Variant report

Variant	nsv971247
Chromosome Location	chr8:91001504-91007330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:91004988-91005096	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr8:91001501-91001748	GM12878	blood:	n/a	chr8:91001541-91001549
3	CEBPB	chr8:91004694-91004877	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr8:91004679-91004897	HepG2	liver:	n/a	n/a
5	CEBPB	chr8:91004654-91005029	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:91003203-91003404	HepG2	liver:	n/a	n/a
7	CEBPB	chr8:91004696-91004980	K562	blood:	n/a	n/a
8	CEBPB	chr8:91004675-91004942	IMR90	lung:	n/a	n/a
9	CEBPB	chr8:91004637-91005380	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:91004651-91005347	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:91004660-91005011	A549	lung:	n/a	n/a
12	CEBPB	chr8:91004608-91005043	HepG2	liver:	n/a	n/a
13	CEBPD	chr8:91004723-91004888	HepG2	liver:	n/a	n/a
14	CTCF	chr8:91001520-91001670	K562	blood:	n/a	n/a
15	CTCF	chr8:91001600-91001750	NHLF	lung:	n/a	n/a
16	CTCF	chr8:91001560-91001710	GM12873	blood:	n/a	n/a
17	CTCF	chr8:91001520-91001670	GM12864	blood:	n/a	n/a
18	CTCF	chr8:91007213-91008322	A549	lung:	n/a	n/a
19	CTCF	chr8:91007303-91008407	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr8:91001600-91001750	GM12872	blood:	n/a	n/a
21	CTCF	chr8:91001480-91001630	HPF	lung:	n/a	n/a
22	CTCF	chr8:91001500-91001650	MCF-7	breast:	n/a	n/a
23	CTCF	chr8:91001580-91001730	GM12875	blood:	n/a	n/a
24	CTCF	chr8:91001620-91001770	HPAF	blood vessel:	n/a	n/a
25	EP300	chr8:91005809-91006215	T-47D	breast:	n/a	chr8:91006104-91006118 chr8:91006100-91006114 chr8:91006105-91006119
26	EP300	chr8:91004775-91004857	HepG2	liver:	n/a	n/a
27	FOS	chr8:91004905-91005359	MCF10A-Er-Src	breast:	n/a	chr8:91005133-91005144 chr8:91005177-91005185
28	FOS	chr8:91005011-91005276	MCF10A-Er-Src	breast:	n/a	chr8:91005133-91005144 chr8:91005177-91005185
29	FOS	chr8:91004844-91005329	MCF10A-Er-Src	breast:	n/a	chr8:91005133-91005144 chr8:91005177-91005185
30	FOS	chr8:91004861-91005417	MCF10A-Er-Src	breast:	n/a	chr8:91005133-91005144 chr8:91005177-91005185
31	FOXA1	chr8:91005856-91006086	T-47D	breast:	n/a	n/a
32	FOXA1	chr8:91005825-91006090	T-47D	breast:	n/a	n/a
33	FOXA1	chr8:91005125-91005377	T-47D	breast:	n/a	n/a
34	FOXA2	chr8:91003231-91003477	HepG2	liver:	n/a	n/a
35	GATA1	chr8:91007228-91008121	PBDE	blood:	n/a	n/a
36	GATA1	chr8:91005124-91006301	PBDE	blood:	n/a	chr8:91005184-91005195
37	GATA2	chr8:91007274-91007776	K562	blood:	n/a	n/a
38	GATA3	chr8:91005790-91006104	T-47D	breast:	n/a	n/a
39	HNF4A	chr8:91004685-91004920	HepG2	liver:	n/a	n/a
40	HNF4A	chr8:91004651-91004877	HepG2	liver:	n/a	n/a
41	HNF4G	chr8:91004714-91004946	HepG2	liver:	n/a	n/a
42	MAFF	chr8:91004570-91004829	HepG2	liver:	n/a	n/a
43	MAFK	chr8:91004572-91004871	HepG2	liver:	n/a	n/a
44	MAFK	chr8:91004465-91004542	H1-hESC	embryonic stem cell:	n/a	n/a
45	MAFK	chr8:91004639-91004889	HepG2	liver:	n/a	n/a
46	MAX	chr8:91005055-91005210	HepG2	liver:	n/a	n/a
47	MYC	chr8:91004884-91005462	MCF10A-Er-Src	breast:	n/a	n/a
48	MYC	chr8:91004958-91005285	MCF10A-Er-Src	breast:	n/a	n/a
49	NRF1	chr8:91004725-91004755	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr8:91006303-91006386	MCF-7	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90999485..91002271-chr8:91003873..91006059,2	MCF-7	breast:
2	chr8:91001359..91005873-chr8:91011034..91014755,7	MCF-7	breast:
3	chr8:90999290..91002068-chr8:91002362..91003933,2	MCF-7	breast:
4	chr8:90891348..90893141-chr8:91002737..91005355,2	MCF-7	breast:
5	chr8:91004660..91006656-chr8:91014617..91016770,2	MCF-7	breast:
6	chr8:90860238..90861141-chr8:91007229..91008461,8	MCF-7	breast:
7	chr8:90999485..91002271-chr8:91003873..91006059,2	MCF-7	breast:
8	chr8:90998510..91002003-chr8:91006940..91009288,3	MCF-7	breast:
9	chr8:90995472..90998496-chr8:91005962..91009208,4	MCF-7	breast:
10	chr8:90993740..90998676-chr8:91006200..91009964,9	K562	blood:
11	chr8:90998510..91002003-chr8:91006940..91009288,3	MCF-7	breast:
12	chr8:90985980..90988201-chr8:91001629..91004012,2	MCF-7	breast:
13	chr8:91001841..91004677-chr8:91011322..91014082,3	MCF-7	breast:
14	chr8:90917254..90919157-chr8:91001242..91003446,2	K562	blood:
15	chr8:90999290..91002068-chr8:91002362..91003933,2	MCF-7	breast:

No data

Variant related genes	Relation type
NBN	TF binding region
ENSG00000104325	chromatin interactions
ENSG00000104320	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183348083	chr8:91001516-91001517	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs187839040	chr8:91001601-91001602	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs543545159	chr8:91001608-91001609	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538503348	chr8:91001632-91001633	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs556901969	chr8:91001649-91001650	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377472008	chr8:91001683-91001684	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs538679436	chr8:91001699-91001700	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs149201175	chr8:91001722-91001723	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564832165	chr8:91001735-91001736	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191898035	chr8:91001748-91001749	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112195860	chr8:91001878-91001879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs3026274	chr8:91001927-91001928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571683381	chr8:91001966-91001967	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538736394	chr8:91002025-91002026	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs554274700	chr8:91002034-91002035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs183229637	chr8:91002088-91002089	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs543265123	chr8:91002118-91002119	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564882172	chr8:91002130-91002131	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1805848	chr8:91002172-91002173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs1805849	chr8:91002174-91002175	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs145151547	chr8:91002282-91002283	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs115446843	chr8:91002390-91002391	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549468556	chr8:91002404-91002405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541280852	chr8:91002418-91002419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567709759	chr8:91002430-91002431	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs531991802	chr8:91002567-91002568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs1805801	chr8:91002586-91002587	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs375733606	chr8:91002637-91002638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554404629	chr8:91002648-91002649	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572002317	chr8:91002659-91002660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538614384	chr8:91002701-91002702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553459296	chr8:91002721-91002722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs139028021	chr8:91002736-91002737	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142315852	chr8:91002750-91002751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs554652432	chr8:91002765-91002766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs560862665	chr8:91002818-91002819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529753364	chr8:91002824-91002825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs575948206	chr8:91002847-91002848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs530443265	chr8:91002867-91002868	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs3026275	chr8:91002901-91002902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs575827676	chr8:91002908-91002909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1805802	chr8:91002909-91002910	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs116819567	chr8:91002912-91002913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs1805803	chr8:91002929-91002930	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs192662784	chr8:91003112-91003113	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560247300	chr8:91003175-91003176	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs527692068	chr8:91003176-91003177	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs542754912	chr8:91003186-91003187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145943558	chr8:91003234-91003235	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531927491	chr8:91003245-91003246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90997000-91004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:90997200-91005600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr8:90997600-91005200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:90999600-91004600	Weak transcription	NHEK	skin
5	chr8:90999800-91004800	Weak transcription	HMEC	breast
6	chr8:90999800-91005000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:91002400-91005000	Weak transcription	K562	blood
9	chr8:91003800-91004000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:91004000-91004200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:91004200-91004600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:91004600-91004800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:91004600-91005600	Enhancers	HepG2	liver
14	chr8:91004600-91005600	Enhancers	NHEK	skin
15	chr8:91004600-91006400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:91004800-91005000	Enhancers	Fetal Intestine Large	intestine
17	chr8:91004800-91005800	Enhancers	HMEC	breast
18	chr8:91004800-91006000	Enhancers	A549	lung
19	chr8:91004800-91007400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:91005000-91005200	Enhancers	K562	blood
21	chr8:91005000-91005400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:91005000-91005800	Enhancers	Fetal Heart	heart
23	chr8:91005000-91005800	Weak transcription	Fetal Intestine Large	intestine
24	chr8:91005200-91005800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:91005200-91006000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr8:91005200-91006200	Weak transcription	Fetal Intestine Small	intestine
27	chr8:91005200-91007400	Weak transcription	K562	blood
28	chr8:91005400-91006000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:91005600-91006000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr8:91005600-91006000	Weak transcription	HepG2	liver
31	chr8:91005600-91006200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr8:91005600-91006200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:91005800-91006000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:91005800-91006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:91005800-91006000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr8:91005800-91006400	Enhancers	Fetal Intestine Large	intestine
37	chr8:91006000-91006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:91006000-91006200	Enhancers	HepG2	liver
39	chr8:91006000-91007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr8:91006000-91007600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:91006000-91007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:91006000-91007600	Weak transcription	A549	lung
43	chr8:91006000-91007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:91006000-91012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:91006200-91006400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:91006200-91007400	Weak transcription	HepG2	liver
47	chr8:91006200-91007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:91006200-91012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:91006400-91007400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr8:91006400-91007600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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