Variant report

Variant	nsv521033
Chromosome Location	chr8:104093359-104110575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:104095541-104095587	K562	blood:	n/a	n/a
2	BACH1	chr8:104102486-104102493	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:104107337-104107371	K562	blood:	n/a	n/a
4	BCL11A	chr8:104108917-104109093	GM12878	blood:	n/a	n/a
5	BCL3	chr8:104094887-104095295	GM12878	blood:	n/a	n/a
6	CEBPB	chr8:104103318-104103496	IMR90	lung:	n/a	n/a
7	CEBPB	chr8:104102872-104103081	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr8:104109141-104109320	IMR90	lung:	n/a	chr8:104109217-104109228 chr8:104109217-104109228 chr8:104109215-104109228
9	CEBPB	chr8:104102946-104103016	K562	blood:	n/a	n/a
10	CEBPB	chr8:104106860-104106978	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr8:104095560-104095710	AG10803	skin:	n/a	n/a
12	CUX1	chr8:104096522-104096523	K562	blood:	n/a	n/a
13	EBF1	chr8:104108757-104109158	GM12878	blood:	n/a	n/a
14	EP300	chr8:104108787-104109129	GM12878	blood:	n/a	n/a
15	EP300	chr8:104108592-104109171	GM12878	blood:	n/a	chr8:104108736-104108745
16	FOS	chr8:104105218-104105228	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr8:104105069-104105366	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:104105080-104105278	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr8:104105174-104105353	MCF10A-Er-Src	breast:	n/a	n/a
20	JUN	chr8:104103380-104103497	K562	blood:	n/a	n/a
21	MAX	chr8:104094963-104095065	NB4	blood:	n/a	chr8:104095024-104095034
22	MAZ	chr8:104095593-104095654	HepG2	liver:	n/a	n/a
23	MAZ	chr8:104108609-104108791	HepG2	liver:	n/a	n/a
24	NFATC1	chr8:104094908-104095314	GM12878	blood:	n/a	n/a
25	PBX3	chr8:104108926-104109082	GM12878	blood:	n/a	n/a
26	PBX3	chr8:104094998-104095119	GM12878	blood:	n/a	n/a
27	POLR2A	chr8:104101321-104101429	A549	lung:	n/a	n/a
28	POLR2A	chr8:104101434-104101471	A549	lung:	n/a	n/a
29	POLR2A	chr8:104109584-104109999	K562	blood:	n/a	n/a
30	POLR2A	chr8:104106878-104107270	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr8:104101213-104101364	ProgFib	skin:	n/a	n/a
32	RAD21	chr8:104095018-104095101	HepG2	liver:	n/a	n/a
33	RCOR1	chr8:104108880-104109151	GM12878	blood:	n/a	n/a
34	RUNX3	chr8:104108625-104108997	GM12878	blood:	n/a	n/a
35	SPI1	chr8:104108847-104109097	GM12878	blood:	n/a	chr8:104108989-104109002 chr8:104108976-104108989 chr8:104108978-104108987
36	SPI1	chr8:104108778-104109182	HL-60	blood:	n/a	chr8:104108989-104109002 chr8:104108976-104108989 chr8:104108978-104108987
37	STAT3	chr8:104105212-104105457	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr8:104105107-104105268	MCF10A-Er-Src	breast:	n/a	n/a
39	STAT3	chr8:104108696-104109132	GM12878	blood:	n/a	n/a
40	STAT5A	chr8:104094940-104095278	GM12878	blood:	n/a	n/a
41	TBP	chr8:104095525-104095544	GM12878	blood:	n/a	n/a
42	WRNIP1	chr8:104107840-104107995	GM12878	blood:	n/a	n/a
43	ZC3H11A	chr8:104101124-104101261	K562	blood:	n/a	n/a
44	ZNF384	chr8:104108691-104109295	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:104082725..104084383-chr8:104095090..104097237,2	MCF-7	breast:
2	chr8:104092100..104094274-chr8:104097821..104101418,3	K562	blood:
3	chr8:104093989..104095614-chr8:104098040..104099547,2	MCF-7	breast:
4	chr8:104090004..104092160-chr8:104092634..104094909,2	MCF-7	breast:
5	chr8:104110222..104113167-chr8:104144712..104147363,2	K562	blood:
6	chr8:104093989..104095614-chr8:104098040..104099547,2	MCF-7	breast:
7	chr8:104094593..104096552-chr8:104098718..104100840,2	K562	blood:
8	chr8:104110536..104112989-chr8:104114800..104117513,2	MCF-7	breast:
9	chr8:104098045..104100056-chr8:104425768..104428502,2	MCF-7	breast:
10	chr8:104094593..104096552-chr8:104098718..104100840,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C1-5	chr8:104103491-104103737	NONHSAT128153
2	lnc-ATP6V1C1-3	chr8:104097879-104098818	NONHSAT128151

No data

Variant related genes	Relation type
ENSG00000253977	TF binding region
ENSG00000253556	TF binding region
MTND1P5	TF binding region
ENSG00000265667	TF binding region
ENSG00000253795	chromatin interactions
ENSG00000164934	chromatin interactions
ENSG00000253556	chromatin interactions
ENSG00000164933	chromatin interactions

Extended variants
information (count: 646 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1018088	chr8:104093359-104093360	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192920051	chr8:104093377-104093378	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs59113332	chr8:104093407-104093408	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532787838	chr8:104093436-104093437	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs551366430	chr8:104093489-104093490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs78649961	chr8:104093518-104093519	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531254113	chr8:104093527-104093528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75515314	chr8:104093556-104093557	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs184141020	chr8:104093577-104093578	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567845731	chr8:104093622-104093623	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs535262777	chr8:104093662-104093663	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs35860380	chr8:104093716-104093717	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs60557594	chr8:104093730-104093731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs58413780	chr8:104093732-104093733	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553191141	chr8:104093760-104093761	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376368718	chr8:104093775-104093776	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs181077838	chr8:104093788-104093789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs184834058	chr8:104093848-104093849	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557325197	chr8:104093916-104093917	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189607615	chr8:104093951-104093952	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs543326033	chr8:104093994-104093995	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555275872	chr8:104094001-104094002	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573478493	chr8:104094017-104094018	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs181487333	chr8:104094057-104094058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs76181653	chr8:104094095-104094096	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533050888	chr8:104094126-104094127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs79641030	chr8:104094132-104094133	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs111832116	chr8:104094176-104094177	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530556602	chr8:104094204-104094205	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs574965929	chr8:104094242-104094243	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs16870054	chr8:104094292-104094293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550894735	chr8:104094297-104094298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7819080	chr8:104094370-104094371	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs73699566	chr8:104094372-104094373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141122956	chr8:104094441-104094442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75153138	chr8:104094448-104094449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372229191	chr8:104094456-104094457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10505038	chr8:104094459-104094460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76165982	chr8:104094482-104094483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375723266	chr8:104094497-104094498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201036367	chr8:104094507-104094508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567261808	chr8:104094512-104094513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550664010	chr8:104094514-104094515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568894594	chr8:104094530-104094531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536273223	chr8:104094592-104094593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190980606	chr8:104094644-104094645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573638417	chr8:104094691-104094692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534471729	chr8:104094701-104094702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553155295	chr8:104094706-104094707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577632155	chr8:104094721-104094722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
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
Sezary syndrome	18413736	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	21215367	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:104091400-104094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:104091600-104094000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:104092000-104094400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:104092400-104121600	Weak transcription	Right Atrium	heart
5	chr8:104092800-104093400	Enhancers	Left Ventricle	heart
6	chr8:104092800-104093400	Enhancers	Stomach Mucosa	stomach
7	chr8:104093000-104093400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:104093000-104093400	Enhancers	Placenta	Placenta
9	chr8:104093000-104093400	Enhancers	Gastric	stomach
10	chr8:104093000-104093400	Enhancers	Pancreas	Pancrea
11	chr8:104093200-104093400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:104093200-104093400	Enhancers	Spleen	Spleen
13	chr8:104093200-104094000	Enhancers	Brain Germinal Matrix	brain
14	chr8:104093200-104095000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:104094400-104094600	Enhancers	Primary hematopoietic stem cells	blood
16	chr8:104095000-104095200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr8:104102600-104103400	Enhancers	Fetal Heart	heart
18	chr8:104102800-104104600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr8:104106800-104107000	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:104106800-104107200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:104106800-104107600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:104107000-104107800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:104107200-104108600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:104107600-104107800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr8:104107600-104108600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:104107800-104110000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr8:104108400-104109400	Enhancers	GM12878-XiMat	blood
28	chr8:104108400-104109400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:104108400-104109600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr8:104108600-104109200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:104108600-104109600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:104108800-104109200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:104108800-104109400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:104109000-104109400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:104109000-104109400	Enhancers	Adipose Nuclei	Adipose
36	chr8:104109400-104111800	Weak transcription	GM12878-XiMat	blood

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