Variant report

Variant	nsv972224
Chromosome Location	chr8:124938289-124945547
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	ATF3	chr8:124940522-124940729	K562	blood:	n/a	n/a
2	CBX3	chr8:124940433-124940765	K562	blood:	n/a	n/a
3	CBX3	chr8:124940322-124940818	K562	blood:	n/a	n/a
4	CTCF	chr8:124941703-124941756	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr8:124941691-124941737	GM13976	blood:	n/a	n/a
6	JUN	chr8:124944966-124945000	H1-hESC	embryonic stem cell:	n/a	n/a
7	JUND	chr8:124943875-124944033	HepG2	liver:	n/a	chr8:124943938-124943947
8	KAP1	chr8:124939238-124939689	HEK293	kidney:	n/a	n/a
9	KAP1	chr8:124939279-124939859	U2OS	brain:	n/a	n/a
10	KAP1	chr8:124940329-124940745	K562	blood:	n/a	n/a
11	MAZ	chr8:124939891-124939904	HepG2	liver:	n/a	n/a
12	MYC	chr8:124938716-124938750	K562	blood:	n/a	n/a
13	NFYB	chr8:124940487-124940770	K562	blood:	n/a	n/a
14	POLR2A	chr8:124939233-124939740	U87	brain:	n/a	n/a
15	POLR2A	chr8:124938604-124938696	GM12878	blood:	n/a	n/a
16	SETDB1	chr8:124940234-124940832	U2OS	brain:	n/a	n/a
17	SPI1	chr8:124941552-124941983	HL-60	blood:	n/a	n/a
18	SPI1	chr8:124943487-124943657	K562	blood:	n/a	chr8:124943579-124943592 chr8:124943582-124943589 chr8:124943577-124943586 chr8:124943581-124943590 chr8:124943580-124943593
19	SPI1	chr8:124943459-124943732	GM12891	blood:	n/a	chr8:124943579-124943592 chr8:124943582-124943589 chr8:124943577-124943586 chr8:124943581-124943590 chr8:124943580-124943593
20	SPI1	chr8:124943414-124943703	K562	blood:	n/a	chr8:124943579-124943592 chr8:124943582-124943589 chr8:124943577-124943586 chr8:124943581-124943590 chr8:124943580-124943593
21	SPI1	chr8:124941697-124941836	K562	blood:	n/a	n/a
22	SPI1	chr8:124943461-124943752	GM12891	blood:	n/a	chr8:124943579-124943592 chr8:124943582-124943589 chr8:124943577-124943586 chr8:124943581-124943590 chr8:124943580-124943593
23	STAT3	chr8:124941254-124941310	MCF10A-Er-Src	breast:	n/a	n/a
24	TRIM28	chr8:124940407-124940812	K562	blood:	n/a	n/a
25	USF1	chr8:124940462-124940711	A549	lung:	n/a	n/a
26	USF1	chr8:124940344-124940780	K562	blood:	n/a	n/a
27	USF1	chr8:124940416-124940751	H1-hESC	embryonic stem cell:	n/a	n/a
28	USF1	chr8:124940432-124940770	H1-hESC	embryonic stem cell:	n/a	n/a
29	USF2	chr8:124940558-124940627	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124934471..124936352-chr8:124945543..124948252,2	K562	blood:
2	chr8:124938106..124940433-chr8:124943541..124946021,2	MCF-7	breast:
3	chr8:124941483..124942084-chr8:125018247..125019468,3	MCF-7	breast:
4	chr8:124940520..124943844-chr8:124961774..124964853,3	MCF-7	breast:
5	chr8:124934852..124937473-chr8:124945543..124947894,2	K562	blood:
6	chr8:124942199..124944103-chr8:124945407..124947140,2	K562	blood:
7	chr8:124942199..124944103-chr8:124945407..124947140,2	K562	blood:

Variant related genes	Relation type
ENSG00000254000	TF binding region
ENSG00000254000	chromatin interactions

Extended variants
information (count: 303 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559469549	chr8:124938317-124938318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78756489	chr8:124938328-124938329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565785101	chr8:124938386-124938387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4871429	chr8:124938412-124938413	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs139375701	chr8:124938454-124938455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561710251	chr8:124938462-124938463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190494129	chr8:124938494-124938495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs4871430	chr8:124938496-124938497	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs36044469	chr8:124938551-124938552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559588581	chr8:124938555-124938556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567038342	chr8:124938560-124938561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74751909	chr8:124938596-124938597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549476431	chr8:124938599-124938600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371753559	chr8:124938649-124938650	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569421224	chr8:124938656-124938657	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs35365805	chr8:124938675-124938676	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs375486323	chr8:124938681-124938682	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558094007	chr8:124938694-124938695	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534665223	chr8:124938695-124938696	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182470663	chr8:124938705-124938706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144155644	chr8:124938709-124938710	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572679345	chr8:124938713-124938714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35675460	chr8:124938732-124938733	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs117410953	chr8:124938760-124938761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574950822	chr8:124938782-124938783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs16899052	chr8:124938810-124938811	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186583498	chr8:124938852-124938853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs532003583	chr8:124938863-124938864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531011331	chr8:124938871-124938872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4637809	chr8:124938907-124938908	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560798833	chr8:124938923-124938924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529507806	chr8:124938928-124938929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs62518695	chr8:124938935-124938936	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs370010105	chr8:124938973-124938974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62518696	chr8:124939007-124939008	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs146408872	chr8:124939036-124939037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs190652427	chr8:124939053-124939054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571599980	chr8:124939067-124939068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533966960	chr8:124939069-124939070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181274099	chr8:124939129-124939130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs386729530	chr8:124939167-124939168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72709124	chr8:124939168-124939169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs538893894	chr8:124939172-124939173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140796674	chr8:124939204-124939205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575372631	chr8:124939219-124939220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34476367	chr8:124939260-124939261	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs544261653	chr8:124939293-124939294	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs557509662	chr8:124939306-124939307	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs576093513	chr8:124939318-124939319	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs577545248	chr8:124939336-124939337	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:143)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Schizophrenia	23813976	CNVD
Gastric cancer	18160780	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124934800-124938600	Weak transcription	Left Ventricle	heart
2	chr8:124934800-124939000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr8:124934800-124939600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:124935000-124938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124935200-124938800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr8:124935400-124938600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:124935400-124942800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:124935800-124939200	Weak transcription	Fetal Intestine Small	intestine
9	chr8:124936600-124938400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:124936800-124940200	Enhancers	NHDF-Ad	bronchial
11	chr8:124937000-124938400	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:124937000-124938600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:124937000-124938800	Enhancers	HUVEC	blood vessel
14	chr8:124937200-124940200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:124937400-124938800	Enhancers	Brain Germinal Matrix	brain
16	chr8:124937600-124939000	Enhancers	Fetal Heart	heart
17	chr8:124937800-124938800	Enhancers	Stomach Mucosa	stomach
18	chr8:124938000-124938400	Weak transcription	Osteobl	bone
19	chr8:124938200-124938400	Enhancers	Placenta	Placenta
20	chr8:124938400-124939800	Enhancers	Osteobl	bone
21	chr8:124938600-124938800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:124938600-124938800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:124938600-124938800	Enhancers	Left Ventricle	heart
24	chr8:124938800-124939000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:124938800-124940600	Weak transcription	Stomach Mucosa	stomach
26	chr8:124939000-124939800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:124939600-124940200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:124940200-124940600	Weak transcription	NHDF-Ad	bronchial
29	chr8:124940200-124941400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:124940600-124940800	ZNF genes & repeats	NHDF-Ad	bronchial
31	chr8:124940600-124944000	Enhancers	Stomach Mucosa	stomach
32	chr8:124941400-124942600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:124941600-124943600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr8:124941600-124945600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:124941800-124943800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:124942000-124942800	Weak transcription	NHDF-Ad	bronchial
37	chr8:124942000-124943000	Enhancers	Primary hematopoietic stem cells	blood
38	chr8:124942600-124944000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:124942800-124943800	Enhancers	NHDF-Ad	bronchial
40	chr8:124943000-124943200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr8:124943000-124943200	Bivalent Enhancer	Small Intestine	intestine
42	chr8:124943400-124943600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:124943400-124943600	Enhancers	Placenta	Placenta
44	chr8:124943400-124944000	Enhancers	Brain Substantia Nigra	brain
45	chr8:124943600-124944000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:124943600-124944600	Enhancers	Ovary	ovary
47	chr8:124943800-124944800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:124944000-124944200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:124944000-124945800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:124944000-124947800	Weak transcription	Stomach Mucosa	stomach

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