Variant report

Variant	nsv967613
Chromosome Location	chr8:86840651-86841289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:244)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:86840509-86840673	GM12878	blood:	n/a	n/a
2	BCL11A	chr8:86840158-86840678	GM12878	blood:	n/a	n/a
3	EP300	chr8:86840541-86840679	GM12878	blood:	n/a	n/a
4	EP300	chr8:86840136-86840823	GM12878	blood:	n/a	n/a
5	FOSL2	chr8:86840143-86840823	HepG2	liver:	n/a	n/a
6	FOSL2	chr8:86840309-86840792	HepG2	liver:	n/a	n/a
7	FOXA2	chr8:86838565-86840838	A549	lung:	n/a	n/a
8	GABPA	chr8:86840145-86840758	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr8:86840517-86840728	Hela-S3	cervix:	n/a	n/a
10	GATA2	chr8:86840222-86840678	K562	blood:	n/a	n/a
11	HEY1	chr8:86840151-86840749	K562	blood:	n/a	n/a
12	HEY1	chr8:86840481-86840698	K562	blood:	n/a	n/a
13	IRF4	chr8:86840321-86840775	GM12878	blood:	n/a	n/a
14	JUND	chr8:86840536-86840676	HepG2	liver:	n/a	n/a
15	JUND	chr8:86840423-86840679	HepG2	liver:	n/a	n/a
16	PAX5	chr8:86840104-86840883	GM12878	blood:	n/a	n/a
17	PAX5	chr8:86840158-86840742	GM12878	blood:	n/a	n/a
18	PAX5	chr8:86840510-86840676	GM12878	blood:	n/a	n/a
19	PBX3	chr8:86840515-86840677	GM12878	blood:	n/a	n/a
20	POU2F2	chr8:86840125-86840821	GM12878	blood:	n/a	n/a
21	REST	chr8:86840165-86840738	PANC-1	pancreas:	n/a	n/a
22	REST	chr8:86840139-86840968	U87	brain:	n/a	chr8:86840903-86840916
23	RXRA	chr8:86840241-86840882	HepG2	liver:	n/a	n/a
24	SIN3AK20	chr8:86840516-86840677	HepG2	liver:	n/a	n/a
25	SIN3AK20	chr8:86840520-86840680	HepG2	liver:	n/a	n/a
26	SIX5	chr8:86840329-86840754	K562	blood:	n/a	n/a
27	SIX5	chr8:86840151-86840756	K562	blood:	n/a	n/a
28	SP1	chr8:86840128-86840710	GM12878	blood:	n/a	n/a
29	SPI1	chr8:86840522-86840658	GM12878	blood:	n/a	n/a
30	SPI1	chr8:86840224-86840747	GM12878	blood:	n/a	n/a
31	SPI1	chr8:86840507-86840676	K562	blood:	n/a	n/a
32	TCF12	chr8:86840165-86840743	GM12878	blood:	n/a	n/a
33	TCF12	chr8:86840335-86840744	GM12878	blood:	n/a	n/a
34	TCF12	chr8:86840493-86840690	HepG2	liver:	n/a	n/a
35	TCF3	chr8:86840135-86840822	GM12878	blood:	n/a	n/a
36	USF1	chr8:86840515-86840727	HepG2	liver:	n/a	n/a
37	ZBTB33	chr8:86840521-86840722	HepG2	liver:	n/a	n/a
38	ZBTB33	chr8:86840131-86840759	GM12878	blood:	n/a	n/a
39	ZBTB33	chr8:86840323-86840705	K562	blood:	n/a	n/a
40	ZBTB33	chr8:86840230-86840703	HepG2	liver:	n/a	n/a
41	ZBTB33	chr8:86840143-86840962	K562	blood:	n/a	n/a
42	ZBTB33	chr8:86840139-86840818	GM12878	blood:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:86840961-86841011	Hepatocyte	liver:	n/a
2	chr8:86841010-86841060	Hela-S3	cervix:	n/a
3	chr8:86840929-86840979	HRPEpiC	eye:	n/a
4	chr8:86840961-86841011	ECC-1	luminal epithelium:	n/a
5	chr8:86840954-86841004	K562	blood:	n/a
6	chr8:86840954-86841004	NHBE	bronchial:	n/a
7	chr8:86840961-86841011	ovcar-3	ovarian:	n/a
8	chr8:86840961-86841011	HNPCEpiC	eye:	n/a
9	chr8:86840961-86841011	PFSK-1	brain:	n/a
10	chr8:86840961-86841011	AG09309	skin:	n/a
11	chr8:86840929-86840979	HCF	heart:	n/a
12	chr8:86841010-86841060	SKMC	muscle:	n/a
13	chr8:86840929-86840979	LNCaP	prostate:	n/a
14	chr8:86840961-86841011	BJ	skin:	n/a
15	chr8:86840929-86840979	Hepatocyte	liver:	n/a
16	chr8:86840961-86841011	HRCEpiC	kidney:	n/a
17	chr8:86840929-86840979	HRE	kidney:	n/a
18	chr8:86840954-86841004	SKMC	muscle:	n/a
19	chr8:86840929-86840979	Hela-S3	cervix:	n/a
20	chr8:86841010-86841060	NHBE	bronchial:	n/a
21	chr8:86841010-86841060	HPAEpiC	pulmonary alveolar:	n/a
22	chr8:86840954-86841004	NHDF-neo	bronchial:	n/a
23	chr8:86840954-86841004	AG10803	skin:	n/a
24	chr8:86840961-86841011	GM19239	blood:	n/a
25	chr8:86840954-86841004	HUVEC	blood vessel:	n/a
26	chr8:86841010-86841060	AG10803	skin:	n/a
27	chr8:86840961-86841011	NT2-D1	testis:	n/a
28	chr8:86840954-86841004	AoSMC	blood vessel:	n/a
29	chr8:86840954-86841004	SK-N-MC	brain:	n/a
30	chr8:86840929-86840979	HUVEC	blood vessel:	n/a
31	chr8:86840929-86840979	HNPCEpiC	eye:	n/a
32	chr8:86840954-86841004	Hela-S3	cervix:	n/a
33	chr8:86840929-86840979	Jurkat	blood:	n/a
34	chr8:86841010-86841060	HEEpiC	esophagus:	n/a
35	chr8:86841010-86841060	RPTEC	kidney:	n/a
36	chr8:86840954-86841004	HL-60	blood:	n/a
37	chr8:86840929-86840979	HCT-116	colon:	n/a
38	chr8:86840929-86840979	HRCEpiC	kidney:	n/a
39	chr8:86841010-86841060	CMK	blood:	n/a
40	chr8:86840961-86841011	H1-hESC	embryonic stem cell:	embryo
41	chr8:86840961-86841011	T-47D	breast:	n/a
42	chr8:86841010-86841060	HAEpiC	amniotic membrane:	n/a
43	chr8:86840961-86841011	Caco-2	colon:	n/a
44	chr8:86840929-86840979	SK-N-SH	brain:	n/a
45	chr8:86841010-86841060	HepG2	liver:	n/a
46	chr8:86840961-86841011	AG04450	lung:	fetal
47	chr8:86840954-86841004	BJ	skin:	n/a
48	chr8:86841010-86841060	H1-hESC	embryonic stem cell:	embryo
49	chr8:86840961-86841011	AG04449	skin:	fetal
50	chr8:86840929-86840979	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
REXO1L2P	TF binding region
REXO1L2P	CpG island

Extended variants
information (count: 54 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62511123	chr8:86840888-86840889	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs537535315	chr8:86840900-86840901	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs5024433	chr8:86840905-86840906	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs573949989	chr8:86840912-86840913	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs542658855	chr8:86840914-86840915	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553260974	chr8:86840916-86840917	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573163171	chr8:86840929-86840930	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs545366452	chr8:86840931-86840932	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs550878947	chr8:86840933-86840934	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs111739685	chr8:86840948-86840949	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs188649385	chr8:86840954-86840955	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
12	rs530763178	chr8:86840955-86840956	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs544263599	chr8:86840956-86840957	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
14	rs560844108	chr8:86840957-86840958	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
15	rs529645444	chr8:86840962-86840963	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
16	rs546289103	chr8:86840964-86840965	Inactive region	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
17	rs74538068	chr8:86840977-86840978	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs566171804	chr8:86840978-86840979	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
19	rs528758336	chr8:86840981-86840982	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs569125024	chr8:86841011-86841012	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs139355933	chr8:86841031-86841032	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs537268127	chr8:86841036-86841037	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs192787099	chr8:86841037-86841038	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs567660786	chr8:86841038-86841039	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs536791566	chr8:86841039-86841040	ZNF genes & repeats Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs7387773	chr8:86841065-86841066	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs553397725	chr8:86841081-86841082	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146465094	chr8:86841083-86841084	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538921420	chr8:86841089-86841090	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558908475	chr8:86841102-86841103	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs182396318	chr8:86841118-86841119	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367769209	chr8:86841119-86841120	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544081804	chr8:86841123-86841124	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371892257	chr8:86841134-86841135	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374861375	chr8:86841135-86841136	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369404625	chr8:86841143-86841144	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201063248	chr8:86841150-86841151	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574439226	chr8:86841156-86841157	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553342797	chr8:86841163-86841164	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112431305	chr8:86841171-86841172	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542095474	chr8:86841175-86841176	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs62511140	chr8:86841178-86841179	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531994698	chr8:86841188-86841189	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs149027595	chr8:86841198-86841199	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565239697	chr8:86841206-86841207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11783645	chr8:86841207-86841208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72684812	chr8:86841222-86841223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7018222	chr8:86841229-86841230	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs565232968	chr8:86841236-86841237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532581911	chr8:86841238-86841239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86841000-86841200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:86841000-86844600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:86841000-86845000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:86841200-86841400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:86841200-86842000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:86841200-86842800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:86841200-86844200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:86841200-86845000	Enhancers	Cortex derived primary cultured neurospheres	brain

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