Variant report

Variant	nsv972222
Chromosome Location	chr8:115333239-115341341
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	CEBPB	chr8:115336098-115336490	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr8:115340764-115340863	GM20000	blood:	n/a	n/a
3	E2F4	chr8:115338846-115338992	MCF10A-Er-Src	breast:	n/a	n/a
4	EBF1	chr8:115336340-115336615	GM12878	blood:	n/a	chr8:115336482-115336493
5	GABPA	chr8:115333227-115333614	MCF-7	breast:	n/a	n/a
6	MAFK	chr8:115333664-115333775	HepG2	liver:	n/a	chr8:115333719-115333733 chr8:115333716-115333731 chr8:115333720-115333731 chr8:115333716-115333732 chr8:115333721-115333732 chr8:115333721-115333732
7	MAFK	chr8:115333626-115333776	HepG2	liver:	n/a	chr8:115333719-115333733 chr8:115333716-115333731 chr8:115333720-115333731 chr8:115333716-115333732 chr8:115333721-115333732 chr8:115333721-115333732
8	MYC	chr8:115333688-115333834	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr8:115338968-115339096	ProgFib	skin:	n/a	n/a
10	POLR2A	chr8:115339115-115339138	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:115333131-115333518	MCF10A-Er-Src	breast:	n/a	n/a
12	PRDM1	chr8:115335387-115335724	Hela-S3	cervix:	n/a	chr8:115335524-115335539
13	SPI1	chr8:115335343-115335680	GM12878	blood:	n/a	chr8:115335550-115335559
14	STAT3	chr8:115338496-115338678	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF7L2	chr8:115336125-115336562	Hela-S3	cervix:	n/a	n/a
16	TCF7L2	chr8:115335466-115335683	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:
2	chr8:115333482..115335799-chr8:115336000..115338063,2	K562	blood:

Variant related genes	Relation type
ENSG00000253499	TF binding region

Extended variants
information (count: 165 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:165 , 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	rs116663203	chr8:115333240-115333241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs539785898	chr8:115333288-115333289	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2270660	chr8:115333300-115333301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs534139044	chr8:115333314-115333315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549648077	chr8:115333344-115333345	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553609130	chr8:115333375-115333376	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs567979414	chr8:115333389-115333390	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs62540590	chr8:115333410-115333411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs151029607	chr8:115333419-115333420	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs369738134	chr8:115333421-115333422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs188136054	chr8:115333507-115333508	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs555920447	chr8:115333511-115333512	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs79490617	chr8:115333520-115333521	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs372954890	chr8:115333527-115333528	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140939632	chr8:115333532-115333533	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs561621784	chr8:115333555-115333556	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs191182860	chr8:115333564-115333565	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs17634231	chr8:115333611-115333612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs58327028	chr8:115333661-115333662	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs149785575	chr8:115333662-115333663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs182635403	chr8:115333664-115333665	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551811578	chr8:115333739-115333740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs560383119	chr8:115333746-115333747	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577440909	chr8:115333753-115333754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186942420	chr8:115333780-115333781	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs567892030	chr8:115333796-115333797	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs564169494	chr8:115333807-115333808	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571003193	chr8:115334880-115334881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548099961	chr8:115334885-115334886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184437970	chr8:115334916-115334917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs527298907	chr8:115334935-115334936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548620410	chr8:115334941-115334942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113612747	chr8:115334968-115334969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1497195	chr8:115335007-115335008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs371084919	chr8:115335016-115335017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs79747664	chr8:115335023-115335024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571445678	chr8:115335041-115335042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188346216	chr8:115335042-115335043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs554078223	chr8:115335134-115335135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572432345	chr8:115335146-115335147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543049749	chr8:115335181-115335182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10108383	chr8:115335219-115335220	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181819989	chr8:115335234-115335235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568549016	chr8:115335254-115335255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543930895	chr8:115335278-115335279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368035337	chr8:115335310-115335311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565316623	chr8:115335382-115335383	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs117451638	chr8:115335405-115335406	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs541321551	chr8:115335425-115335426	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs74359017	chr8:115335437-115335438	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115334800-115335000	Enhancers	Hela-S3	cervix
2	chr8:115334800-115337000	Enhancers	Dnd41	blood
3	chr8:115335000-115335400	Enhancers	GM12878-XiMat	blood
4	chr8:115335000-115338600	Weak transcription	Hela-S3	cervix
5	chr8:115336000-115336800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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