Variant report

Variant	esv3480573
Chromosome Location	chr8:100605699-100608023
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	chr8:100607857..100609807-chr8:100619167..100621104,2	K562	blood:
2	chr8:100607378..100609807-chr8:100619167..100621147,2	K562	blood:

Extended variants
information (count: 83 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183362878	chr8:100605776-100605777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs547021348	chr8:100605800-100605801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs560377719	chr8:100605804-100605805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529966121	chr8:100605833-100605834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188941514	chr8:100605834-100605835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs193264953	chr8:100605856-100605857	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112604060	chr8:100605862-100605863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145852452	chr8:100605877-100605878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184127331	chr8:100605955-100605956	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371828052	chr8:100605973-100605974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551902922	chr8:100605975-100605976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571798162	chr8:100605988-100605989	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140707361	chr8:100605994-100605995	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189555646	chr8:100606005-100606006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567401087	chr8:100606009-100606010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191550849	chr8:100606061-100606062	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34012432	chr8:100606117-100606118	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569790811	chr8:100606158-100606159	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184106556	chr8:100606189-100606190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs116344238	chr8:100606217-100606218	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544829298	chr8:100606219-100606220	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532331066	chr8:100606258-100606259	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144428518	chr8:100606260-100606261	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552046660	chr8:100606269-100606270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562152610	chr8:100606318-100606319	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146605429	chr8:100606321-100606322	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571821135	chr8:100606329-100606330	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs150187796	chr8:100606348-100606349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566180911	chr8:100606407-100606408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140309147	chr8:100606423-100606424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs143476122	chr8:100606462-100606463	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367725346	chr8:100606475-100606476	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188846162	chr8:100606507-100606508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115493452	chr8:100606530-100606531	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115598882	chr8:100606533-100606534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531912771	chr8:100606571-100606572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181689095	chr8:100606594-100606595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376789223	chr8:100606602-100606603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147981852	chr8:100606634-100606635	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527788976	chr8:100606640-100606641	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs185645083	chr8:100606670-100606671	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114400036	chr8:100606683-100606684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs544741010	chr8:100606702-100606703	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555030462	chr8:100606743-100606744	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140676054	chr8:100606815-100606816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4735623	chr8:100606821-100606822	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs190218084	chr8:100606853-100606854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558348940	chr8:100606856-100606857	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571763957	chr8:100606899-100606900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540739949	chr8:100606908-100606909	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
head and neck squamous cell carcinoma	19451471	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
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Colorectal cancer	19455253	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Cohen syndrome	20461111	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:100560400-100619600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:100581800-100612400	Weak transcription	HSMMtube	muscle
3	chr8:100582000-100610400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:100586200-100608800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:100586600-100617400	Weak transcription	Fetal Kidney	kidney
6	chr8:100590000-100612800	Weak transcription	Brain Substantia Nigra	brain
7	chr8:100590800-100610600	Weak transcription	Gastric	stomach
8	chr8:100591400-100609600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:100594800-100609000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:100596800-100618800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:100597400-100612600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:100598400-100607200	Weak transcription	Pancreas	Pancrea
13	chr8:100598400-100608400	Weak transcription	Ovary	ovary
14	chr8:100598400-100611200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:100598400-100612000	Weak transcription	Fetal Lung	lung
16	chr8:100598400-100618000	Weak transcription	Aorta	Aorta
17	chr8:100598400-100620800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:100598400-100622800	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr8:100598400-100631200	Weak transcription	Left Ventricle	heart
20	chr8:100598600-100606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:100598600-100623400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr8:100598800-100606800	Weak transcription	Liver	Liver
23	chr8:100598800-100625000	Weak transcription	Adipose Nuclei	Adipose
24	chr8:100599000-100609400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr8:100599000-100610200	Weak transcription	Psoas Muscle	Psoas
26	chr8:100599000-100611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:100599000-100611600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:100599000-100614800	Weak transcription	Fetal Muscle Trunk	muscle
29	chr8:100599400-100608200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr8:100599400-100609400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:100599400-100609800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:100599400-100618200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:100599400-100630800	Weak transcription	Primary T cells from cord blood	blood
34	chr8:100599400-100632400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:100599600-100607000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:100602600-100631200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:100604000-100606600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:100604400-100610000	Strong transcription	Primary B cells from cord blood	blood
39	chr8:100605000-100618000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:100605200-100608000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:100605600-100605800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:100605800-100606200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:100606000-100606200	Enhancers	Esophagus	oesophagus
44	chr8:100606200-100607600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr8:100606200-100611400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr8:100606800-100607200	Enhancers	Liver	Liver
47	chr8:100607200-100610800	Weak transcription	Liver	Liver

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