Variant report

Variant	esv1811094
Chromosome Location	chr7:57014904-57095932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:57086880-57087001	GM12891	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57086957-57086966 chr7:57086891-57086899
2	CTCF	chr7:57074836-57074954	Pancreas_OC	pancreas:	n/a	n/a
3	CTCF	chr7:57066312-57066418	Lung_OC	lung:	n/a	n/a
4	CTCF	chr7:57026821-57026885	Lung_OC	lung:	n/a	n/a
5	CTCF	chr7:57025468-57025508	GM13976	blood:	n/a	n/a
6	CTCF	chr7:57076199-57076319	Kidney_OC	kidney:	n/a	n/a
7	CTCF	chr7:57033177-57033221	Spleen_OC	spleen:	n/a	n/a
8	CTCF	chr7:57029207-57029260	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr7:57082332-57082393	Kidney_OC	kidney:	n/a	n/a
10	CTCF	chr7:57041022-57041039	LNCaP	prostate:	n/a	n/a
11	CTCF	chr7:57086810-57087049	K562	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57087017-57087030 chr7:57086957-57086966 chr7:57086891-57086899
12	CTCF	chr7:57086809-57087078	K562	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57087017-57087030 chr7:57086957-57086966 chr7:57086891-57086899
13	CTCF	chr7:57082060-57082210	WERI-Rb-1	eye:	n/a	chr7:57082174-57082183 chr7:57082170-57082183 chr7:57082163-57082184 chr7:57082168-57082186 chr7:57082171-57082181
14	CTCF	chr7:57067681-57067700	GM10248	blood:	n/a	n/a
15	CTCF	chr7:57082117-57082231	MCF-7	breast:	n/a	chr7:57082174-57082183 chr7:57082170-57082183 chr7:57082163-57082184 chr7:57082168-57082186 chr7:57082171-57082181
16	CTCF	chr7:57074049-57074114	MCF-7	breast:	n/a	n/a
17	CTCF	chr7:57068210-57068270	GM20000	blood:	n/a	n/a
18	CTCF	chr7:57074048-57074061	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:57085637-57085664	Lung_OC	lung:	n/a	n/a
20	CTCF	chr7:57086890-57086982	K562	blood:	n/a	chr7:57086959-57086969 chr7:57086954-57086972 chr7:57086956-57086977 chr7:57086957-57086970 chr7:57086955-57086971 chr7:57086957-57086966 chr7:57086891-57086899
21	CTCF	chr7:57026724-57026810	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr7:57047345-57047417	GM10266	blood:	n/a	chr7:57047357-57047370
23	CTCF	chr7:57073677-57073758	GM19239	blood:	n/a	n/a
24	CTCF	chr7:57073900-57074050	WERI-Rb-1	eye:	n/a	n/a
25	CTCF	chr7:57048077-57048116	GM20000	blood:	n/a	n/a
26	CTCF	chr7:57026156-57026242	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr7:57073586-57073676	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr7:57061860-57061982	GM13976	blood:	n/a	n/a
29	CTCF	chr7:57029197-57029205	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr7:57082138-57082223	K562	blood:	n/a	chr7:57082174-57082183 chr7:57082170-57082183 chr7:57082163-57082184 chr7:57082168-57082186 chr7:57082171-57082181
31	CTCF	chr7:57078010-57078065	GM13976	blood:	n/a	n/a
32	CTCF	chr7:57074040-57074190	NB4	blood:	n/a	chr7:57074107-57074125 chr7:57074109-57074130
33	CTCF	chr7:57057291-57057380	GM20000	blood:	n/a	n/a
34	CTCF	chr7:57021831-57021861	MCF-7	breast:	n/a	n/a
35	CTCF	chr7:57069500-57069650	WERI-Rb-1	eye:	n/a	chr7:57069570-57069579 chr7:57069603-57069612 chr7:57069546-57069564 chr7:57069564-57069582
36	CTCF	chr7:57090073-57090087	Kidney_OC	kidney:	n/a	n/a
37	FOSL2	chr7:57079567-57080014	HepG2	liver:	n/a	chr7:57079680-57079694
38	FOXA1	chr7:57015204-57015480	HepG2	liver:	n/a	n/a
39	FOXA1	chr7:57042463-57043047	HepG2	liver:	n/a	n/a
40	HEY1	chr7:57016756-57017011	HepG2	liver:	n/a	n/a
41	MAX	chr7:57073842-57074026	NB4	blood:	n/a	chr7:57073867-57073877
42	MYC	chr7:57052887-57052947	GM12878	blood:	n/a	n/a
43	MYC	chr7:57083395-57083430	GM12878	blood:	n/a	n/a
44	MYC	chr7:57061593-57061647	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr7:57060232-57060241	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr7:57080686-57080728	HUVEC	blood vessel:	n/a	n/a
47	MYC	chr7:57056943-57056977	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr7:57073846-57073923	MCF-7	breast:	n/a	chr7:57073867-57073877
49	MYC	chr7:57061561-57061581	H1-hESC	embryonic stem cell:	n/a	n/a
50	MYC	chr7:57074149-57074265	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:57085312-57085362	AG04450	lung:	fetal
2	chr7:57076741-57076791	Hela-S3	cervix:	n/a
3	chr7:57088140-57088190	IMR90	lung:	fetal
4	chr7:57076741-57076791	K562	blood:	n/a
5	chr7:57076741-57076791	HIPEpiC	eye:	n/a
6	chr7:57084196-57084246	Hela-S3	cervix:	n/a
7	chr7:57083938-57083988	PANC-1	pancreas:	n/a
8	chr7:57072233-57072283	AG09319	gingival:	n/a
9	chr7:57069946-57069996	HCT-116	colon:	n/a
10	chr7:57071509-57071559	SK-N-MC	brain:	n/a
11	chr7:57085312-57085362	NB4	blood:	n/a
12	chr7:57071041-57071091	AG09309	skin:	n/a
13	chr7:57071509-57071559	A549	lung:	n/a
14	chr7:57080792-57080842	ProgFib	skin:	n/a
15	chr7:57090465-57090515	K562	blood:	n/a
16	chr7:57071041-57071091	BJ	skin:	n/a
17	chr7:57078300-57078350	MCF-7	breast:	n/a
18	chr7:57088140-57088190	HRE	kidney:	n/a
19	chr7:57088140-57088190	AG04450	lung:	fetal
20	chr7:57075456-57075506	RPTEC	kidney:	n/a
21	chr7:57076741-57076791	Hepatocyte	liver:	n/a
22	chr7:57071041-57071091	HMEC	breast:	n/a
23	chr7:57084196-57084246	SK-N-SH_RA	brain:	n/a
24	chr7:57069946-57069996	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:57071509-57071559	GM06990	blood:	n/a
26	chr7:57080792-57080842	RPTEC	kidney:	n/a
27	chr7:57085312-57085362	SK-N-SH_RA	brain:	n/a
28	chr7:57083938-57083988	SK-N-SH_RA	brain:	n/a
29	chr7:57071509-57071559	RPTEC	kidney:	n/a
30	chr7:57072233-57072283	GM06990	blood:	n/a
31	chr7:57017956-57018006	HRCEpiC	kidney:	n/a
32	chr7:57088851-57088901	HCPEpiC	choroid plexus:	n/a
33	chr7:57083938-57083988	HPAEpiC	pulmonary alveolar:	n/a
34	chr7:57088140-57088190	AG10803	skin:	n/a
35	chr7:57078300-57078350	GM19239	blood:	n/a
36	chr7:57076951-57077001	HCT-116	colon:	n/a
37	chr7:57090465-57090515	HCPEpiC	choroid plexus:	n/a
38	chr7:57090465-57090515	SKMC	muscle:	n/a
39	chr7:57081248-57081298	HPAEpiC	pulmonary alveolar:	n/a
40	chr7:57076863-57076913	HEEpiC	esophagus:	n/a
41	chr7:57084196-57084246	HepG2	liver:	n/a
42	chr7:57076741-57076791	BE2_C	brain:	n/a
43	chr7:57071041-57071091	HRCEpiC	kidney:	n/a
44	chr7:57071509-57071559	SAEC	small airway:	n/a
45	chr7:57084196-57084246	Hepatocyte	liver:	n/a
46	chr7:57016153-57016203	HCT-116	colon:	n/a
47	chr7:57088851-57088901	BJ	skin:	n/a
48	chr7:57084196-57084246	GM12892	blood:	n/a
49	chr7:57076741-57076791	HNPCEpiC	eye:	n/a
50	chr7:57081248-57081298	HAEpiC	amniotic membrane:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF716-25	chr7:57032955-57033214	NONHSAT120806

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4283	chr7:57023545-57023561	MIMAT0016914

Variant related genes	Relation type
RN7SL816P	TF binding region
ENSG00000225244	TF binding region
MIR4283-1	TF binding region
SLC29A4P1	TF binding region
TNRC18P3	TF binding region
RN7SL816P	CpG island
ENSG00000225244	CpG island
MIR4283-1	CpG island
SLC29A4P1	CpG island
TNRC18P3	CpG island

Extended variants
information (count: 113 )
Associated
traits (count: 84 )

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	rs370558878	chr7:57015052-57015053	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62460993	chr7:57015053-57015054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62461003	chr7:57015134-57015135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs567633293	chr7:57015236-57015237	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs535122834	chr7:57015237-57015238	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553460792	chr7:57015239-57015240	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs578144573	chr7:57015240-57015241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs373575300	chr7:57015261-57015262	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs568194750	chr7:57015263-57015264	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539266882	chr7:57015268-57015269	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200380216	chr7:57015330-57015331	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557517717	chr7:57015339-57015340	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575865319	chr7:57015398-57015399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140337599	chr7:57015428-57015429	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs200553164	chr7:57015508-57015509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375862245	chr7:57015509-57015510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs371672957	chr7:57015536-57015537	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs189304959	chr7:57015623-57015624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs560725838	chr7:57015632-57015633	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs188235063	chr7:57016153-57016154	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs147567136	chr7:57016183-57016184	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs113190187	chr7:57016960-57016961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs185209155	chr7:57016989-57016990	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs189601686	chr7:57017040-57017041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs141658614	chr7:57024012-57024013	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs564496701	chr7:57024022-57024023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532037215	chr7:57024046-57024047	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs113842021	chr7:57024049-57024050	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs375138574	chr7:57024322-57024323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369429190	chr7:57024329-57024330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs372295657	chr7:57024341-57024342	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs186525421	chr7:57024739-57024740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs539504705	chr7:57024760-57024761	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs555412987	chr7:57025478-57025479	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs872065	chr7:57025479-57025480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs573591564	chr7:57025490-57025491	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569722593	chr7:57026830-57026831	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs150602036	chr7:57026866-57026867	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs116844631	chr7:57026870-57026871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs59990275	chr7:57029200-57029201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs59212716	chr7:57029215-57029216	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs373239545	chr7:57032293-57032294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560136029	chr7:57032306-57032307	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs376528629	chr7:57032322-57032323	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs369513890	chr7:57032349-57032350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs533651779	chr7:57032354-57032355	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544710909	chr7:57032383-57032384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563258648	chr7:57032384-57032385	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs200071192	chr7:57033027-57033028	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs373941422	chr7:57033119-57033120	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Wilms tumour	21544195	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
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	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
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Intracranial ependymoma	16609018	CNVD
Lung cancer	21911935	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17925434	CNVD
Glioma	24330732	CNVD
Lung adenocarcinoma	23938291	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
Medullary thyroid carcinoma	18765511	CNVD
small cell lung cancer	20016488	CNVD
Bipolar disorder	19114987	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57061400-57061800	ZNF genes & repeats	Pancreas	Pancrea
2	chr7:57073600-57074000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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