Variant report

Variant	nsv518005
Chromosome Location	chr8:68312818-68319668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:68318180-68318330	HMEC	breast:	n/a	n/a
2	CTCF	chr8:68318180-68318330	AG10803	skin:	n/a	n/a
3	CTCF	chr8:68318140-68318290	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr8:68318180-68318330	AG04450	lung:	n/a	n/a
5	CTCF	chr8:68318210-68318299	MCF-7	breast:	n/a	n/a
6	CTCF	chr8:68318160-68318310	MCF-7	breast:	n/a	n/a
7	CTCF	chr8:68318180-68318330	HMF	breast:	n/a	n/a
8	CTCF	chr8:68318260-68318410	HPF	lung:	n/a	n/a
9	CTCF	chr8:68318155-68318425	K562	blood:	n/a	n/a
10	CTCF	chr8:68318140-68318290	AG09309	skin:	n/a	n/a
11	CTCF	chr8:68318120-68318270	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr8:68318137-68318295	GM12878	blood:	n/a	n/a
13	CTCF	chr8:68318180-68318330	AoAF	blood vessel:	n/a	n/a
14	CTCF	chr8:68318280-68318430	AG09319	gingival:	n/a	n/a
15	CTCF	chr8:68318220-68318370	HMF	breast:	n/a	n/a
16	CTCF	chr8:68318100-68318250	NHDF-neo	bronchial:	n/a	n/a
17	CUX1	chr8:68316911-68316917	K562	blood:	n/a	n/a
18	MAFK	chr8:68313964-68314207	HepG2	liver:	n/a	chr8:68314095-68314110
19	MAFK	chr8:68319080-68319086	HepG2	liver:	n/a	n/a
20	MAFK	chr8:68314055-68314218	K562	blood:	n/a	chr8:68314095-68314110
21	MAFK	chr8:68313938-68314278	HepG2	liver:	n/a	chr8:68314095-68314110
22	MAX	chr8:68313970-68314288	K562	blood:	n/a	n/a
23	MAZ	chr8:68318660-68318673	HepG2	liver:	n/a	n/a
24	MYC	chr8:68314088-68314288	K562	blood:	n/a	n/a
25	POLR2A	chr8:68318474-68318674	MCF10A-Er-Src	breast:	n/a	n/a
26	SPI1	chr8:68313283-68313573	HL-60	blood:	n/a	n/a
27	STAT3	chr8:68313164-68313186	MCF10A-Er-Src	breast:	n/a	n/a
28	ZNF274	chr8:68315419-68315795	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:68302794..68305096-chr8:68311126..68313387,2	MCF-7	breast:
2	chr8:68312439..68315164-chr8:68315835..68318294,2	MCF-7	breast:
3	chr8:68312439..68315164-chr8:68315835..68318294,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000241961	TF binding region

Extended variants
information (count: 300 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10102487	chr8:68312818-68312819	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs555206519	chr8:68312897-68312898	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs141568120	chr8:68312901-68312902	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs537636040	chr8:68312959-68312960	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs557710874	chr8:68313011-68313012	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs578049229	chr8:68313059-68313060	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145337935	chr8:68313069-68313070	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs10103112	chr8:68313070-68313071	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs530306102	chr8:68313093-68313094	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs543068042	chr8:68313132-68313133	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7460618	chr8:68313149-68313150	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563152612	chr8:68313161-68313162	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs112806361	chr8:68313164-68313165	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373091683	chr8:68313188-68313189	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs576840925	chr8:68313210-68313211	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs191299691	chr8:68313262-68313263	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555645416	chr8:68313307-68313308	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148900207	chr8:68313313-68313314	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs544114298	chr8:68313314-68313315	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs559829166	chr8:68313318-68313319	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs376877359	chr8:68313378-68313379	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183495658	chr8:68313404-68313405	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs376138040	chr8:68313410-68313411	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs548606237	chr8:68313420-68313421	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs111687260	chr8:68313444-68313445	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143575082	chr8:68313455-68313456	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs148034427	chr8:68313525-68313526	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs140963655	chr8:68313535-68313536	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79862206	chr8:68313599-68313600	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs534006961	chr8:68313612-68313613	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537071343	chr8:68313656-68313657	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs11993447	chr8:68313690-68313691	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs73691342	chr8:68313700-68313701	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs144686705	chr8:68313717-68313718	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556634359	chr8:68313718-68313719	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576804742	chr8:68313731-68313732	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs562308388	chr8:68313771-68313772	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs565578076	chr8:68313783-68313784	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs572511382	chr8:68313860-68313861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs189494190	chr8:68313899-68313900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531345161	chr8:68313906-68313907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138566528	chr8:68313926-68313927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs548568229	chr8:68313940-68313941	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371334462	chr8:68313975-68313976	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs372415478	chr8:68314015-68314016	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182389727	chr8:68314055-68314056	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs531348990	chr8:68314056-68314057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs377126747	chr8:68314222-68314223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543427104	chr8:68314261-68314262	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs115185377	chr8:68314323-68314324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68283400-68314000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:68307800-68313200	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:68309600-68327200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:68311200-68313000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr8:68311600-68313200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:68311800-68314200	Enhancers	Thymus	Thymus
7	chr8:68312000-68314200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr8:68312200-68314400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr8:68312400-68313000	Enhancers	Primary T cells from cord blood	blood
10	chr8:68312400-68314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:68312600-68313400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr8:68312600-68313600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr8:68312600-68314200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:68312600-68314200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:68312600-68314200	Enhancers	Fetal Thymus	thymus
16	chr8:68312600-68314400	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:68312600-68314400	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr8:68312600-68314400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:68312800-68313800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr8:68312800-68314400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:68313000-68313400	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr8:68313000-68313600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr8:68313000-68313800	Enhancers	Primary B cells from cord blood	blood
24	chr8:68313200-68313600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr8:68313200-68313800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr8:68313400-68313800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr8:68313400-68314000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:68313400-68314400	Enhancers	Primary T cells from cord blood	blood
29	chr8:68313600-68314400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr8:68313800-68314200	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr8:68313800-68314200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:68314000-68314200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:68314200-68317600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr8:68314200-68317800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:68314200-68317800	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr8:68314200-68323000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:68314400-68317600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr8:68316800-68317000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr8:68317000-68319000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr8:68317600-68318200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr8:68317600-68319200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr8:68317800-68318200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr8:68317800-68318600	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr8:68318000-68320800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:68319000-68320600	Enhancers	H1 Cell Line	embryonic stem cell
46	chr8:68319000-68320600	Enhancers	H9 Cell Line	embryonic stem cell
47	chr8:68319000-68320800	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:68319000-68320800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr8:68319000-68320800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:68319200-68319400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links