Variant report

Variant	esv3419701
Chromosome Location	chr8:67655998-67660496
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	chr8:67625428..67627452-chr8:67654330..67656798,2	MCF-7	breast:

Extended variants
information (count: 187 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:187 , 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	rs541452868	chr8:67655999-67656000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374352874	chr8:67656025-67656026	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530334054	chr8:67656038-67656039	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561220109	chr8:67656057-67656058	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112353126	chr8:67656060-67656061	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549999281	chr8:67656066-67656067	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563943036	chr8:67656067-67656068	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568263480	chr8:67656074-67656075	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149890719	chr8:67656089-67656090	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552327072	chr8:67656106-67656107	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566051297	chr8:67656151-67656152	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182668536	chr8:67656157-67656158	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563088167	chr8:67656194-67656195	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs386726327	chr8:67656209-67656210	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78417659	chr8:67656210-67656211	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536384572	chr8:67656218-67656219	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145935269	chr8:67656269-67656270	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576212648	chr8:67656337-67656338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186802944	chr8:67656338-67656339	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576680220	chr8:67656361-67656362	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572379465	chr8:67656365-67656366	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369389704	chr8:67656407-67656408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542368849	chr8:67656464-67656465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192168177	chr8:67656562-67656563	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75925739	chr8:67656614-67656615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543924890	chr8:67656632-67656633	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563654991	chr8:67656689-67656690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374837773	chr8:67656706-67656707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75598923	chr8:67656720-67656721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542353905	chr8:67656722-67656723	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs199582572	chr8:67656748-67656749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs55669723	chr8:67656752-67656753	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10095448	chr8:67656754-67656755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76714628	chr8:67656766-67656767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55684607	chr8:67656780-67656781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71515032	chr8:67656782-67656783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559476198	chr8:67656801-67656802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185744088	chr8:67656829-67656830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143924800	chr8:67656836-67656837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567286540	chr8:67656961-67656962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146864541	chr8:67657001-67657002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547769522	chr8:67657016-67657017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113578690	chr8:67657036-67657037	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571690420	chr8:67657040-67657041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111235370	chr8:67657041-67657042	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533267239	chr8:67657047-67657048	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190267546	chr8:67657052-67657053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549630669	chr8:67657057-67657058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538697488	chr8:67657083-67657084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558836688	chr8:67657137-67657138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67626200-67657600	Weak transcription	Lung	lung
2	chr8:67626200-67664400	Weak transcription	Ovary	ovary
3	chr8:67626200-67665200	Weak transcription	Fetal Stomach	stomach
4	chr8:67626800-67660600	Weak transcription	HSMMtube	muscle
5	chr8:67627200-67660200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr8:67627200-67665600	Weak transcription	Left Ventricle	heart
7	chr8:67632600-67662400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:67633600-67659600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:67638600-67659800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:67638600-67660800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:67639000-67659600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:67639600-67664400	Weak transcription	Thymus	Thymus
13	chr8:67641000-67659800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:67641200-67666200	Weak transcription	Pancreas	Pancrea
15	chr8:67646400-67656000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:67646600-67660200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:67646800-67659800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr8:67647800-67671000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr8:67648000-67659800	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:67648400-67659400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:67648400-67659600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:67648400-67660200	Weak transcription	Brain Angular Gyrus	brain
23	chr8:67650400-67656000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:67650800-67660600	Weak transcription	Brain Substantia Nigra	brain
25	chr8:67651400-67658600	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:67651400-67663000	Weak transcription	Adipose Nuclei	Adipose
27	chr8:67651600-67664200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:67651800-67658000	Weak transcription	Liver	Liver
29	chr8:67651800-67659800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr8:67652200-67672400	Weak transcription	Fetal Intestine Small	intestine
31	chr8:67652400-67664200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:67652600-67660000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:67652600-67664000	Weak transcription	Primary B cells from cord blood	blood
34	chr8:67654000-67658000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr8:67654000-67658200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:67654000-67658400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr8:67654600-67659000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr8:67654800-67658400	Strong transcription	Primary hematopoietic stem cells	blood
39	chr8:67654800-67661200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr8:67655200-67656000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr8:67655800-67656400	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:67656000-67656200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:67656000-67656400	Enhancers	Brain Anterior Caudate	brain
44	chr8:67656000-67656600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:67656000-67657000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:67656400-67658200	Weak transcription	Brain Anterior Caudate	brain
47	chr8:67656400-67658600	Weak transcription	Fetal Intestine Large	intestine
48	chr8:67656400-67679000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:67656600-67670400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:67657000-67662800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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