Variant report

Variant	esv3359198
Chromosome Location	chr7:57895310-57920608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr7:57918662-57918918	GM12878	blood:	n/a	n/a
2	CTCF	chr7:57918140-57918290	AG10803	skin:	n/a	n/a
3	CTCF	chr7:57918180-57918330	BE2_C	brain:	n/a	n/a
4	CTCF	chr7:57915620-57915770	AG10803	skin:	n/a	n/a
5	CTCF	chr7:57912953-57913042	LNCaP	prostate:	n/a	n/a
6	EBF1	chr7:57918238-57918417	GM12878	blood:	n/a	n/a
7	EP300	chr7:57918253-57918410	GM12878	blood:	n/a	n/a
8	EP300	chr7:57914870-57915093	GM12878	blood:	n/a	n/a
9	EP300	chr7:57914896-57915088	GM12878	blood:	n/a	n/a
10	EP300	chr7:57918264-57918460	GM12878	blood:	n/a	n/a
11	FOSL2	chr7:57906943-57907196	HepG2	liver:	n/a	n/a
12	FOSL2	chr7:57899633-57899890	HepG2	liver:	n/a	n/a
13	FOSL2	chr7:57918148-57918473	HepG2	liver:	n/a	n/a
14	FOSL2	chr7:57914872-57915090	HepG2	liver:	n/a	n/a
15	FOSL2	chr7:57900673-57901027	HepG2	liver:	n/a	n/a
16	FOSL2	chr7:57905346-57905642	HepG2	liver:	n/a	n/a
17	FOSL2	chr7:57897382-57898171	HepG2	liver:	n/a	n/a
18	FOSL2	chr7:57899967-57900292	HepG2	liver:	n/a	n/a
19	FOXA1	chr7:57917979-57918454	HepG2	liver:	n/a	n/a
20	FOXA1	chr7:57916475-57916769	HepG2	liver:	n/a	n/a
21	GABPA	chr7:57918221-57918425	Hela-S3	cervix:	n/a	n/a
22	GATA3	chr7:57918106-57918305	SH-SY5Y	brain:	n/a	n/a
23	IRF4	chr7:57918162-57918455	GM12878	blood:	n/a	n/a
24	JUND	chr7:57904664-57904842	HepG2	liver:	n/a	n/a
25	JUND	chr7:57918263-57918458	HepG2	liver:	n/a	n/a
26	JUND	chr7:57897460-57897713	HepG2	liver:	n/a	n/a
27	JUND	chr7:57905469-57905625	HepG2	liver:	n/a	n/a
28	JUND	chr7:57901820-57902011	HepG2	liver:	n/a	n/a
29	PAX5	chr7:57918638-57918953	GM12878	blood:	n/a	n/a
30	PAX5	chr7:57905586-57905956	GM12878	blood:	n/a	n/a
31	PAX5	chr7:57918645-57918834	GM12878	blood:	n/a	n/a
32	PAX5	chr7:57904642-57905197	GM12878	blood:	n/a	n/a
33	PAX5	chr7:57908074-57908482	GM12878	blood:	n/a	n/a
34	PAX5	chr7:57897874-57898167	GM12878	blood:	n/a	n/a
35	PAX5	chr7:57918109-57918552	GM12878	blood:	n/a	n/a
36	PBX3	chr7:57902297-57902420	GM12878	blood:	n/a	n/a
37	POU2F2	chr7:57909498-57909861	GM12878	blood:	n/a	n/a
38	POU2F2	chr7:57911106-57911471	GM12878	blood:	n/a	n/a
39	POU2F2	chr7:57910699-57911078	GM12878	blood:	n/a	n/a
40	POU2F2	chr7:57899019-57899336	GM12878	blood:	n/a	n/a
41	POU2F2	chr7:57918216-57918398	GM12878	blood:	n/a	n/a
42	POU2F2	chr7:57897647-57898068	GM12878	blood:	n/a	n/a
43	POU2F2	chr7:57914813-57915228	GM12878	blood:	n/a	n/a
44	POU2F2	chr7:57905230-57905634	GM12878	blood:	n/a	n/a
45	POU2F2	chr7:57914897-57915031	GM12878	blood:	n/a	n/a
46	REST	chr7:57894981-57895542	PANC-1	pancreas:	n/a	chr7:57895459-57895472 chr7:57895500-57895510
47	RXRA	chr7:57897295-57898311	HepG2	liver:	n/a	n/a
48	RXRA	chr7:57907506-57908035	HepG2	liver:	n/a	n/a
49	RXRA	chr7:57908712-57909177	HepG2	liver:	n/a	n/a
50	RXRA	chr7:57918115-57918471	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57896675-57896725	HEK293	kidney:	embryo
2	chr7:57896675-57896725	BJ	skin:	n/a
3	chr7:57896675-57896725	T-47D	breast:	n/a
4	chr7:57896675-57896725	AG09309	skin:	n/a
5	chr7:57896675-57896725	A549	lung:	n/a
6	chr7:57896675-57896725	SK-N-MC	brain:	n/a
7	chr7:57896675-57896725	HRPEpiC	eye:	n/a
8	chr7:57896675-57896725	HL-60	blood:	n/a
9	chr7:57896675-57896725	IMR90	lung:	fetal
10	chr7:57896675-57896725	Hela-S3	cervix:	n/a
11	chr7:57896675-57896725	AG04449	skin:	fetal
12	chr7:57896675-57896725	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:57896675-57896725	BE2_C	brain:	n/a
14	chr7:57896675-57896725	ovcar-3	ovarian:	n/a
15	chr7:57896675-57896725	HRCEpiC	kidney:	n/a
16	chr7:57896675-57896725	PANC-1	pancreas:	n/a
17	chr7:57896675-57896725	SAEC	small airway:	n/a
18	chr7:57896675-57896725	HEEpiC	esophagus:	n/a
19	chr7:57896675-57896725	K562	blood:	n/a
20	chr7:57896675-57896725	AG10803	skin:	n/a
21	chr7:57896675-57896725	PrEC	prostate:	n/a
22	chr7:57896675-57896725	HRE	kidney:	n/a
23	chr7:57896675-57896725	NHDF-neo	bronchial:	n/a
24	chr7:57896675-57896725	RPTEC	kidney:	n/a
25	chr7:57896675-57896725	GM12891	blood:	n/a
26	chr7:57896675-57896725	HCPEpiC	choroid plexus:	n/a
27	chr7:57896675-57896725	HCT-116	colon:	n/a
28	chr7:57896675-57896725	HCF	heart:	n/a
29	chr7:57896675-57896725	HCM	heart:	n/a
30	chr7:57896675-57896725	Jurkat	blood:	n/a
31	chr7:57896675-57896725	AG09319	gingival:	n/a
32	chr7:57896675-57896725	LNCaP	prostate:	n/a
33	chr7:57896675-57896725	H1-hESC	embryonic stem cell:	embryo
34	chr7:57896675-57896725	HepG2	liver:	n/a
35	chr7:57896675-57896725	GM12878	blood:	n/a
36	chr7:57896675-57896725	AoSMC	blood vessel:	n/a
37	chr7:57896675-57896725	NT2-D1	testis:	n/a
38	chr7:57896675-57896725	PFSK-1	brain:	n/a
39	chr7:57896675-57896725	AG04450	lung:	fetal
40	chr7:57896675-57896725	NB4	blood:	n/a
41	chr7:57896675-57896725	GM06990	blood:	n/a
42	chr7:57896675-57896725	GM19239	blood:	n/a
43	chr7:57896675-57896725	HNPCEpiC	eye:	n/a
44	chr7:57896675-57896725	ECC-1	luminal epithelium:	n/a
45	chr7:57896675-57896725	CMK	blood:	n/a
46	chr7:57896675-57896725	NHBE	bronchial:	n/a
47	chr7:57896675-57896725	GM12892	blood:	n/a
48	chr7:57896675-57896725	Caco-2	colon:	n/a
49	chr7:57896675-57896725	ProgFib	skin:	n/a
50	chr7:57896675-57896725	HIPEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-24	chr7:57896673-57896752	NONHSAT120882

No data

Variant related genes	Relation type
ENSG00000271696	TF binding region
ENSG00000271696	CpG island

Extended variants
information (count: 182 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:182 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534832291	chr7:57896690-57896691	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs374787571	chr7:57896692-57896693	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs553400631	chr7:57896694-57896695	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs578022239	chr7:57896722-57896723	Inactive region	CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs112966872	chr7:57897654-57897655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs545413432	chr7:57897841-57897842	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs111618814	chr7:57897853-57897854	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs138862317	chr7:57899003-57899004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs148993618	chr7:57899009-57899010	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs188730188	chr7:57899014-57899015	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs528626581	chr7:57899015-57899016	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs193285849	chr7:57899020-57899021	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546863411	chr7:57899029-57899030	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs565017596	chr7:57899055-57899056	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs374102468	chr7:57899056-57899057	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367682526	chr7:57899062-57899063	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs532103208	chr7:57899089-57899090	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs550589238	chr7:57899104-57899105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs568829580	chr7:57899106-57899107	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536555598	chr7:57899164-57899165	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs548478634	chr7:57899200-57899201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs566690895	chr7:57899214-57899215	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371932533	chr7:57899221-57899222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs374431345	chr7:57899268-57899269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs368869912	chr7:57899269-57899270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs371893145	chr7:57899329-57899330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs377113551	chr7:57899342-57899343	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs369674041	chr7:57899350-57899351	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs11508540	chr7:57899440-57899441	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs534030667	chr7:57899653-57899654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs199826439	chr7:57899823-57899824	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs200613919	chr7:57917418-57917419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78740516	chr7:57917422-57917423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs199498631	chr7:57917431-57917432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200838360	chr7:57917445-57917446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201820555	chr7:57917446-57917447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200196807	chr7:57917456-57917457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536277852	chr7:57917472-57917473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75346636	chr7:57917475-57917476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112051334	chr7:57917497-57917498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111690380	chr7:57917500-57917501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201039629	chr7:57917506-57917507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202182707	chr7:57917510-57917511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112373373	chr7:57917521-57917522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534463229	chr7:57917524-57917525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201196240	chr7:57917549-57917550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs202050615	chr7:57917555-57917556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559198646	chr7:57917556-57917557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200240963	chr7:57917559-57917560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577485211	chr7:57917564-57917565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	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
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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57917400-57918000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr7:57917800-57918400	Active TSS	Fetal Heart	heart
3	chr7:57918200-57918400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
4	chr7:57918200-57918800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell

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