Variant report

Variant	nsv515049
Chromosome Location	chr8:99934848-99938584
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	chr8:99937504-99937663	HepG2	liver:	n/a	chr8:99937556-99937567
2	CEBPB	chr8:99937546-99937675	K562	blood:	n/a	chr8:99937556-99937567
3	CTCF	chr8:99935577-99935608	LNCaP	prostate:	n/a	n/a
4	CTCF	chr8:99937840-99937990	A549	lung:	n/a	n/a
5	CTCF	chr8:99935500-99935650	MCF-7	breast:	n/a	n/a
6	FOXA1	chr8:99936340-99936716	HepG2	liver:	n/a	chr8:99936507-99936519 chr8:99936580-99936595 chr8:99936503-99936515
7	FOXA1	chr8:99936374-99936661	T-47D	breast:	n/a	chr8:99936507-99936519 chr8:99936580-99936595 chr8:99936503-99936515
8	FOXA1	chr8:99936282-99936689	HepG2	liver:	n/a	chr8:99936507-99936519 chr8:99936580-99936595 chr8:99936503-99936515
9	FOXA1	chr8:99936260-99936710	HepG2	liver:	n/a	chr8:99936507-99936519 chr8:99936580-99936595 chr8:99936503-99936515
10	FOXA1	chr8:99936291-99936689	HepG2	liver:	n/a	chr8:99936507-99936519 chr8:99936580-99936595 chr8:99936503-99936515
11	FOXA2	chr8:99936337-99936671	HepG2	liver:	n/a	chr8:99936507-99936519 chr8:99936503-99936515
12	FOXA2	chr8:99936205-99936728	HepG2	liver:	n/a	chr8:99936507-99936519 chr8:99936503-99936515
13	GATA2	chr8:99937860-99938534	SH-SY5Y	brain:	n/a	chr8:99938416-99938425 chr8:99938509-99938518 chr8:99938413-99938429 chr8:99938274-99938284
14	GATA3	chr8:99937645-99938670	SK-N-SH	brain:	n/a	chr8:99938416-99938425 chr8:99938509-99938518 chr8:99938413-99938429 chr8:99938598-99938605 chr8:99938274-99938284
15	GATA3	chr8:99937887-99938615	SK-N-SH	brain:	n/a	chr8:99938416-99938425 chr8:99938509-99938518 chr8:99938413-99938429 chr8:99938598-99938605 chr8:99938274-99938284
16	JUND	chr8:99937535-99937595	HepG2	liver:	n/a	n/a
17	MXI1	chr8:99935703-99935711	Hela-S3	cervix:	n/a	n/a
18	MXI1	chr8:99935157-99935183	K562	blood:	n/a	n/a
19	NFIC	chr8:99937834-99938577	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr8:99937853-99938602	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr8:99937963-99937988	K562	blood:	n/a	n/a
22	POLR2A	chr8:99938069-99938486	SK-N-SH	brain:	n/a	n/a
23	RCOR1	chr8:99937975-99938216	K562	blood:	n/a	n/a
24	REST	chr8:99937860-99938262	PFSK-1	brain:	n/a	n/a
25	STAT3	chr8:99935264-99935464	MCF10A-Er-Src	breast:	n/a	n/a
26	TCF12	chr8:99937787-99938621	SK-N-SH	brain:	n/a	chr8:99938435-99938445
27	TCF12	chr8:99937711-99938631	SK-N-SH	brain:	n/a	chr8:99938435-99938445

No.	Distal block	Cell Line	Cell type
1	chr8:99935777..99938346-chr8:99942242..99944176,3	K562	blood:
2	chr8:99836376..99837915-chr8:99938345..99940401,2	MCF-7	breast:
3	chr8:99931677..99933733-chr8:99937087..99939527,3	MCF-7	breast:
4	chr8:99937897..99939994-chr8:99955043..99958506,3	K562	blood:
5	chr12:120635323..120636844-chr8:99936568..99939142,2	MCF-7	breast:
6	chr8:99933065..99935408-chr8:99936825..99939811,2	MCF-7	breast:
7	chr8:99936963..99939745-chr8:99942656..99945387,2	MCF-7	breast:

Variant related genes	Relation type
RN7SKP85	TF binding region
ENSG00000104375	chromatin interactions
ENSG00000164920	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000223281	chromatin interactions
ENSG00000271930	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575163537	chr8:99934872-99934873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576305301	chr8:99934950-99934951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531747584	chr8:99935008-99935009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545294006	chr8:99935022-99935023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558828187	chr8:99935150-99935151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186627877	chr8:99935163-99935164	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs35673481	chr8:99935196-99935197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369433357	chr8:99935208-99935209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72668448	chr8:99935219-99935220	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191426007	chr8:99935243-99935244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369069110	chr8:99935262-99935263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571655037	chr8:99935318-99935319	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534212450	chr8:99935341-99935342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562715379	chr8:99935347-99935348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs34802689	chr8:99935400-99935401	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs181603574	chr8:99935415-99935416	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs547618131	chr8:99935440-99935441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs567497944	chr8:99935460-99935461	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs186423237	chr8:99935461-99935462	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs73699940	chr8:99935497-99935498	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571937859	chr8:99935503-99935504	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551360074	chr8:99935533-99935534	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs527685607	chr8:99935550-99935551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs547813457	chr8:99935606-99935607	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs73279734	chr8:99935634-99935635	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375170321	chr8:99935640-99935641	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536417829	chr8:99935678-99935679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs72668449	chr8:99935699-99935700	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs377162586	chr8:99935788-99935789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575207409	chr8:99935799-99935800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112764141	chr8:99935814-99935815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191186780	chr8:99935840-99935841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs144031950	chr8:99935896-99935897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537848034	chr8:99935910-99935911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs148756993	chr8:99935958-99935959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557468270	chr8:99935982-99935983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112760558	chr8:99936024-99936025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs57170067	chr8:99936080-99936081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149640608	chr8:99936081-99936082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547875160	chr8:99936082-99936083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368361300	chr8:99936083-99936084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2860322	chr8:99936084-99936085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs200703481	chr8:99936086-99936087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs540976874	chr8:99936088-99936089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554503286	chr8:99936090-99936091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574118546	chr8:99936091-99936092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3029998	chr8:99936100-99936101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543081044	chr8:99936105-99936106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563079546	chr8:99936112-99936113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576209869	chr8:99936118-99936119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
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
Multiple myeloma	16461302	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
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
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99925800-99935800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:99927200-99942000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:99931800-99936200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:99932800-99935800	Weak transcription	Ovary	ovary
5	chr8:99933200-99938000	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:99933200-99939000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:99934200-99935000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:99934400-99935000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:99934800-99938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:99934800-99938800	Weak transcription	NHEK	skin
11	chr8:99935000-99938800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:99935000-99939000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:99935600-99939800	Enhancers	Fetal Lung	lung
14	chr8:99935800-99937600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:99935800-99939800	Enhancers	Ovary	ovary
16	chr8:99936200-99937000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr8:99936200-99937200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:99936400-99939400	Enhancers	Fetal Stomach	stomach
19	chr8:99936800-99939400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:99936800-99939800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:99937000-99946000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:99937200-99940800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:99937400-99938600	Enhancers	Osteobl	bone
24	chr8:99937600-99937800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:99937600-99939000	Enhancers	Fetal Kidney	kidney
26	chr8:99937600-99940600	Enhancers	NHDF-Ad	bronchial
27	chr8:99937800-99938000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:99938000-99938200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:99938000-99938200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:99938000-99939000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr8:99938000-99939200	Enhancers	Fetal Muscle Leg	muscle
32	chr8:99938000-99940600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr8:99938200-99938400	Enhancers	Brain Germinal Matrix	brain
34	chr8:99938200-99939200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:99938200-99944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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