Variant report

Variant	nsv6291
Chromosome Location	chr8:88767147-88802956
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	BACH1	chr8:88793459-88793553	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr8:88776700-88776957	H1-hESC	embryonic stem cell:	n/a	chr8:88776818-88776829
3	CTCF	chr8:88801340-88801490	MCF-7	breast:	n/a	n/a
4	CTCF	chr8:88790915-88790970	Lung_OC	lung:	n/a	n/a
5	CTCF	chr8:88797160-88797310	K562	blood:	n/a	n/a
6	CTCF	chr8:88785040-88785190	HPF	lung:	n/a	n/a
7	CTCF	chr8:88785100-88785250	HPF	lung:	n/a	n/a
8	CTCF	chr8:88790939-88791023	MCF-7	breast:	n/a	n/a
9	CTCF	chr8:88785040-88785190	HRE	kidney:	n/a	n/a
10	CTCF	chr8:88801143-88801193	ProgFib	skin:	n/a	n/a
11	CTCF	chr8:88772060-88772210	GM12865	blood:	n/a	n/a
12	E2F4	chr8:88784454-88784461	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr8:88770307-88770309	GM12878	blood:	n/a	n/a
14	FOS	chr8:88789085-88789627	HUVEC	blood vessel:	n/a	n/a
15	GATA2	chr8:88788991-88790026	HUVEC	blood vessel:	n/a	chr8:88789471-88789481 chr8:88789492-88789502
16	JUN	chr8:88793207-88793300	H1-hESC	embryonic stem cell:	n/a	n/a
17	KAP1	chr8:88797348-88797840	HEK293	kidney:	n/a	n/a
18	MAFK	chr8:88786967-88787201	HepG2	liver:	n/a	chr8:88787073-88787087 chr8:88787075-88787086
19	MAFK	chr8:88775299-88775481	HepG2	liver:	n/a	chr8:88775437-88775457 chr8:88775440-88775454 chr8:88775443-88775453 chr8:88775439-88775455
20	MYC	chr8:88795430-88795512	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr8:88770355-88770449	MCF10A-Er-Src	breast:	n/a	n/a
22	MYC	chr8:88790705-88791027	MCF-7	breast:	n/a	n/a
23	MYC	chr8:88790690-88790696	MCF-7	breast:	n/a	n/a
24	MYC	chr8:88790953-88791041	MCF-7	breast:	n/a	n/a
25	MYC	chr8:88792053-88792093	H1-hESC	embryonic stem cell:	n/a	n/a
26	MYC	chr8:88790707-88790985	MCF-7	breast:	n/a	n/a
27	NFYA	chr8:88783096-88783210	GM12878	blood:	n/a	n/a
28	POLR2A	chr8:88790725-88791086	A549	lung:	n/a	n/a
29	POLR2A	chr8:88777743-88777851	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr8:88767103-88767190	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:88791264-88791275	MCF-7	breast:	n/a	n/a
32	POLR2A	chr8:88801510-88801659	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:88801418-88801461	GM12878	blood:	n/a	n/a
34	POLR2A	chr8:88790700-88791258	MCF-7	breast:	n/a	n/a
35	POLR2A	chr8:88790334-88790363	MCF-7	breast:	n/a	n/a
36	POLR2A	chr8:88771852-88771877	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:88782639-88782723	GM12878	blood:	n/a	n/a
38	POLR2A	chr8:88782622-88782629	GM12878	blood:	n/a	n/a
39	POLR2A	chr8:88790671-88791082	MCF-7	breast:	n/a	n/a
40	POLR2A	chr8:88790671-88790698	MCF-7	breast:	n/a	n/a
41	POLR2A	chr8:88770836-88770899	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr8:88801058-88801190	A549	lung:	n/a	n/a
43	SETDB1	chr8:88797480-88797780	U2OS	brain:	n/a	n/a
44	STAT3	chr8:88786896-88787086	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr8:88768561-88768751	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr8:88801414-88801589	MCF10A-Er-Src	breast:	n/a	n/a
47	ZNF143	chr8:88797563-88797763	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:88771464..88773201-chr8:88775160..88777510,2	MCF-7	breast:
2	chr8:88771464..88773201-chr8:88775160..88777510,2	MCF-7	breast:
3	chr2:123589396..123591482-chr8:88778600..88780103,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF4L2-2	chr8:88767880-88767946	ENSG00000253500.1
2	lnc-DCAF4L2-2	chr8:88767880-88767923	ENSG00000253500.1

Variant related genes	Relation type
ENSG00000253500	TF binding region
SOX5P	TF binding region

Extended variants
information (count: 351 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184010193	chr8:88767214-88767215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112347664	chr8:88767219-88767220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs56924655	chr8:88767251-88767252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs57990946	chr8:88767316-88767317	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113479828	chr8:88767334-88767335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58215382	chr8:88767341-88767342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs570034505	chr8:88767466-88767467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537752454	chr8:88767499-88767500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147360832	chr8:88767508-88767509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577455156	chr8:88767536-88767537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368749284	chr8:88767537-88767538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188650913	chr8:88767558-88767559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139429630	chr8:88767573-88767574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181434704	chr8:88767574-88767575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553266989	chr8:88767597-88767598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533728241	chr8:88767672-88767673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143360380	chr8:88767685-88767686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184439439	chr8:88767710-88767711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560559968	chr8:88767743-88767744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs3094981	chr8:88767768-88767769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543011636	chr8:88767772-88767773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565224373	chr8:88767846-88767847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4498600	chr8:88767855-88767856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573825078	chr8:88767871-88767872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532290782	chr8:88767876-88767877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547598978	chr8:88767927-88767928	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs150901628	chr8:88767931-88767932	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs530236827	chr8:88768019-88768020	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190118608	chr8:88768049-88768050	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112556232	chr8:88768078-88768079	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10101044	chr8:88768098-88768099	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs552271354	chr8:88768099-88768100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571149292	chr8:88768104-88768105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182242457	chr8:88768107-88768108	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563761734	chr8:88768159-88768160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4500122	chr8:88768161-88768162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575769059	chr8:88768177-88768178	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187300435	chr8:88768185-88768186	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115903778	chr8:88768224-88768225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150029296	chr8:88768252-88768253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145257540	chr8:88768256-88768257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529217578	chr8:88768353-88768354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116213213	chr8:88768355-88768356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575724552	chr8:88768358-88768359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148753479	chr8:88768411-88768412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190842986	chr8:88768465-88768466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56109465	chr8:88768491-88768492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201812866	chr8:88768547-88768548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs180874826	chr8:88768553-88768554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559512040	chr8:88768602-88768603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:88760000-88768000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:88760000-88770600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:88766400-88767400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:88768000-88768200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
5	chr8:88769200-88769600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr8:88769600-88771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:88771400-88772000	Enhancers	Fetal Brain Male	brain
8	chr8:88771800-88772200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:88788400-88790200	Enhancers	HUVEC	blood vessel
10	chr8:88790200-88791200	ZNF genes & repeats	Aorta	Aorta
11	chr8:88790800-88791000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:88790800-88791200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:88796800-88798200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
14	chr8:88797400-88797800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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