	kidney:	n/a
18	chr7:64597604-64597654	T-47D	breast:	n/a
19	chr7:64580908-64580958	AG09309	skin:	n/a
20	chr7:64602752-64602802	U87	brain:	n/a
21	chr7:64580908-64580958	HMEC	breast:	n/a
22	chr7:64587587-64587637	HRE	kidney:	n/a
23	chr7:64601662-64601712	HRE	kidney:	n/a
24	chr7:64597604-64597654	NHBE	bronchial:	n/a
25	chr7:64587587-64587637	HepG2	liver:	n/a
26	chr7:64587587-64587637	GM12891	blood:	n/a
27	chr7:64601662-64601712	SK-N-MC	brain:	n/a
28	chr7:64587587-64587637	HCM	heart:	n/a
29	chr7:64601662-64601712	AoSMC	blood vessel:	n/a
30	chr7:64580908-64580958	NHBE	bronchial:	n/a
31	chr7:64597604-64597654	CMK	blood:	n/a
32	chr7:64602752-64602802	HCF	heart:	n/a
33	chr7:64601662-64601712	NT2-D1	testis:	n/a
34	chr7:64580908-64580958	NH-A	brain:	n/a
35	chr7:64602752-64602802	AG04450	lung:	fetal
36	chr7:64580908-64580958	NHDF-neo	bronchial:	n/a
37	chr7:64601662-64601712	HRCEpiC	kidney:	n/a
38	chr7:64597604-64597654	HL-60	blood:	n/a
39	chr7:64587587-64587637	NB4	blood:	n/a
40	chr7:64597604-64597654	NT2-D1	testis:	n/a
41	chr7:64601662-64601712	NHDF-neo	bronchial:	n/a
42	chr7:64580908-64580958	HIPEpiC	eye:	n/a
43	chr7:64580908-64580958	AG04449	skin:	fetal
44	chr7:64587587-64587637	NHDF-neo	bronchial:	n/a
45	chr7:64601662-64601712	HPAEpiC	pulmonary alveolar:	n/a
46	chr7:64597604-64597654	HCT-116	colon:	n/a
47	chr7:64601662-64601712	BJ	skin:	n/a
48	chr7:64580908-64580958	SKMC	muscle:	n/a
49	chr7:64601662-64601712	SAEC	small airway:	n/a
50	chr7:64587587-64587637	GM19239	blood:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF273-7	chr7:64568773-64569143	NONHSAT121075

No data

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

Extended variants
information (count: 471 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:471 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576808542	chr7:64566966-64566967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542465832	chr7:64566998-64566999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555798640	chr7:64566999-64567000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368002018	chr7:64567005-64567006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184691943	chr7:64567066-64567067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541093185	chr7:64567073-64567074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564223853	chr7:64567085-64567086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11975040	chr7:64567100-64567101	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs200180633	chr7:64567191-64567192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3962297	chr7:64567197-64567198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201142396	chr7:64567226-64567227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3981939	chr7:64567238-64567239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545590523	chr7:64567243-64567244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562295575	chr7:64567251-64567252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371539584	chr7:64567262-64567263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531416020	chr7:64567264-64567265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373082708	chr7:64567278-64567279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201622353	chr7:64567284-64567285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200155512	chr7:64567342-64567343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200091961	chr7:64567363-64567364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201205153	chr7:64567373-64567374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187369458	chr7:64567374-64567375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370399879	chr7:64567382-64567383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148968982	chr7:64567389-64567390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201192280	chr7:64567402-64567403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142705666	chr7:64567403-64567404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368125501	chr7:64567427-64567428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370792783	chr7:64567430-64567431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375178066	chr7:64567458-64567459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368539267	chr7:64567459-64567460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201983032	chr7:64567473-64567474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372839284	chr7:64567487-64567488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200176924	chr7:64567488-64567489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201496792	chr7:64567498-64567499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367630010	chr7:64567500-64567501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371421649	chr7:64567518-64567519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs202095931	chr7:64567529-64567530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200535988	chr7:64567540-64567541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201116937	chr7:64567578-64567579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs202155656	chr7:64567620-64567621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200357568	chr7:64567621-64567622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1799324	chr7:64567707-64567708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202188053	chr7:64567742-64567743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200282675	chr7:64567805-64567806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201249430	chr7:64567826-64567827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62454977	chr7:64567904-64567905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369595637	chr7:64567920-64567921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199528461	chr7:64567943-64567944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373037257	chr7:64567966-64567967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376544141	chr7:64567970-64567971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64542000-64571000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:64542200-64567000	Weak transcription	Right Ventricle	heart
3	chr7:64542200-64568200	Weak transcription	Adipose Nuclei	Adipose
4	chr7:64542400-64573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:64553600-64567200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:64562000-64568200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:64600000-64600200	Enhancers	Brain Hippocampus Middle	brain
8	chr7:64601000-64601200	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:64601000-64601200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood
10	chr7:64601000-64601200	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
11	chr7:64601000-64601400	Active TSS	Primary B cells from peripheral blood	blood
12	chr7:64601000-64601400	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:64601000-64601400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr7:64601000-64601400	Active TSS	Placenta	Placenta
15	chr7:64601000-64601400	Active TSS	Right Atrium	heart
16	chr7:64601000-64601400	Bivalent/Poised TSS	HMEC	breast
17	chr7:64601000-64601600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:64601000-64601600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:64601000-64601600	Active TSS	Adipose Nuclei	Adipose
20	chr7:64601000-64601600	Active TSS	Ovary	ovary
21	chr7:64601000-64601800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:64601000-64601800	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:64601000-64601800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:64601000-64601800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:64601000-64601800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:64601000-64601800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:64601000-64601800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr7:64601000-64601800	Active TSS	Fetal Brain Female	brain
29	chr7:64601000-64601800	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr7:64601000-64601800	Active TSS	Psoas Muscle	Psoas
31	chr7:64601000-64601800	Active TSS	Right Ventricle	heart
32	chr7:64601000-64601800	Active TSS	HSMM	muscle
33	chr7:64601000-64601800	Active TSS	HSMMtube	muscle
34	chr7:64601000-64602000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr7:64601000-64602000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr7:64601000-64602000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr7:64601000-64602000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:64601000-64602000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:64601000-64602000	Active TSS	Brain Anterior Caudate	brain
40	chr7:64601000-64602000	Active TSS	Brain Germinal Matrix	brain
41	chr7:64601000-64602000	Active TSS	Brain Hippocampus Middle	brain
42	chr7:64601000-64602000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:64601000-64602000	Active TSS	K562	blood
44	chr7:64601200-64601400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr7:64601200-64601400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
46	chr7:64601200-64601400	Enhancers	Colonic Mucosa	Colon
47	chr7:64601200-64601600	Active TSS	H1 Cell Line	embryonic stem cell
48	chr7:64601200-64601600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr7:64601200-64601600	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:64601200-64601600	Active TSS	Osteobl	bone

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