Variant report

Variant	esv3421904
Chromosome Location	chr7:57711810-57716408
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:612)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr7:57713294-57713311	K562	blood:	n/a	n/a
2	CTCF	chr7:57716068-57716335	K562	blood:	n/a	n/a
3	CTCF	chr7:57716097-57716361	K562	blood:	n/a	n/a
4	CTCF	chr7:57712149-57712164	GM10266	blood:	n/a	n/a
5	CTCF	chr7:57713331-57713346	K562	blood:	n/a	n/a
6	CTCF	chr7:57716100-57716339	K562	blood:	n/a	n/a
7	CTCF	chr7:57712170-57712186	GM10266	blood:	n/a	n/a
8	CTCF	chr7:57716170-57716235	MCF-7	breast:	n/a	n/a
9	CTCF	chr7:57716161-57716308	K562	blood:	n/a	n/a
10	CTCF	chr7:57716120-57716270	WERI-Rb-1	eye:	n/a	n/a
11	NFYB	chr7:57713680-57714131	K562	blood:	n/a	n/a
12	PAX5	chr7:57711929-57712113	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:57712487-57712689	K562	blood:	n/a	n/a
14	RCOR1	chr7:57713111-57713306	K562	blood:	n/a	n/a
15	SMC3	chr7:57713665-57713821	Hela-S3	cervix:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57713841-57713891	ovcar-3	ovarian:	n/a
2	chr7:57712819-57712869	HEK293	kidney:	embryo
3	chr7:57713841-57713891	ovcar-3	ovarian:	n/a
4	chr7:57712819-57712869	HEK293	kidney:	embryo
5	chr7:57712753-57712803	ovcar-3	ovarian:	n/a
6	chr7:57714285-57714335	HEK293	kidney:	embryo
7	chr7:57715349-57715399	U87	brain:	n/a
8	chr7:57715349-57715399	SK-N-SH	brain:	n/a
9	chr7:57714285-57714335	HAEpiC	amniotic membrane:	n/a
10	chr7:57714270-57714320	Caco-2	colon:	n/a
11	chr7:57714285-57714335	GM12878	blood:	n/a
12	chr7:57713841-57713891	HCM	heart:	n/a
13	chr7:57712687-57712737	GM12891	blood:	n/a
14	chr7:57712753-57712803	MCF10A-Er-Src	breast:	n/a
15	chr7:57712819-57712869	HRCEpiC	kidney:	n/a
16	chr7:57715349-57715399	NT2-D1	testis:	n/a
17	chr7:57714756-57714806	HNPCEpiC	eye:	n/a
18	chr7:57714285-57714335	AoSMC	blood vessel:	n/a
19	chr7:57714756-57714806	BE2_C	brain:	n/a
20	chr7:57714756-57714806	HepG2	liver:	n/a
21	chr7:57714756-57714806	NB4	blood:	n/a
22	chr7:57713841-57713891	K562	blood:	n/a
23	chr7:57714270-57714320	BJ	skin:	n/a
24	chr7:57714270-57714320	SKMC	muscle:	n/a
25	chr7:57713841-57713891	GM12892	blood:	n/a
26	chr7:57712819-57712869	HEEpiC	esophagus:	n/a
27	chr7:57713841-57713891	HNPCEpiC	eye:	n/a
28	chr7:57712687-57712737	ProgFib	skin:	n/a
29	chr7:57714385-57714435	MCF-7	breast:	n/a
30	chr7:57715021-57715071	H1-hESC	embryonic stem cell:	embryo
31	chr7:57714756-57714806	HCM	heart:	n/a
32	chr7:57715021-57715071	GM12878	blood:	n/a
33	chr7:57712687-57712737	NHBE	bronchial:	n/a
34	chr7:57713841-57713891	AoSMC	blood vessel:	n/a
35	chr7:57715021-57715071	ProgFib	skin:	n/a
36	chr7:57714385-57714435	A549	lung:	n/a
37	chr7:57714270-57714320	Jurkat	blood:	n/a
38	chr7:57714270-57714320	SK-N-MC	brain:	n/a
39	chr7:57715021-57715071	K562	blood:	n/a
40	chr7:57714385-57714435	HNPCEpiC	eye:	n/a
41	chr7:57713841-57713891	LNCaP	prostate:	n/a
42	chr7:57712753-57712803	GM12891	blood:	n/a
43	chr7:57713841-57713891	GM19239	blood:	n/a
44	chr7:57712819-57712869	GM06990	blood:	n/a
45	chr7:57714385-57714435	GM12878	blood:	n/a
46	chr7:57715349-57715399	NB4	blood:	n/a
47	chr7:57714285-57714335	SK-N-SH	brain:	n/a
48	chr7:57712819-57712869	SKMC	muscle:	n/a
49	chr7:57714385-57714435	HRE	kidney:	n/a
50	chr7:57715349-57715399	Jurkat	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000234085	TF binding region
ENSG00000233962	TF binding region
ENSG00000236261	TF binding region
ENSG00000230796	TF binding region
ENSG00000234085	CpG island
ENSG00000233962	CpG island
ENSG00000236261	CpG island
ENSG00000230796	CpG island

Extended variants
information (count: 455 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:455 , 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	rs531739280	chr7:57711821-57711822	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs369022169	chr7:57711823-57711824	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543713053	chr7:57711849-57711850	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371388076	chr7:57711857-57711858	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374877812	chr7:57711869-57711870	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs369459317	chr7:57711879-57711880	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73358819	chr7:57711890-57711891	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529468285	chr7:57711906-57711907	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373135421	chr7:57711940-57711941	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
10	rs377404562	chr7:57711942-57711943	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
11	rs369854211	chr7:57711943-57711944	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
12	rs374582137	chr7:57711947-57711948	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
13	rs377746592	chr7:57711948-57711949	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
14	rs370178272	chr7:57711957-57711958	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
15	rs114964392	chr7:57711962-57711963	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
16	rs529435111	chr7:57711966-57711967	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
17	rs374898812	chr7:57711969-57711970	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
18	rs377477613	chr7:57711974-57711975	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
19	rs370910969	chr7:57711975-57711976	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
20	rs374244934	chr7:57711976-57711977	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
21	rs368631436	chr7:57711978-57711979	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
22	rs55702236	chr7:57711981-57711982	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs372228487	chr7:57711985-57711986	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs117714980	chr7:57711992-57711993	ZNF genes & repeats Enhancers	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs116815164	chr7:57712004-57712005	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
26	rs549554398	chr7:57712015-57712016	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs74781391	chr7:57712024-57712025	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs202240316	chr7:57712026-57712027	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs79875238	chr7:57712067-57712068	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs111812816	chr7:57712091-57712092	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs77126321	chr7:57712093-57712094	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
32	rs77723533	chr7:57712098-57712099	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
33	rs200515153	chr7:57712100-57712101	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
34	rs145550315	chr7:57712103-57712104	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
35	rs550953538	chr7:57712111-57712112	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
36	rs113412553	chr7:57712113-57712114	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
37	rs372325040	chr7:57712123-57712124	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs75285237	chr7:57712127-57712128	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs79287981	chr7:57712128-57712129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs145660536	chr7:57712133-57712134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs80228584	chr7:57712137-57712138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs148617386	chr7:57712139-57712140	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs569270333	chr7:57712150-57712151	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs146813144	chr7:57712166-57712167	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143368803	chr7:57712167-57712168	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs77988740	chr7:57712171-57712172	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs537070209	chr7:57712172-57712173	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs76890216	chr7:57712173-57712174	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs79346612	chr7:57712174-57712175	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs113275810	chr7:57712177-57712178	ZNF genes & repeats	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57705800-57716600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:57706000-57715600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:57706400-57713800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:57708400-57712200	ZNF genes & repeats	Adipose Nuclei	Adipose
5	chr7:57711000-57714400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:57711200-57714200	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:57711600-57712600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
8	chr7:57711800-57712000	Enhancers	K562	blood
9	chr7:57714200-57715000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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