Variant report

Variant	nsv527841
Chromosome Location	chr8:5876111-5899173
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	BRCA1	chr8:5875790-5876111	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr8:5883252-5883353	A549	lung:	n/a	n/a
3	CEBPB	chr8:5875401-5876188	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr8:5879099-5879536	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr8:5877716-5878268	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr8:5877874-5878141	Hela-S3	cervix:	n/a	n/a
7	E2F4	chr8:5875844-5876257	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr8:5877798-5878239	Hela-S3	cervix:	n/a	n/a
9	EP300	chr8:5875806-5876202	Hela-S3	cervix:	n/a	n/a
10	FOS	chr8:5875788-5876231	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr8:5875765-5876227	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr8:5879243-5879374	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:5879243-5879377	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr8:5879216-5879445	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr8:5877800-5878230	MCF10A-Er-Src	breast:	n/a	chr8:5878050-5878060
16	FOS	chr8:5877828-5878146	MCF10A-Er-Src	breast:	n/a	chr8:5878050-5878060
17	FOS	chr8:5875795-5876245	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr8:5875765-5876258	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr8:5877828-5878232	MCF10A-Er-Src	breast:	n/a	chr8:5878050-5878060
20	FOSL2	chr8:5875751-5876295	SK-N-SH	brain:	n/a	n/a
21	GATA1	chr8:5875206-5876191	PBDE	blood:	n/a	chr8:5875534-5875550
22	GTF2F1	chr8:5877825-5878410	Hela-S3	cervix:	n/a	n/a
23	JUN	chr8:5875774-5876220	Hela-S3	cervix:	n/a	n/a
24	JUND	chr8:5875431-5876248	Hela-S3	cervix:	n/a	n/a
25	MAX	chr8:5877811-5878130	Hela-S3	cervix:	n/a	n/a
26	MAZ	chr8:5892231-5892294	GM12878	blood:	n/a	n/a
27	MYC	chr8:5877841-5878202	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr8:5877844-5878150	MCF10A-Er-Src	breast:	n/a	n/a
29	MYC	chr8:5875770-5876246	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr8:5875790-5876242	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr8:5883876-5884127	MCF10A-Er-Src	breast:	n/a	n/a
32	POLR2A	chr8:5877336-5877427	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr8:5875644-5876291	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr8:5876081-5876245	MCF10A-Er-Src	breast:	n/a	n/a
35	POLR2A	chr8:5877179-5877226	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr8:5876990-5877039	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:5892069-5892564	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr8:5898661-5898675	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr8:5881531-5881655	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr8:5877953-5878088	MCF10A-Er-Src	breast:	n/a	n/a
41	RAD21	chr8:5877837-5878166	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr8:5875329-5876135	Hela-S3	cervix:	n/a	n/a
43	RCOR1	chr8:5875778-5876231	Hela-S3	cervix:	n/a	n/a
44	RCOR1	chr8:5877730-5878204	Hela-S3	cervix:	n/a	n/a
45	SMC3	chr8:5877902-5878220	Hela-S3	cervix:	n/a	n/a
46	SMC3	chr8:5879139-5879462	Hela-S3	cervix:	n/a	chr8:5879440-5879450
47	SPI1	chr8:5891976-5892129	K562	blood:	n/a	chr8:5892054-5892067 chr8:5892053-5892066
48	SPI1	chr8:5891952-5892247	HL-60	blood:	n/a	chr8:5892054-5892067 chr8:5892053-5892066
49	SPI1	chr8:5891943-5892231	HL-60	blood:	n/a	chr8:5892054-5892067 chr8:5892053-5892066
50	SRF	chr8:5875831-5876289	ECC-1	luminal epithelium:	n/a	chr8:5876052-5876066 chr8:5876048-5876066 chr8:5876052-5876063 chr8:5876048-5876065 chr8:5876052-5876061 chr8:5876051-5876062 chr8:5876051-5876065 chr8:5876050-5876063

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANGPT2-4	chr8:5894372-5894496	ENSG00000253189
2	lnc-ANGPT2-4	chr8:5893955-5893990	ENSG00000253189
3	lnc-ANGPT2-4	chr8:5894123-5894292	ENSG00000253189

Variant related genes	Relation type
ENSG00000253189	TF binding region

Extended variants
information (count: 884 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:884 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11985492	chr8:5876111-5876112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530435919	chr8:5876120-5876121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545306062	chr8:5876142-5876143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568891268	chr8:5876145-5876146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17075799	chr8:5876147-5876148	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs562269913	chr8:5876153-5876154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116045238	chr8:5876160-5876161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547699038	chr8:5876161-5876162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377458806	chr8:5876194-5876195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs192504715	chr8:5876222-5876223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527707500	chr8:5876262-5876263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35576310	chr8:5876291-5876292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369596973	chr8:5876292-5876293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35955537	chr8:5876295-5876296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10552813	chr8:5876302-5876303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76872306	chr8:5876304-5876305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75085138	chr8:5876307-5876308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567436749	chr8:5876308-5876309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539977445	chr8:5876312-5876313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551913247	chr8:5876327-5876328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146503812	chr8:5876339-5876340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182543012	chr8:5876346-5876347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7840828	chr8:5876374-5876375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs111303359	chr8:5876377-5876378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs534897416	chr8:5876383-5876384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552939887	chr8:5876388-5876389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74993509	chr8:5876396-5876397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577761362	chr8:5876409-5876410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77364859	chr8:5876414-5876415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148243971	chr8:5876420-5876421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78414615	chr8:5876425-5876426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76128058	chr8:5876429-5876430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75573731	chr8:5876432-5876433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs75276396	chr8:5876445-5876446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75383804	chr8:5876460-5876461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75496333	chr8:5876464-5876465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186634470	chr8:5876477-5876478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77844580	chr8:5876486-5876487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77151715	chr8:5876491-5876492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79823402	chr8:5876493-5876494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571721945	chr8:5876510-5876511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2840427	chr8:5876515-5876516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529604337	chr8:5876549-5876550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs117495103	chr8:5876552-5876553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559753646	chr8:5876558-5876559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533568709	chr8:5876565-5876566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551976351	chr8:5876593-5876594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34369173	chr8:5876599-5876600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570178491	chr8:5876608-5876609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115760921	chr8:5876634-5876635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	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
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	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
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5874400-5876800	Enhancers	Fetal Heart	heart
2	chr8:5874800-5876400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:5874800-5876600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:5874800-5876600	Enhancers	HMEC	breast
5	chr8:5875000-5876600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:5875000-5878200	Enhancers	NHEK	skin
7	chr8:5875000-5878800	Enhancers	HUVEC	blood vessel
8	chr8:5875000-5879000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:5875000-5879800	Enhancers	Hela-S3	cervix
10	chr8:5875200-5876200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:5875800-5876200	Enhancers	Osteobl	bone
12	chr8:5875800-5876600	Enhancers	NHLF	lung
13	chr8:5876000-5876600	Enhancers	NH-A	brain
14	chr8:5876000-5877200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:5876000-5878000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:5876400-5876600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:5876400-5876600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:5876600-5877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:5876600-5877400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:5876600-5878600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:5876800-5878600	Weak transcription	Fetal Heart	heart
22	chr8:5877200-5878400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:5877400-5877600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:5877400-5878000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:5878000-5878200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr8:5878000-5879000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:5878200-5878400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:5878600-5880000	Enhancers	Fetal Heart	heart
29	chr8:5879000-5879400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:5879000-5879600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:5879000-5879600	Enhancers	Brain Germinal Matrix	brain
32	chr8:5879200-5879400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:5879200-5879600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr8:5879400-5879600	Enhancers	Pancreas	Pancrea
35	chr8:5882800-5883000	Enhancers	Gastric	stomach
36	chr8:5883000-5883200	ZNF genes & repeats	Gastric	stomach
37	chr8:5885400-5886200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr8:5885600-5886000	Enhancers	Fetal Kidney	kidney
39	chr8:5885600-5887200	Enhancers	Fetal Brain Male	brain
40	chr8:5887200-5890600	Weak transcription	Fetal Brain Male	brain
41	chr8:5890600-5892200	Enhancers	Fetal Brain Male	brain
42	chr8:5892200-5892800	Weak transcription	Fetal Brain Male	brain
43	chr8:5892800-5894200	Enhancers	Fetal Brain Male	brain
44	chr8:5893800-5894000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr8:5898400-5898600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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