Variant report

Variant	esv3421327
Chromosome Location	chr8:95785559-95786782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95772604..95775506-chr8:95784480..95786073,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11350067	chr8:95785572-95785573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184662730	chr8:95785649-95785650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527619288	chr8:95785662-95785663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541310173	chr8:95785668-95785669	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189500619	chr8:95785692-95785693	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562280751	chr8:95785696-95785697	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529904532	chr8:95785720-95785721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550256552	chr8:95785753-95785754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181876746	chr8:95785799-95785800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532559419	chr8:95785807-95785808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186793386	chr8:95785815-95785816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566046106	chr8:95785816-95785817	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572406806	chr8:95785819-95785820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141534099	chr8:95785888-95785889	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561148797	chr8:95785912-95785913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13252877	chr8:95785949-95785950	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs568328371	chr8:95785953-95785954	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543563755	chr8:95785967-95785968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148108138	chr8:95785972-95785973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531095636	chr8:95786002-95786003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556247402	chr8:95786015-95786016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13277564	chr8:95786029-95786030	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs71273373	chr8:95786116-95786117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538712411	chr8:95786135-95786136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558296266	chr8:95786190-95786191	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79751438	chr8:95786286-95786287	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76903903	chr8:95786287-95786288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77334520	chr8:95786290-95786291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368430698	chr8:95786310-95786311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141063501	chr8:95786326-95786327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190061812	chr8:95786327-95786328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375129085	chr8:95786360-95786361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541377333	chr8:95786369-95786370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs561125758	chr8:95786421-95786422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532489124	chr8:95786435-95786436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574685585	chr8:95786440-95786441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs79040210	chr8:95786463-95786464	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6996787	chr8:95786528-95786529	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs563818736	chr8:95786536-95786537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181190807	chr8:95786560-95786561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186483619	chr8:95786570-95786571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7014120	chr8:95786605-95786606	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs528430359	chr8:95786607-95786608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs116485270	chr8:95786653-95786654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568387474	chr8:95786686-95786687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
2	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
3	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
6	chr8:95735400-95787800	Weak transcription	Hela-S3	cervix
7	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:95744000-95790800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr8:95752400-95809200	Weak transcription	NHLF	lung
10	chr8:95752600-95793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:95752600-95805600	Weak transcription	NHEK	skin
12	chr8:95753600-95791200	Weak transcription	Primary B cells from cord blood	blood
13	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:95762200-95793600	Weak transcription	Stomach Mucosa	stomach
15	chr8:95766200-95788400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:95767600-95795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
19	chr8:95773800-95802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:95774000-95788000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:95774000-95791200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:95774000-95798000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:95774200-95792000	Strong transcription	Fetal Intestine Large	intestine
24	chr8:95774400-95791800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:95774400-95792000	Strong transcription	Fetal Intestine Small	intestine
26	chr8:95774400-95792000	Strong transcription	Fetal Stomach	stomach
27	chr8:95774400-95792200	Strong transcription	Fetal Muscle Leg	muscle
28	chr8:95774800-95799800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:95774800-95803200	Weak transcription	Fetal Heart	heart
30	chr8:95775200-95786200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:95776200-95797800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:95776200-95803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr8:95776800-95786600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:95777000-95787800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:95777200-95789600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:95777200-95792200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr8:95777400-95804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr8:95777600-95788000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:95777800-95785600	Strong transcription	Dnd41	blood
40	chr8:95777800-95789200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:95778000-95788800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:95778600-95802600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:95778800-95788200	Strong transcription	Adipose Nuclei	Adipose
44	chr8:95778800-95788200	Strong transcription	Stomach Smooth Muscle	stomach
45	chr8:95779000-95786600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:95779000-95788000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:95779000-95792200	Strong transcription	Left Ventricle	heart
48	chr8:95779200-95786400	Strong transcription	Primary T cells from cord blood	blood
49	chr8:95780200-95787400	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:95780400-95787400	Strong transcription	Placenta	Placenta

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