Variant report

Variant	esv3374649
Chromosome Location	chr8:130507170-130510618
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	GABPA	chr8:130510000-130514386	HL-60	blood:	n/a	n/a
2	POLR2A	chr8:130508821-130508984	K562	blood:	n/a	n/a
3	POLR2A	chr8:130509476-130509554	K562	blood:	n/a	n/a
4	STAT3	chr8:130507112-130507201	MCF10A-Er-Src	breast:	n/a	n/a
5	ZNF274	chr8:130509726-130509949	K562	blood:	n/a	n/a
6	ZNF274	chr8:130508519-130508728	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:75820631..75821304-chr8:130510371..130511036,2	MCF-7	breast:

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3673	chr8:130508099-130508119	MIMAT0018096
hsa-miR-3669	chr8:130509599-130509621	MIMAT0018092

Variant related genes	Relation type
ENSG00000265687	TF binding region
ENSG00000266096	TF binding region
ENSG00000264680	TF binding region
ENSG00000266387	TF binding region
ENSG00000265513	TF binding region
ENSG00000265219	TF binding region

Extended variants
information (count: 218 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs550916063	chr8:130507232-130507233	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs74609377	chr8:130507233-130507234	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs371655354	chr8:130507238-130507239	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs554582054	chr8:130507250-130507251	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566727907	chr8:130507260-130507261	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs191958351	chr8:130507345-130507346	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs558626381	chr8:130507389-130507390	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs117119289	chr8:130507486-130507487	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs544006009	chr8:130507528-130507529	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569312887	chr8:130507554-130507555	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs544645347	chr8:130507566-130507567	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs115055109	chr8:130507599-130507600	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs184383083	chr8:130507712-130507713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189261666	chr8:130507719-130507720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs528022075	chr8:130507735-130507736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs546076122	chr8:130507736-130507737	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564171835	chr8:130507752-130507753	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs531575874	chr8:130507773-130507774	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs139081700	chr8:130507830-130507831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200404640	chr8:130507831-130507832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139607095	chr8:130507841-130507842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550028092	chr8:130507860-130507861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201494142	chr8:130507866-130507867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375102301	chr8:130507875-130507876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368024689	chr8:130507881-130507882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368510030	chr8:130507889-130507890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111510842	chr8:130507894-130507895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112837985	chr8:130507903-130507904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147849054	chr8:130507904-130507905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113196911	chr8:130507915-130507916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113094171	chr8:130507924-130507925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200080737	chr8:130507934-130507935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537229272	chr8:130507935-130507936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566917985	chr8:130507940-130507941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189330339	chr8:130507944-130507945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs180943516	chr8:130507954-130507955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553261196	chr8:130507963-130507964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185524692	chr8:130507982-130507983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200817007	chr8:130508003-130508004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372566352	chr8:130508004-130508005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60623340	chr8:130508071-130508072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571578551	chr8:130508082-130508083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538807042	chr8:130508089-130508090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556902741	chr8:130508112-130508113	Weak transcription	miRNA	n/a	Overlapped CNVs	n/a
45	rs375746551	chr8:130508118-130508119	Weak transcription	miRNA	n/a	Overlapped CNVs	n/a
46	rs57824231	chr8:130508130-130508131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55921050	chr8:130508142-130508143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370934000	chr8:130508148-130508149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60861880	chr8:130508149-130508150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60525947	chr8:130508165-130508166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

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
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
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
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
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130503600-130519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:130506800-130507800	ZNF genes & repeats	K562	blood
3	chr8:130507000-130507600	Strong transcription	Dnd41	blood
4	chr8:130507600-130516400	Weak transcription	Dnd41	blood
5	chr8:130507800-130510600	Weak transcription	K562	blood
6	chr8:130510600-130512200	Strong transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links