Variant report

Variant	esv14608
Chromosome Location	chr8:47739081-47750528
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:130)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:130 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr8:47742543-47742780	GM12878	blood:	n/a	n/a
2	BATF	chr8:47742058-47742352	GM12878	blood:	n/a	n/a
3	BATF	chr8:47741055-47741204	GM12878	blood:	n/a	n/a
4	BATF	chr8:47742552-47742702	GM12878	blood:	n/a	n/a
5	BATF	chr8:47742166-47742315	GM12878	blood:	n/a	n/a
6	BCL11A	chr8:47741045-47741214	GM12878	blood:	n/a	n/a
7	BCL11A	chr8:47742493-47742715	GM12878	blood:	n/a	n/a
8	BCL11A	chr8:47741063-47741196	GM12878	blood:	n/a	n/a
9	BCL11A	chr8:47742173-47742308	GM12878	blood:	n/a	n/a
10	BCL11A	chr8:47742011-47742327	GM12878	blood:	n/a	n/a
11	BCL11A	chr8:47742558-47742696	GM12878	blood:	n/a	n/a
12	BHLHE40	chr8:47742538-47742866	HepG2	liver:	n/a	n/a
13	BHLHE40	chr8:47741043-47741216	HepG2	liver:	n/a	n/a
14	BHLHE40	chr8:47741998-47742438	HepG2	liver:	n/a	n/a
15	CEBPD	chr8:47742550-47742858	K562	blood:	n/a	n/a
16	EBF1	chr8:47742531-47742706	GM12878	blood:	n/a	n/a
17	EBF1	chr8:47742556-47742800	GM12878	blood:	n/a	n/a
18	EBF1	chr8:47741053-47741207	GM12878	blood:	n/a	n/a
19	EP300	chr8:47742150-47742331	GM12878	blood:	n/a	n/a
20	EP300	chr8:47742529-47742820	GM12878	blood:	n/a	n/a
21	EP300	chr8:47742563-47742690	GM12878	blood:	n/a	n/a
22	FOSL2	chr8:47741001-47741281	HepG2	liver:	n/a	n/a
23	FOSL2	chr8:47742026-47742906	HepG2	liver:	n/a	n/a
24	FOSL2	chr8:47741049-47741210	HepG2	liver:	n/a	n/a
25	FOSL2	chr8:47742158-47742322	HepG2	liver:	n/a	n/a
26	FOSL2	chr8:47742537-47742805	HepG2	liver:	n/a	n/a
27	FOXA1	chr8:47742514-47742733	HepG2	liver:	n/a	n/a
28	GABPA	chr8:47742162-47742318	Hela-S3	cervix:	n/a	n/a
29	GABPA	chr8:47741002-47741257	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr8:47742519-47742798	Hela-S3	cervix:	n/a	n/a
31	GABPA	chr8:47742193-47742287	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr8:47742570-47742676	Hela-S3	cervix:	n/a	n/a
33	GATA2	chr8:47742156-47742329	K562	blood:	n/a	n/a
34	GATA2	chr8:47741043-47741214	K562	blood:	n/a	n/a
35	GATA2	chr8:47742535-47742760	K562	blood:	n/a	n/a
36	HEY1	chr8:47742536-47742820	HepG2	liver:	n/a	n/a
37	HEY1	chr8:47742426-47742713	K562	blood:	n/a	n/a
38	HEY1	chr8:47741077-47741182	HepG2	liver:	n/a	n/a
39	HEY1	chr8:47742061-47742330	HepG2	liver:	n/a	n/a
40	HEY1	chr8:47741041-47741218	HepG2	liver:	n/a	n/a
41	HEY1	chr8:47742572-47742706	HepG2	liver:	n/a	n/a
42	HEY1	chr8:47742187-47742295	HepG2	liver:	n/a	n/a
43	IRF4	chr8:47742425-47742741	GM12878	blood:	n/a	n/a
44	JUND	chr8:47742190-47742287	HepG2	liver:	n/a	n/a
45	JUND	chr8:47742560-47742695	HepG2	liver:	n/a	n/a
46	JUND	chr8:47741066-47741194	HepG2	liver:	n/a	n/a
47	JUND	chr8:47741081-47741178	HepG2	liver:	n/a	n/a
48	JUND	chr8:47742575-47742715	HepG2	liver:	n/a	n/a
49	PAX5	chr8:47741062-47741190	GM12878	blood:	n/a	n/a
50	PAX5	chr8:47742557-47742726	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:47748435-47748485	SK-N-MC	brain:	n/a
2	chr8:47748435-47748485	CMK	blood:	n/a
3	chr8:47748435-47748485	BE2_C	brain:	n/a
4	chr8:47748435-47748485	NB4	blood:	n/a
5	chr8:47748435-47748485	GM12878	blood:	n/a
6	chr8:47748435-47748485	HRCEpiC	kidney:	n/a
7	chr8:47748435-47748485	PFSK-1	brain:	n/a
8	chr8:47748435-47748485	SK-N-SH	brain:	n/a
9	chr8:47748435-47748485	AG04449	skin:	fetal
10	chr8:47748435-47748485	NT2-D1	testis:	n/a
11	chr8:47748435-47748485	HCF	heart:	n/a
12	chr8:47748435-47748485	GM19239	blood:	n/a
13	chr8:47748435-47748485	HRE	kidney:	n/a
14	chr8:47748435-47748485	HEK293	kidney:	embryo
15	chr8:47748435-47748485	PANC-1	pancreas:	n/a
16	chr8:47748435-47748485	PrEC	prostate:	n/a
17	chr8:47748435-47748485	HAEpiC	amniotic membrane:	n/a
18	chr8:47748435-47748485	HUVEC	blood vessel:	n/a
19	chr8:47748435-47748485	HCM	heart:	n/a
20	chr8:47748435-47748485	HEEpiC	esophagus:	n/a
21	chr8:47748435-47748485	Hela-S3	cervix:	n/a
22	chr8:47748435-47748485	AG04450	lung:	fetal
23	chr8:47748435-47748485	IMR90	lung:	fetal
24	chr8:47748435-47748485	MCF10A-Er-Src	breast:	n/a
25	chr8:47748435-47748485	BJ	skin:	n/a
26	chr8:47748435-47748485	LNCaP	prostate:	n/a
27	chr8:47748435-47748485	HCT-116	colon:	n/a
28	chr8:47748435-47748485	SAEC	small airway:	n/a
29	chr8:47748435-47748485	HMEC	breast:	n/a
30	chr8:47748435-47748485	SK-N-SH_RA	brain:	n/a
31	chr8:47748435-47748485	A549	lung:	n/a
32	chr8:47748435-47748485	T-47D	breast:	n/a
33	chr8:47748435-47748485	Caco-2	colon:	n/a
34	chr8:47748435-47748485	ProgFib	skin:	n/a
35	chr8:47748435-47748485	GM06990	blood:	n/a
36	chr8:47748435-47748485	GM12892	blood:	n/a
37	chr8:47748435-47748485	HIPEpiC	eye:	n/a
38	chr8:47748435-47748485	AoSMC	blood vessel:	n/a
39	chr8:47748435-47748485	MCF-7	breast:	n/a
40	chr8:47748435-47748485	HNPCEpiC	eye:	n/a
41	chr8:47748435-47748485	NHBE	bronchial:	n/a
42	chr8:47748435-47748485	NH-A	brain:	n/a
43	chr8:47748435-47748485	Jurkat	blood:	n/a
44	chr8:47748435-47748485	GM12891	blood:	n/a
45	chr8:47748435-47748485	HRPEpiC	eye:	n/a
46	chr8:47748435-47748485	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:47748435-47748485	SKMC	muscle:	n/a
48	chr8:47748435-47748485	ECC-1	luminal epithelium:	n/a
49	chr8:47748435-47748485	Hepatocyte	liver:	n/a
50	chr8:47748435-47748485	NHDF-neo	bronchial:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1134I14.8.1-3	chr8:47748371-47748420	NONHSAT126415
2	lnc-RP11-1134I14.8.1-3	chr8:47748364-47748420	ENSG00000253314.1
3	lnc-RP11-1134I14.8.1-8	chr8:47750410-47750827	NONHSAT126417
4	lnc-RP11-350F16.2.1-4	chr8:47749200-47750328	NONHSAT126416
5	lnc-RP11-350F16.2.1-5	chr8:47738850-47740031	NONHSAT126413

No data

Variant related genes	Relation type
MTND1P7	TF binding region
MTND6P20	TF binding region
LINC00293	TF binding region
RNU6-656P	TF binding region
ENSG00000254118	TF binding region
MTND1P7	CpG island
MTND6P20	CpG island
LINC00293	CpG island
RNU6-656P	CpG island
ENSG00000254118	CpG island

Extended variants
information (count: 170 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372565559	chr8:47739085-47739086	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs1916185	chr8:47739090-47739091	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs377250230	chr8:47739097-47739098	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs565697545	chr8:47739106-47739107	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs554420546	chr8:47739143-47739144	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs539085869	chr8:47739170-47739171	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs369958564	chr8:47739215-47739216	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs374123534	chr8:47739253-47739254	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs575743367	chr8:47739265-47739266	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs534072349	chr8:47739301-47739302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs554287211	chr8:47739359-47739360	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs573846035	chr8:47739367-47739368	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs377685117	chr8:47739400-47739401	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs7835054	chr8:47739402-47739403	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7842744	chr8:47739427-47739428	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs533329401	chr8:47739435-47739436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs546186377	chr8:47739467-47739468	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs556918576	chr8:47739488-47739489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs141095223	chr8:47739538-47739539	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563729781	chr8:47739557-47739558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs531030007	chr8:47739563-47739564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs17061734	chr8:47739589-47739590	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190223138	chr8:47739590-47739591	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs561563971	chr8:47739727-47739728	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs17061737	chr8:47739731-47739732	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs571262184	chr8:47739798-47739799	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs547245635	chr8:47739810-47739811	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs143204733	chr8:47739835-47739836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs151239504	chr8:47739840-47739841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs990760	chr8:47739851-47739852	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs140457746	chr8:47739855-47739856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs536792854	chr8:47739873-47739874	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs555124747	chr8:47739891-47739892	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs182155062	chr8:47739933-47739934	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs534537264	chr8:47739938-47739939	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs553196255	chr8:47739999-47740000	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs114732366	chr8:47740002-47740003	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs187101701	chr8:47741080-47741081	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs568209727	chr8:47741082-47741083	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs369545006	chr8:47741094-47741095	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs536602814	chr8:47741163-47741164	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs554714490	chr8:47741176-47741177	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs573280973	chr8:47741207-47741208	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs144847587	chr8:47741221-47741222	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs116166435	chr8:47741225-47741226	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs540408593	chr8:47741234-47741235	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs113112299	chr8:47741237-47741238	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs576992599	chr8:47741290-47741291	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs544415251	chr8:47741306-47741307	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs189415754	chr8:47741999-47742000	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Oral cancer	21386901	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
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	20409316	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
Tetralogy of Fallot	22912587	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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