Variant report

Variant	nsv970515
Chromosome Location	chr7:65975431-65983898
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	CBX3	chr7:65982259-65982795	K562	blood:	n/a	n/a
2	CHD2	chr7:65982312-65982371	HepG2	liver:	n/a	n/a
3	CTCF	chr7:65982380-65982530	NHEK	skin:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
4	CTCF	chr7:65983100-65983250	HepG2	liver:	n/a	n/a
5	CTCF	chr7:65982460-65982610	HepG2	liver:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
6	CTCF	chr7:65982430-65982616	K562	blood:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
7	CTCF	chr7:65978373-65978494	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr7:65982373-65982619	K562	blood:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
9	CTCF	chr7:65982292-65982691	K562	blood:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
10	CTCF	chr7:65982380-65982530	HPAF	blood vessel:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
11	CTCF	chr7:65982380-65982530	HBMEC	blood vessel:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
12	CTCF	chr7:65982380-65982530	HCFaa	heart:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
13	CTCF	chr7:65982457-65982640	K562	blood:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
14	CTCF	chr7:65982486-65982546	HepG2	liver:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
15	CTCF	chr7:65982497-65982572	Hela-S3	cervix:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
16	CTCF	chr7:65982400-65982550	K562	blood:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
17	CTCF	chr7:65982482-65982543	H1-hESC	embryonic stem cell:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
18	CTCF	chr7:65982427-65982579	HepG2	liver:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
19	CTCF	chr7:65982480-65982630	HCPEpiC	choroid plexus:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
20	CTCF	chr7:65982460-65982610	SAEC	small airway:	n/a	chr7:65982502-65982515 chr7:65982500-65982518
21	EP300	chr7:65982699-65982749	K562	blood:	n/a	n/a
22	FOSL2	chr7:65983050-65983982	HepG2	liver:	n/a	n/a
23	JUN	chr7:65982673-65982867	K562	blood:	n/a	n/a
24	JUND	chr7:65982547-65982796	K562	blood:	n/a	n/a
25	MAFF	chr7:65982561-65982825	K562	blood:	n/a	n/a
26	MAFK	chr7:65982625-65982870	K562	blood:	n/a	n/a
27	POLR2A	chr7:65983166-65983235	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:65976543-65976568	MCF10A-Er-Src	breast:	n/a	n/a
29	POLR2A	chr7:65978173-65978494	HepG2	liver:	n/a	n/a
30	POLR2A	chr7:65982624-65982633	K562	blood:	n/a	n/a
31	POLR2A	chr7:65983557-65983676	K562	blood:	n/a	n/a
32	POLR2A	chr7:65983392-65983411	K562	blood:	n/a	n/a
33	POLR2A	chr7:65979138-65979399	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr7:65983725-65983959	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:65979131-65979458	HepG2	liver:	n/a	n/a
36	POLR2A	chr7:65981075-65981796	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr7:65981668-65981803	HepG2	liver:	n/a	n/a
38	POLR2A	chr7:65982973-65983001	HepG2	liver:	n/a	n/a
39	POLR2A	chr7:65982526-65983006	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr7:65979130-65979250	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr7:65979204-65979843	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr7:65980340-65980593	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:65983558-65983672	MCF-7	breast:	n/a	n/a
44	POLR2A	chr7:65980323-65980658	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr7:65983142-65983387	K562	blood:	n/a	n/a
46	POLR2A	chr7:65983402-65983621	U87	brain:	n/a	n/a
47	POLR2A	chr7:65982123-65982657	U87	brain:	n/a	n/a
48	POLR2A	chr7:65982117-65982486	U87	brain:	n/a	n/a
49	POLR2A	chr7:65982310-65982319	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:65983011-65983147	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65957845..65960105-chr7:65973887..65976639,2	K562	blood:
2	chr7:65964655..65966822-chr7:65973032..65975848,2	K562	blood:

Variant related genes	Relation type
ENSG00000234500	TF binding region
ENSG00000179342	TF binding region
ENSG00000223473	chromatin interactions
ENSG00000237310	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559763935	chr7:65975443-65975444	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs181410592	chr7:65975472-65975473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576476153	chr7:65975586-65975587	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs552110674	chr7:65975601-65975602	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs539049956	chr7:65975633-65975634	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs202224231	chr7:65975662-65975663	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538510676	chr7:65975686-65975687	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs140726678	chr7:65975709-65975710	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs548835711	chr7:65975717-65975718	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs112178190	chr7:65975738-65975739	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145861030	chr7:65975751-65975752	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs559988890	chr7:65975768-65975769	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs534339471	chr7:65975801-65975802	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs554313693	chr7:65975808-65975809	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10256310	chr7:65975841-65975842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10271578	chr7:65975842-65975843	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs10226100	chr7:65975855-65975856	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10271583	chr7:65975870-65975871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs577229050	chr7:65975872-65975873	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs184961915	chr7:65975874-65975875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556490859	chr7:65975885-65975886	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs575475097	chr7:65975919-65975920	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs146548720	chr7:65975959-65975960	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560787097	chr7:65975965-65975966	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541558010	chr7:65976055-65976056	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs574289685	chr7:65976097-65976098	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539992405	chr7:65976109-65976110	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs559998892	chr7:65976110-65976111	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs560079210	chr7:65976144-65976145	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs189473202	chr7:65976192-65976193	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs551915632	chr7:65976289-65976290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs562491179	chr7:65976323-65976324	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs552055435	chr7:65976368-65976369	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs573506685	chr7:65976372-65976373	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141206764	chr7:65976373-65976374	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs6950988	chr7:65976415-65976416	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs117259322	chr7:65976416-65976417	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs181022728	chr7:65976427-65976428	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570880508	chr7:65976444-65976445	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs75700265	chr7:65976458-65976459	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs549084624	chr7:65976475-65976476	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs367934863	chr7:65976491-65976492	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs185916084	chr7:65976512-65976513	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs554445718	chr7:65976521-65976522	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs574350700	chr7:65976551-65976552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs540053133	chr7:65976599-65976600	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569542153	chr7:65976610-65976611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201607237	chr7:65976625-65976626	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs6970860	chr7:65976634-65976635	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs191215816	chr7:65976670-65976671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65971200-65979600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:65973800-65982600	Weak transcription	HepG2	liver
3	chr7:65975200-65989600	Weak transcription	Fetal Intestine Small	intestine
4	chr7:65979200-65979600	Enhancers	Liver	Liver
5	chr7:65980400-65980600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:65980600-65989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:65981200-65981400	Enhancers	Fetal Brain Female	brain
8	chr7:65981400-66001000	Weak transcription	Fetal Brain Female	brain
9	chr7:65982400-65983000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr7:65982400-65983400	Enhancers	K562	blood
11	chr7:65982600-65982800	Flanking Active TSS	HepG2	liver
12	chr7:65982600-65983600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:65982600-65989000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:65982800-65983200	Active TSS	HepG2	liver
15	chr7:65982800-65983600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:65983000-65990200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:65983200-65983400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:65983200-65983400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr7:65983200-65984000	Flanking Active TSS	HepG2	liver
20	chr7:65983200-65984400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:65983400-66001800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:65983400-66006000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr7:65983600-65987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:65983600-65994400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:65983600-66000400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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