Variant report

Variant	nsv528287
Chromosome Location	chr8:125570800-125571657
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:125570590-125571557	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:125571194-125571198	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:125570934-125570981	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:125570574-125570993	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:125571594-125571761	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:125570769-125571219	K562	blood:	n/a	n/a
7	POLR2A	chr8:125571500-125571686	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:125571217-125571448	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125571310..125574209-chr8:125585133..125590105,4	MCF-7	breast:
2	chr8:125570314..125572061-chr8:125572775..125574818,2	MCF-7	breast:
3	chr8:125550901..125553938-chr8:125568241..125570881,3	K562	blood:
4	chr8:125560928..125566588-chr8:125566852..125577107,17	MCF-7	breast:
5	chr8:125569223..125571926-chr8:125574045..125576529,2	K562	blood:
6	chr8:125570946..125573544-chr8:125575024..125576793,2	MCF-7	breast:
7	chr8:125543458..125545211-chr8:125571140..125573606,2	MCF-7	breast:
8	chr8:125547667..125554911-chr8:125566055..125572382,17	MCF-7	breast:
9	chr8:125570504..125573139-chr8:125763957..125765886,2	K562	blood:
10	chr8:125570451..125574343-chr8:125825804..125829124,4	K562	blood:

No data

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000147687	chromatin interactions
ENSG00000255491	chromatin interactions
ENSG00000147684	chromatin interactions
ENSG00000170873	chromatin interactions

Extended variants
information (count: 43 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7846270	chr8:125570800-125570801	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs574979286	chr8:125570821-125570822	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs556475448	chr8:125570830-125570831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs181321595	chr8:125570852-125570853	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs563826816	chr8:125570875-125570876	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs377181747	chr8:125570943-125570944	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs145261947	chr8:125570982-125570983	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs144103812	chr8:125570993-125570994	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs559973464	chr8:125571019-125571020	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs528827200	chr8:125571044-125571045	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs548156528	chr8:125571059-125571060	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs567972003	chr8:125571096-125571097	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs530475791	chr8:125571128-125571129	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs550282326	chr8:125571134-125571135	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs185243548	chr8:125571148-125571149	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs539234721	chr8:125571200-125571201	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs12334551	chr8:125571250-125571251	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs566755709	chr8:125571255-125571256	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs150678237	chr8:125571293-125571294	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs535423954	chr8:125571297-125571298	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs554911726	chr8:125571307-125571308	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs148695742	chr8:125571308-125571309	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs537517728	chr8:125571321-125571322	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs7004861	chr8:125571330-125571331	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs577440060	chr8:125571388-125571389	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs112977738	chr8:125571392-125571393	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs546371571	chr8:125571398-125571399	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs34036884	chr8:125571399-125571400	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs17298759	chr8:125571412-125571413	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs553884500	chr8:125571432-125571433	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs3793396	chr8:125571438-125571439	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs115767506	chr8:125571452-125571453	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs114096171	chr8:125571459-125571460	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs3793397	chr8:125571478-125571479	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs3793398	chr8:125571483-125571484	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs563817323	chr8:125571496-125571497	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs532909128	chr8:125571501-125571502	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs3793399	chr8:125571507-125571508	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140256146	chr8:125571531-125571532	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs111592996	chr8:125571544-125571545	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs3829034	chr8:125571586-125571587	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs144039879	chr8:125571652-125571653	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs6470249	chr8:125571657-125571658	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:146)

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
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125553400-125575200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr8:125553400-125575200	Strong transcription	Fetal Muscle Leg	muscle
3	chr8:125553800-125575400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:125553800-125581200	Strong transcription	Fetal Brain Female	brain
5	chr8:125554000-125572400	Strong transcription	Thymus	Thymus
6	chr8:125554000-125574000	Strong transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:125554200-125576200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:125554400-125574200	Strong transcription	Fetal Muscle Trunk	muscle
9	chr8:125554400-125575400	Strong transcription	Primary B cells from cord blood	blood
10	chr8:125554400-125576200	Strong transcription	Fetal Intestine Large	intestine
11	chr8:125554600-125574000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:125554600-125575000	Strong transcription	Primary B cells from peripheral blood	blood
13	chr8:125554600-125575800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr8:125555200-125574000	Strong transcription	Placenta	Placenta
15	chr8:125555200-125575000	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:125555200-125575200	Strong transcription	Brain Cingulate Gyrus	brain
17	chr8:125555600-125574200	Strong transcription	Primary T cells from cord blood	blood
18	chr8:125556000-125574200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:125556200-125575000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:125556800-125576800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:125557000-125572400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:125558000-125575600	Weak transcription	Stomach Mucosa	stomach
23	chr8:125558200-125573600	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:125558800-125573200	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr8:125559000-125572600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr8:125559200-125572400	Strong transcription	Lung	lung
27	chr8:125560400-125575000	Weak transcription	Right Atrium	heart
28	chr8:125561200-125572800	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:125561200-125575200	Strong transcription	HepG2	liver
30	chr8:125561400-125572400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr8:125561400-125575000	Strong transcription	Adipose Nuclei	Adipose
32	chr8:125561400-125575600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:125561600-125571800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr8:125561600-125573400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:125561600-125575000	Strong transcription	Liver	Liver
36	chr8:125563400-125572600	Strong transcription	Spleen	Spleen
37	chr8:125563600-125574400	Strong transcription	Right Ventricle	heart
38	chr8:125563600-125575600	Strong transcription	Fetal Stomach	stomach
39	chr8:125564000-125574000	Weak transcription	K562	blood
40	chr8:125564000-125574200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:125564000-125575600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr8:125564200-125572600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr8:125564200-125574000	Strong transcription	Brain Germinal Matrix	brain
44	chr8:125564400-125572400	Strong transcription	Esophagus	oesophagus
45	chr8:125564400-125572800	Weak transcription	HSMMtube	muscle
46	chr8:125564400-125576800	Strong transcription	Fetal Intestine Small	intestine
47	chr8:125564800-125573400	Weak transcription	Hela-S3	cervix
48	chr8:125565600-125572400	Strong transcription	Pancreas	Pancrea
49	chr8:125566000-125575000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:125566000-125576400	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links