Variant report

Variant	esv2578987
Chromosome Location	chr8:68232129-68233565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541077119	chr8:68232144-68232145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542683977	chr8:68232195-68232196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552286776	chr8:68232221-68232222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562768256	chr8:68232222-68232223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570469733	chr8:68232235-68232236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531665613	chr8:68232237-68232238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551583308	chr8:68232253-68232254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564894039	chr8:68232254-68232255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527501201	chr8:68232280-68232281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs180932900	chr8:68232344-68232345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567760402	chr8:68232358-68232359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111318362	chr8:68232391-68232392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549813053	chr8:68232407-68232408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148809492	chr8:68232420-68232421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142451670	chr8:68232421-68232422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184912418	chr8:68232429-68232430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572521630	chr8:68232451-68232452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544834392	chr8:68232483-68232484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7000949	chr8:68232485-68232486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553576020	chr8:68232534-68232535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573725381	chr8:68232548-68232549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117340329	chr8:68232582-68232583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190899296	chr8:68232597-68232598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562499968	chr8:68232605-68232606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576119735	chr8:68232624-68232625	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545294098	chr8:68232648-68232649	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183214733	chr8:68232705-68232706	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186931488	chr8:68232788-68232789	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547611714	chr8:68232790-68232791	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375952209	chr8:68232801-68232802	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35234899	chr8:68232822-68232823	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs151315899	chr8:68232909-68232910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530164771	chr8:68232917-68232918	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549749229	chr8:68232929-68232930	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542705709	chr8:68232931-68232932	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374747489	chr8:68232960-68232961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538670767	chr8:68232970-68232971	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7002191	chr8:68232990-68232991	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191772977	chr8:68232997-68232998	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566402230	chr8:68233023-68233024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367611374	chr8:68233024-68233025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372268256	chr8:68233055-68233056	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534901189	chr8:68233057-68233058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373145167	chr8:68233062-68233063	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568306838	chr8:68233068-68233069	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375852422	chr8:68233069-68233070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535354885	chr8:68233096-68233097	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183117121	chr8:68233145-68233146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376684284	chr8:68233153-68233154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs117638185	chr8:68233172-68233173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:68173600-68236400	Weak transcription	Stomach Mucosa	stomach
2	chr8:68197800-68234200	Weak transcription	Aorta	Aorta
3	chr8:68209600-68252400	Weak transcription	Fetal Kidney	kidney
4	chr8:68211600-68240800	Weak transcription	Fetal Brain Male	brain
5	chr8:68212800-68252400	Weak transcription	Hela-S3	cervix
6	chr8:68214000-68234600	Weak transcription	HMEC	breast
7	chr8:68218800-68254200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr8:68220200-68251600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:68220200-68251800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:68220400-68251400	Weak transcription	NHDF-Ad	bronchial
11	chr8:68220400-68251800	Weak transcription	NHLF	lung
12	chr8:68220600-68236400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:68224600-68251800	Weak transcription	HUVEC	blood vessel
14	chr8:68225600-68250200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr8:68225600-68251600	Weak transcription	Fetal Brain Female	brain
16	chr8:68226000-68236400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:68226200-68236200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:68226200-68236600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:68226400-68236400	Weak transcription	Adipose Nuclei	Adipose
20	chr8:68226400-68236400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:68226400-68236400	Weak transcription	Gastric	stomach
22	chr8:68226400-68236600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:68226400-68236600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:68226400-68238000	Weak transcription	GM12878-XiMat	blood
25	chr8:68226400-68238600	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:68226400-68238800	Weak transcription	Spleen	Spleen
27	chr8:68226400-68248800	Weak transcription	Fetal Lung	lung
28	chr8:68226400-68250200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:68226400-68251400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:68226400-68252200	Weak transcription	Placenta	Placenta
31	chr8:68226400-68252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:68226400-68252800	Weak transcription	NHEK	skin
33	chr8:68226400-68254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:68226400-68254600	Weak transcription	Esophagus	oesophagus
35	chr8:68226600-68232200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:68226600-68233000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:68226600-68237600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:68226600-68246800	Weak transcription	Liver	Liver
39	chr8:68226600-68248600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:68226600-68250400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:68226600-68252400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr8:68226600-68254200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr8:68226600-68254400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:68226600-68254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr8:68226800-68234000	Weak transcription	Fetal Intestine Large	intestine
46	chr8:68226800-68248400	Weak transcription	Brain Germinal Matrix	brain
47	chr8:68226800-68251600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:68227000-68252400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr8:68227000-68253600	Weak transcription	Pancreas	Pancrea
50	chr8:68227000-68254600	Weak transcription	Thymus	Thymus

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