Variant report

Variant	nsv981946
Chromosome Location	chr8:62113798-62116324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:62115112-62115375	GM12878	blood:	n/a	n/a
2	BATF	chr8:62115085-62115367	GM12878	blood:	n/a	n/a
3	BCL11A	chr8:62115057-62115356	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:62114990-62115367	GM12878	blood:	n/a	n/a
5	CBX3	chr8:62114261-62114536	K562	blood:	n/a	n/a
6	CTCF	chr8:62114817-62115006	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr8:62114839-62114972	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr8:62114790-62115049	H1-hESC	embryonic stem cell:	n/a	n/a
9	EBF1	chr8:62114946-62115217	GM12878	blood:	n/a	n/a
10	MAFK	chr8:62115460-62115494	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:62114978-62115378	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:62115699-62116037	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:62115794-62116066	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr8:62114918-62114993	GM12878	blood:	n/a	n/a
15	POU2F2	chr8:62114937-62115358	GM12878	blood:	n/a	n/a
16	RAD21	chr8:62114731-62115043	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr8:62114745-62115019	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr8:62114664-62115070	H1-hESC	embryonic stem cell:	n/a	n/a
19	SPI1	chr8:62115141-62115417	GM12891	blood:	n/a	n/a
20	SPI1	chr8:62115099-62115377	GM12878	blood:	n/a	n/a
21	SPI1	chr8:62115162-62115402	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62112094..62114817-chr8:62114903..62119963,4	K562	blood:

No data

Variant related genes	Relation type
NPM1P6	TF binding region
ENSG00000213881	chromatin interactions

Extended variants
information (count: 44 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57687784	chr8:62113931-62113932	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs373618787	chr8:62114002-62114003	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs33998451	chr8:62114035-62114036	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534390679	chr8:62114063-62114064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs59758730	chr8:62114068-62114069	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs567849193	chr8:62114071-62114072	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs181342368	chr8:62114072-62114073	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529508717	chr8:62114096-62114097	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs185426672	chr8:62114165-62114166	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2931323	chr8:62114188-62114189	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs534677769	chr8:62114191-62114192	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs139061842	chr8:62114196-62114197	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559009090	chr8:62114216-62114217	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs545081251	chr8:62114268-62114269	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553802185	chr8:62114269-62114270	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201763967	chr8:62114293-62114294	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572251413	chr8:62114355-62114356	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571569441	chr8:62114358-62114359	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540027354	chr8:62114371-62114372	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs199680284	chr8:62114378-62114379	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561578807	chr8:62114478-62114479	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537512604	chr8:62114504-62114505	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs2931324	chr8:62114519-62114520	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573778229	chr8:62114528-62114529	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs2931325	chr8:62114529-62114530	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs112494328	chr8:62114533-62114534	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs573144899	chr8:62114555-62114556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs142952913	chr8:62114566-62114567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560282244	chr8:62114603-62114604	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149364119	chr8:62114626-62114627	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs59579308	chr8:62114644-62114645	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567820146	chr8:62114674-62114675	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs191717853	chr8:62114744-62114745	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs550408838	chr8:62114766-62114767	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs141290383	chr8:62114770-62114771	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183584785	chr8:62114840-62114841	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2931326	chr8:62114861-62114862	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188874980	chr8:62114871-62114872	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536373149	chr8:62114874-62114875	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs554662386	chr8:62114877-62114878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs370894666	chr8:62114879-62114880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs573742245	chr8:62114896-62114897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs573821182	chr8:62114897-62114898	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542455852	chr8:62114909-62114910	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Disorders of sex development	21048976	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
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
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

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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