Variant report

Variant	esv2754301
Chromosome Location	chr8:20823020-20840820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr8:20836598-20836879	GM12878	blood:	n/a	n/a
2	CEBPB	chr8:20830066-20830350	HepG2	liver:	n/a	chr8:20830220-20830231
3	CEBPB	chr8:20830191-20830296	H1-hESC	embryonic stem cell:	n/a	chr8:20830220-20830231
4	CEBPB	chr8:20840086-20840263	HepG2	liver:	n/a	chr8:20840222-20840233
5	IRF1	chr8:20823048-20823244	K562	blood:	n/a	n/a
6	MAFF	chr8:20832353-20832441	K562	blood:	n/a	chr8:20832412-20832430
7	MAFF	chr8:20832300-20832477	HepG2	liver:	n/a	chr8:20832412-20832430
8	MAFF	chr8:20828578-20828945	HepG2	liver:	n/a	chr8:20828753-20828767 chr8:20828754-20828772
9	MAFF	chr8:20828576-20828940	K562	blood:	n/a	chr8:20828753-20828767 chr8:20828754-20828772
10	MAFK	chr8:20828612-20828929	Hela-S3	cervix:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
11	MAFK	chr8:20828585-20828945	K562	blood:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
12	MAFK	chr8:20828575-20828946	IMR90	lung:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
13	MAFK	chr8:20828573-20828932	HepG2	liver:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
14	MAFK	chr8:20832275-20832476	HepG2	liver:	n/a	chr8:20832414-20832425 chr8:20832415-20832426 chr8:20832414-20832429 chr8:20832414-20832430 chr8:20832413-20832427 chr8:20832414-20832425
15	MAFK	chr8:20828548-20829036	GM12878	blood:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
16	MAFK	chr8:20828575-20828947	HepG2	liver:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
17	MAFK	chr8:20832279-20832573	HepG2	liver:	n/a	chr8:20832414-20832425 chr8:20832415-20832426 chr8:20832414-20832429 chr8:20832414-20832430 chr8:20832413-20832427 chr8:20832414-20832425
18	MAFK	chr8:20828592-20828901	H1-hESC	embryonic stem cell:	n/a	chr8:20828750-20828770 chr8:20828760-20828771 chr8:20828752-20828768 chr8:20828755-20828770 chr8:20828753-20828767 chr8:20828760-20828771
19	NFATC1	chr8:20836526-20836895	GM12878	blood:	n/a	n/a
20	NR2F2	chr8:20827918-20828267	MCF-7	breast:	n/a	n/a
21	PBX3	chr8:20836645-20836839	GM12878	blood:	n/a	n/a
22	POLR2A	chr8:20840001-20840443	H1-neurons	neurons:	n/a	n/a
23	POLR2A	chr8:20832026-20832050	GM12878	blood:	n/a	n/a
24	POLR2A	chr8:20835733-20835816	GM12878	blood:	n/a	n/a
25	POLR2A	chr8:20839889-20840434	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr8:20833222-20833324	ProgFib	skin:	n/a	n/a
27	REST	chr8:20839780-20840680	H1-neurons	neurons:	n/a	chr8:20840037-20840051 chr8:20840032-20840050
28	REST	chr8:20839970-20840507	H1-neurons	neurons:	n/a	chr8:20840037-20840051 chr8:20840032-20840050

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:20839365..20841858-chr8:20843930..20846390,2	K562	blood:
2	chr8:20831135..20833950-chr8:20835824..20837842,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1B2-5	chr8:20832315-20832533	XLOC_006734
2	lnc-ATP6V1B2-5	chr8:20826298-20826482	NONHSAT125418
3	lnc-LZTS1-2	chr8:20831244-20831388	ENSG00000254092
4	lnc-ATP6V1B2-5	chr8:20825695-20826830	NONHSAT125407
5	lnc-ATP6V1B2-5	chr8:20832315-20832514	XLOC_006734
6	lnc-ATP6V1B2-5	chr8:20832315-20832531	NONHSAT125421
7	lnc-ATP6V1B2-5	chr8:20826298-20826830	XLOC_006734
8	lnc-ATP6V1B2-5	chr8:20831433-20831509	NONHSAT125421
9	lnc-ATP6V1B2-5	chr8:20831248-20831509	XLOC_006734
10	lnc-ATP6V1B2-5	chr8:20826298-20826415	ENSG00000253147
11	lnc-ATP6V1B2-5	chr8:20831497-20832164	XLOC_006734
12	lnc-ATP6V1B2-5	chr8:20831308-20832033	ENSG00000253199
13	lnc-ATP6V1B2-5	chr8:20826298-20826415	ENSG00000254026
14	lnc-ATP6V1B2-5	chr8:20826298-20826427	XLOC_006734
15	lnc-ATP6V1B2-5	chr8:20832315-20832540	ENSG00000253199
16	lnc-ATP6V1B2-5	chr8:20831896-20832033	XLOC_006734
17	lnc-ATP6V1B2-5	chr8:20831913-20832033	NONHSAT125421
18	lnc-ATP6V1B2-5	chr8:20831860-20832033	XLOC_006734

Variant related genes	Relation type
ENSG00000253199	TF binding region
ENSG00000254092	TF binding region
ENSG00000254092	chromatin interactions
ENSG00000253199	chromatin interactions
BMPR2	miRNA target sites
TP53	miRNA target sites
LDLR	miRNA target sites

Extended variants
information (count: 723 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs494338	chr8:20823048-20823049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141368685	chr8:20823058-20823059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184910964	chr8:20823081-20823082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs35310730	chr8:20823093-20823094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567405829	chr8:20823134-20823135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534814935	chr8:20823142-20823143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553470198	chr8:20823162-20823163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571404135	chr8:20823169-20823170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189286656	chr8:20823250-20823251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556919534	chr8:20823252-20823253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575547734	chr8:20823265-20823266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543279185	chr8:20823384-20823385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73631063	chr8:20823442-20823443	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573346397	chr8:20823465-20823466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182166299	chr8:20823471-20823472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559539637	chr8:20823480-20823481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs145043542	chr8:20823530-20823531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577389886	chr8:20823583-20823584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549634603	chr8:20823597-20823598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184307764	chr8:20823616-20823617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs530715088	chr8:20823622-20823623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560607300	chr8:20823632-20823633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549217301	chr8:20823644-20823645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148337312	chr8:20823656-20823657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528333028	chr8:20823660-20823661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546367659	chr8:20823662-20823663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189261516	chr8:20823679-20823680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548289803	chr8:20823716-20823717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538711174	chr8:20823782-20823783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181237587	chr8:20823783-20823784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568866644	chr8:20823811-20823812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs141410051	chr8:20823846-20823847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555285115	chr8:20823871-20823872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150406004	chr8:20823943-20823944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540853423	chr8:20823948-20823949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559182016	chr8:20823954-20823955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs115532708	chr8:20823971-20823972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569866020	chr8:20824017-20824018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs79742990	chr8:20824060-20824061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372629423	chr8:20824072-20824073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530565140	chr8:20824104-20824105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542251883	chr8:20824108-20824109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561263823	chr8:20824124-20824125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138620819	chr8:20824130-20824131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185631591	chr8:20824176-20824177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142918957	chr8:20824185-20824186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532473821	chr8:20824209-20824210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147396243	chr8:20824222-20824223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569242880	chr8:20824226-20824227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536697777	chr8:20824235-20824236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

Disease	PMID	Source
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	22083797	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17603634	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21364760	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cancer	18840272	CNVD
Breast cancer	19602461	CNVD
Osteosarcoma	19286668	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	19258508	CNVD
small cell lung cancer	20016488	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Gastric adenocarcinoma	19115996	CNVD
Colorectal cancer	19455253	CNVD
Melanoma	20688739	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20813800-20828800	Weak transcription	Liver	Liver
2	chr8:20827200-20829000	Enhancers	Stomach Mucosa	stomach
3	chr8:20827600-20831600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:20828600-20828800	Enhancers	Gastric	stomach
5	chr8:20828600-20830400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:20828600-20831000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:20829200-20830800	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:20829400-20830000	Enhancers	Primary T cells from cord blood	blood
9	chr8:20829400-20830000	Enhancers	Fetal Thymus	thymus
10	chr8:20829400-20830200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:20829400-20830800	Enhancers	Brain Cingulate Gyrus	brain
12	chr8:20829600-20830000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:20829600-20830000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:20829600-20830000	Bivalent Enhancer	Brain Substantia Nigra	brain
15	chr8:20829600-20830600	Enhancers	Brain Anterior Caudate	brain
16	chr8:20829600-20831000	Enhancers	Brain Hippocampus Middle	brain
17	chr8:20829800-20830200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:20829800-20830400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:20829800-20830400	Enhancers	Brain Angular Gyrus	brain
20	chr8:20829800-20830800	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr8:20829800-20831200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:20830000-20830400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr8:20830000-20830600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:20830000-20830800	Enhancers	Brain Substantia Nigra	brain
25	chr8:20830800-20834600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr8:20833800-20834400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:20833800-20835400	Enhancers	Fetal Brain Male	brain
28	chr8:20834000-20834400	Enhancers	Brain Germinal Matrix	brain
29	chr8:20834000-20834800	Enhancers	Fetal Brain Female	brain
30	chr8:20834400-20835400	Enhancers	Spleen	Spleen
31	chr8:20834600-20834800	Enhancers	Brain Hippocampus Middle	brain
32	chr8:20834600-20835400	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:20835000-20835600	Enhancers	Fetal Lung	lung
34	chr8:20835600-20835800	Bivalent Enhancer	Fetal Lung	lung
35	chr8:20840200-20840600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links