Variant report

Variant	esv3584859
Chromosome Location	chr7:62672180-62720986
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr7:62716889-62717216	IMR90	lung:	n/a	chr7:62717050-62717059 chr7:62717120-62717131
2	CEBPB	chr7:62718347-62718604	IMR90	lung:	n/a	chr7:62718492-62718509
3	CEBPB	chr7:62718407-62718562	A549	lung:	n/a	chr7:62718492-62718509
4	CTCF	chr7:62696645-62696680	GM10248	blood:	n/a	n/a
5	CTCF	chr7:62685275-62685285	Lung_OC	lung:	n/a	n/a
6	CTCF	chr7:62696817-62696844	GM10248	blood:	n/a	n/a
7	CTCF	chr7:62696886-62696897	GM10248	blood:	n/a	n/a
8	CTCF	chr7:62679676-62679693	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr7:62686230-62686254	K562	blood:	n/a	chr7:62686232-62686248
10	CTCF	chr7:62714991-62715054	GM13977	blood:	n/a	n/a
11	CTCF	chr7:62686180-62686330	NB4	blood:	n/a	chr7:62686232-62686248
12	CTCF	chr7:62689768-62689846	GM13977	blood:	n/a	n/a
13	CTCF	chr7:62688103-62688161	GM10266	blood:	n/a	n/a
14	CTCF	chr7:62699818-62699874	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr7:62692546-62692664	Lung_OC	lung:	n/a	n/a
16	CTCF	chr7:62696773-62696804	GM10248	blood:	n/a	n/a
17	CTCF	chr7:62682954-62683027	LNCaP	prostate:	n/a	n/a
18	CTCF	chr7:62707366-62707390	LNCaP	prostate:	n/a	n/a
19	CTCF	chr7:62696872-62696878	GM10248	blood:	n/a	n/a
20	CTCF	chr7:62716111-62716220	LNCaP	prostate:	n/a	n/a
21	CTCF	chr7:62686160-62686310	WERI-Rb-1	eye:	n/a	chr7:62686232-62686248
22	CTCF	chr7:62695816-62695838	GM10248	blood:	n/a	n/a
23	CTCF	chr7:62686180-62686330	HEK293	kidney:	n/a	chr7:62686232-62686248
24	CTCF	chr7:62688840-62688930	GM10266	blood:	n/a	n/a
25	EP300	chr7:62679706-62679948	GM12878	blood:	n/a	chr7:62679825-62679839
26	JUN	chr7:62706148-62706392	HepG2	liver:	n/a	chr7:62706284-62706297 chr7:62706288-62706297
27	JUND	chr7:62698733-62698963	HepG2	liver:	n/a	n/a
28	JUND	chr7:62706154-62706445	HepG2	liver:	n/a	chr7:62706288-62706297
29	MAFF	chr7:62698173-62698252	HepG2	liver:	n/a	chr7:62698211-62698229
30	MAFK	chr7:62698059-62698393	HepG2	liver:	n/a	n/a
31	MAFK	chr7:62676345-62676469	HepG2	liver:	n/a	n/a
32	MAFK	chr7:62698201-62698253	K562	blood:	n/a	n/a
33	MAFK	chr7:62698166-62698384	HepG2	liver:	n/a	n/a
34	MAFK	chr7:62698050-62698397	IMR90	lung:	n/a	n/a
35	MYC	chr7:62672651-62672860	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr7:62678896-62678971	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr7:62710872-62710903	Gliobla	brain:	n/a	n/a
38	POLR2A	chr7:62678902-62678904	A549	lung:	n/a	n/a
39	POLR2A	chr7:62678855-62678901	A549	lung:	n/a	n/a
40	POLR2A	chr7:62693174-62693300	Gliobla	brain:	n/a	n/a
41	POLR2A	chr7:62693345-62693352	Gliobla	brain:	n/a	n/a
42	POLR2A	chr7:62707637-62708099	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr7:62689444-62689527	MCF10A-Er-Src	breast:	n/a	n/a
44	ZNF143	chr7:62674446-62674603	H1-hESC	embryonic stem cell:	n/a	n/a
45	ZNF274	chr7:62676881-62677457	GM08714	blood:	n/a	n/a
46	ZNF274	chr7:62676621-62677316	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:62693610-62693660	T-47D	breast:	n/a
2	chr7:62693631-62693681	Caco-2	colon:	n/a
3	chr7:62693610-62693660	ovcar-3	ovarian:	n/a
4	chr7:62693631-62693681	AG09319	gingival:	n/a
5	chr7:62693610-62693660	GM12891	blood:	n/a
6	chr7:62693631-62693681	T-47D	breast:	n/a
7	chr7:62693610-62693660	HCF	heart:	n/a
8	chr7:62693610-62693660	SK-N-SH_RA	brain:	n/a
9	chr7:62693631-62693681	AG09309	skin:	n/a
10	chr7:62693631-62693681	PFSK-1	brain:	n/a
11	chr7:62693610-62693660	HRE	kidney:	n/a
12	chr7:62693610-62693660	GM06990	blood:	n/a
13	chr7:62693610-62693660	AG04449	skin:	fetal
14	chr7:62693631-62693681	HRPEpiC	eye:	n/a
15	chr7:62693610-62693660	NH-A	brain:	n/a
16	chr7:62693631-62693681	Hela-S3	cervix:	n/a
17	chr7:62693631-62693681	HepG2	liver:	n/a
18	chr7:62693610-62693660	AG10803	skin:	n/a
19	chr7:62693631-62693681	SAEC	small airway:	n/a
20	chr7:62693631-62693681	LNCaP	prostate:	n/a
21	chr7:62693610-62693660	U87	brain:	n/a
22	chr7:62693610-62693660	HIPEpiC	eye:	n/a
23	chr7:62693610-62693660	HPAEpiC	pulmonary alveolar:	n/a
24	chr7:62693610-62693660	HL-60	blood:	n/a
25	chr7:62693631-62693681	GM12892	blood:	n/a
26	chr7:62693631-62693681	Hepatocyte	liver:	n/a
27	chr7:62693610-62693660	HMEC	breast:	n/a
28	chr7:62693610-62693660	CMK	blood:	n/a
29	chr7:62693610-62693660	HCM	heart:	n/a
30	chr7:62693610-62693660	HCPEpiC	choroid plexus:	n/a
31	chr7:62693631-62693681	HNPCEpiC	eye:	n/a
32	chr7:62693631-62693681	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:62693631-62693681	Jurkat	blood:	n/a
34	chr7:62693631-62693681	HRCEpiC	kidney:	n/a
35	chr7:62693610-62693660	ECC-1	luminal epithelium:	n/a
36	chr7:62693631-62693681	AG04449	skin:	fetal
37	chr7:62693631-62693681	HMEC	breast:	n/a
38	chr7:62693631-62693681	HAEpiC	amniotic membrane:	n/a
39	chr7:62693631-62693681	HEEpiC	esophagus:	n/a
40	chr7:62693610-62693660	Jurkat	blood:	n/a
41	chr7:62693610-62693660	PANC-1	pancreas:	n/a
42	chr7:62693610-62693660	GM12892	blood:	n/a
43	chr7:62693610-62693660	HUVEC	blood vessel:	n/a
44	chr7:62693631-62693681	HIPEpiC	eye:	n/a
45	chr7:62693610-62693660	ProgFib	skin:	n/a
46	chr7:62693610-62693660	HepG2	liver:	n/a
47	chr7:62693610-62693660	HRPEpiC	eye:	n/a
48	chr7:62693631-62693681	NHDF-neo	bronchial:	n/a
49	chr7:62693610-62693660	NHDF-neo	bronchial:	n/a
50	chr7:62693610-62693660	AG09319	gingival:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006455.1-8	chr7:62672054-62672200	NONHSAT120895

No data

Variant related genes	Relation type
PHKG1P1	TF binding region
ENSG00000244550	TF binding region
ENSG00000236638	TF binding region
SEPT7P4	TF binding region
PHKG1P1	CpG island
ENSG00000244550	CpG island
ENSG00000236638	CpG island
SEPT7P4	CpG island

Extended variants
information (count: 113 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112521298	chr7:62672185-62672186	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs137894714	chr7:62672198-62672199	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs566175302	chr7:62677448-62677449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372805500	chr7:62677552-62677553	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs535073102	chr7:62677566-62677567	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs187795363	chr7:62677574-62677575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs578089675	chr7:62677578-62677579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs192670381	chr7:62677608-62677609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs138157681	chr7:62677615-62677616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs557354231	chr7:62677622-62677623	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574032554	chr7:62677655-62677656	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374284266	chr7:62677709-62677710	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573060175	chr7:62677738-62677739	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs561297125	chr7:62677754-62677755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs571714375	chr7:62677757-62677758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540737727	chr7:62677781-62677782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564232176	chr7:62677795-62677796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs142327402	chr7:62677819-62677820	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs184959272	chr7:62677842-62677843	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs563566954	chr7:62677860-62677861	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374781665	chr7:62677886-62677887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529251951	chr7:62677907-62677908	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370112086	chr7:62677909-62677910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549301641	chr7:62677972-62677973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs145953430	chr7:62677981-62677982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs535039719	chr7:62677985-62677986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs551561272	chr7:62677989-62677990	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190063601	chr7:62677994-62677995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs3923004	chr7:62678022-62678023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs557576698	chr7:62678071-62678072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs573897764	chr7:62678084-62678085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551256104	chr7:62678090-62678091	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs536504493	chr7:62678119-62678120	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs192950077	chr7:62678130-62678131	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148217145	chr7:62678132-62678133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs12666959	chr7:62678168-62678169	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557553820	chr7:62678184-62678185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs577710244	chr7:62678235-62678236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184751044	chr7:62678237-62678238	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs543540951	chr7:62678240-62678241	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs113771880	chr7:62678304-62678305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs78522959	chr7:62678350-62678351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs542914939	chr7:62678367-62678368	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs35932384	chr7:62678387-62678388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs397890261	chr7:62678388-62678389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs551478654	chr7:62694233-62694234	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs571334437	chr7:62694234-62694235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs76238982	chr7:62694258-62694259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs550594444	chr7:62694269-62694270	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs567173380	chr7:62694307-62694308	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Schizophrenia	20967226	CNVD
Schizophrenia	21346763	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:62677400-62678400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:62694200-62694600	ZNF genes & repeats	Gastric	stomach

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