Variant report

Variant	esv3402975
Chromosome Location	chr8:102662576-102666774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102664289..102666765-chr8:102667718..102671185,4	MCF-7	breast:
2	chr8:102664916..102667894-chr8:102671918..102674454,2	MCF-7	breast:
3	chr8:102661081..102663898-chr8:102668064..102670538,3	MCF-7	breast:
4	chr8:102649060..102651936-chr8:102661670..102663613,2	MCF-7	breast:

Extended variants
information (count: 189 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575231218	chr8:102662583-102662584	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542571643	chr8:102662604-102662605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192787203	chr8:102662605-102662606	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145501769	chr8:102662687-102662688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374495498	chr8:102662737-102662738	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573453053	chr8:102662739-102662740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369756829	chr8:102662746-102662747	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113945416	chr8:102662750-102662751	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532635162	chr8:102662824-102662825	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554730762	chr8:102662849-102662850	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148399665	chr8:102662874-102662875	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563323335	chr8:102662900-102662901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184828246	chr8:102662920-102662921	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548968179	chr8:102662921-102662922	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs6996973	chr8:102662924-102662925	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144315890	chr8:102663032-102663033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369685535	chr8:102663033-102663034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567263846	chr8:102663036-102663037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs60123459	chr8:102663040-102663041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs59979330	chr8:102663058-102663059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567174635	chr8:102663107-102663108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528367845	chr8:102663147-102663148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116523981	chr8:102663151-102663152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571411643	chr8:102663155-102663156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142527572	chr8:102663156-102663157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556741570	chr8:102663172-102663173	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532348801	chr8:102663173-102663174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536369021	chr8:102663199-102663200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554519476	chr8:102663203-102663204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368983204	chr8:102663235-102663236	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573190560	chr8:102663278-102663279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536011309	chr8:102663323-102663324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7827945	chr8:102663325-102663326	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150529868	chr8:102663345-102663346	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376665265	chr8:102663369-102663370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376451762	chr8:102663381-102663382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16868133	chr8:102663410-102663411	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs563092915	chr8:102663462-102663463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375155104	chr8:102663471-102663472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542774186	chr8:102663472-102663473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560924601	chr8:102663619-102663620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377603340	chr8:102663626-102663627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545304544	chr8:102663635-102663636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552445646	chr8:102663729-102663730	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139876575	chr8:102663767-102663768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546871267	chr8:102663768-102663769	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75670914	chr8:102663788-102663789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373570126	chr8:102663813-102663814	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532288390	chr8:102663827-102663828	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571913908	chr8:102663832-102663833	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
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
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
Cancer	20164919	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	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	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
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	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
small cell lung cancer	20016488	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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Oral squamous cell carcinoma	21853135	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102644600-102663800	Weak transcription	Lung	lung
2	chr8:102644800-102674600	Weak transcription	Ovary	ovary
3	chr8:102648600-102663600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr8:102650600-102664400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:102650800-102664600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr8:102651400-102681200	Weak transcription	Stomach Mucosa	stomach
7	chr8:102655200-102663800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:102655200-102669400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr8:102655600-102664400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:102655600-102664400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr8:102656400-102663800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:102657200-102668200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:102658400-102663000	Strong transcription	NHEK	skin
14	chr8:102658600-102665800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr8:102659000-102664400	Strong transcription	Placenta	Placenta
16	chr8:102659200-102663400	Weak transcription	Right Atrium	heart
17	chr8:102659200-102679400	Weak transcription	HMEC	breast
18	chr8:102660200-102662600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:102660200-102663200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr8:102661000-102663400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:102661200-102663800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:102661200-102664400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:102661200-102678600	Weak transcription	Fetal Stomach	stomach
24	chr8:102661600-102663000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:102661600-102663000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr8:102661600-102678800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:102661800-102663600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:102661800-102663800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:102661800-102663800	Weak transcription	Fetal Intestine Large	intestine
30	chr8:102661800-102663800	Weak transcription	Fetal Intestine Small	intestine
31	chr8:102661800-102663800	Weak transcription	Gastric	stomach
32	chr8:102661800-102663800	Weak transcription	Pancreas	Pancrea
33	chr8:102661800-102664000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr8:102661800-102668800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:102661800-102678600	Weak transcription	Colonic Mucosa	Colon
36	chr8:102662000-102663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:102662000-102664600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr8:102662000-102668200	Weak transcription	Esophagus	oesophagus
39	chr8:102662400-102663000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:102662400-102663800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:102662400-102668000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:102662600-102668400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:102663000-102667600	Weak transcription	NHEK	skin
44	chr8:102663000-102668200	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:102663000-102676400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:102663200-102663800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:102663400-102664200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr8:102663600-102663800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:102663600-102664800	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:102663800-102664000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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