Variant report

Variant	nsv6366
Chromosome Location	chr8:121523828-121530654
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	FOS	chr8:121524764-121525093	MCF10A-Er-Src	breast:	n/a	chr8:121524944-121524953
2	FOS	chr8:121524779-121525085	MCF10A-Er-Src	breast:	n/a	chr8:121524944-121524953
3	FOS	chr8:121524781-121525055	MCF10A-Er-Src	breast:	n/a	chr8:121524944-121524953
4	FOS	chr8:121530450-121530907	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr8:121524781-121525063	MCF10A-Er-Src	breast:	n/a	chr8:121524944-121524953
6	GATA3	chr8:121524963-121525184	SH-SY5Y	brain:	n/a	n/a
7	GATA3	chr8:121527689-121527824	SH-SY5Y	brain:	n/a	n/a
8	IRF1	chr8:121526092-121526207	K562	blood:	n/a	n/a
9	POLR2A	chr8:121526430-121526605	K562	blood:	n/a	n/a
10	POLR2A	chr8:121524066-121524266	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:121527855-121528001	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr8:121525198-121525231	MCF10A-Er-Src	breast:	n/a	n/a
13	RFX5	chr8:121529873-121530008	K562	blood:	n/a	n/a
14	STAT3	chr8:121524758-121525186	MCF10A-Er-Src	breast:	n/a	n/a
15	STAT3	chr8:121524895-121525003	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr8:121524799-121525093	MCF10A-Er-Src	breast:	n/a	n/a
17	STAT3	chr8:121524830-121525130	MCF10A-Er-Src	breast:	n/a	n/a
18	STAT3	chr8:121524795-121525093	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121519851..121521480-chr8:121528320..121530323,2	K562	blood:

Variant related genes	Relation type
MTBP	TF binding region

Extended variants
information (count: 221 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13269329	chr8:121523881-121523882	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs34116636	chr8:121523938-121523939	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs118091064	chr8:121523999-121524000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187321475	chr8:121524008-121524009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs66711862	chr8:121524033-121524034	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs147615370	chr8:121524065-121524066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190235301	chr8:121524094-121524095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553657135	chr8:121524115-121524116	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537556598	chr8:121524128-121524129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116865697	chr8:121524180-121524181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535172015	chr8:121524202-121524203	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539733336	chr8:121524302-121524303	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539457623	chr8:121524312-121524313	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183133334	chr8:121524348-121524349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371391714	chr8:121524353-121524354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs573452152	chr8:121524418-121524419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540799887	chr8:121524419-121524420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562285971	chr8:121524451-121524452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574144089	chr8:121524461-121524462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147071024	chr8:121524471-121524472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10095915	chr8:121524517-121524518	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs533405589	chr8:121524525-121524526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551371767	chr8:121524554-121524555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573015521	chr8:121524671-121524672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560044440	chr8:121524672-121524673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527603095	chr8:121524764-121524765	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs143750018	chr8:121524775-121524776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548726529	chr8:121524801-121524802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs187461852	chr8:121524806-121524807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537540802	chr8:121524830-121524831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558754443	chr8:121524848-121524849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138405834	chr8:121524889-121524890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12548210	chr8:121524892-121524893	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs569320396	chr8:121525086-121525087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79115379	chr8:121525124-121525125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs116359709	chr8:121525135-121525136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567133730	chr8:121525139-121525140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534507145	chr8:121525142-121525143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555951293	chr8:121525148-121525149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374040648	chr8:121525174-121525175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367852702	chr8:121525175-121525176	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563137103	chr8:121525176-121525177	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370431265	chr8:121525207-121525208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375701305	chr8:121525215-121525216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544373717	chr8:121525283-121525284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35713262	chr8:121525304-121525305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370988056	chr8:121525310-121525311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7814949	chr8:121525385-121525386	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs577937916	chr8:121525403-121525404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545359169	chr8:121525439-121525440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
Acute myeloid leukemia	20729466	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
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
Breast cancer	21611746	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
Breast cancer	18698023	CNVD
Multiple myeloma	16461302	CNVD
Uveal melanoma	20484589	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Breast cancer	19181860	CNVD
Endometrial cancer	23636398	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121458800-121539000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:121459000-121528600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:121474600-121553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:121484400-121541800	Weak transcription	Left Ventricle	heart
5	chr8:121488400-121539200	Weak transcription	HSMM	muscle
6	chr8:121491400-121541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:121497200-121534200	Weak transcription	Small Intestine	intestine
8	chr8:121498200-121552400	Weak transcription	Pancreas	Pancrea
9	chr8:121498600-121533200	Weak transcription	HMEC	breast
10	chr8:121498800-121530200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:121499400-121530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:121499400-121550600	Weak transcription	Fetal Kidney	kidney
13	chr8:121499800-121550600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:121500000-121530800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:121500000-121550800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:121500400-121531600	Weak transcription	K562	blood
17	chr8:121501400-121540600	Weak transcription	GM12878-XiMat	blood
18	chr8:121502000-121542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr8:121502200-121541600	Weak transcription	Adipose Nuclei	Adipose
20	chr8:121502200-121546600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:121502400-121526800	Weak transcription	Primary T cells from cord blood	blood
22	chr8:121502400-121527800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:121502400-121530800	Weak transcription	Primary B cells from cord blood	blood
24	chr8:121502400-121541600	Weak transcription	Ovary	ovary
25	chr8:121502400-121542400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:121502400-121550600	Weak transcription	Fetal Intestine Large	intestine
27	chr8:121502600-121530200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:121502800-121528000	Weak transcription	Fetal Thymus	thymus
29	chr8:121502800-121528200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:121502800-121536400	Weak transcription	Hela-S3	cervix
31	chr8:121503200-121563000	Weak transcription	Esophagus	oesophagus
32	chr8:121503400-121542200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:121504200-121527200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr8:121504200-121548200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:121504400-121527400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:121504400-121536800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr8:121504400-121541600	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:121504600-121527600	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr8:121504600-121550400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:121504800-121526800	Weak transcription	Fetal Lung	lung
41	chr8:121507400-121537000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr8:121508600-121541600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:121511000-121533400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:121515600-121528200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:121516000-121541400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:121516200-121528000	Weak transcription	NHDF-Ad	bronchial
47	chr8:121516400-121531000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr8:121518000-121539200	Weak transcription	Osteobl	bone
49	chr8:121518200-121526200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr8:121519800-121562200	Weak transcription	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links