Variant report

Variant	esv1799802
Chromosome Location	chr8:42812599-42821666
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:42807156..42809247-chr8:42810999..42812969,2	K562	blood:
2	chr8:42808579..42810176-chr8:42817496..42820490,2	K562	blood:
3	chr8:42817054..42819887-chr8:42910983..42912972,2	K562	blood:
4	chr8:42818577..42820653-chr8:42909586..42912018,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168522	chromatin interactions

Extended variants
information (count: 317 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558662521	chr8:42812691-42812692	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs572528453	chr8:42812704-42812705	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs541162674	chr8:42812815-42812816	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555184870	chr8:42812862-42812863	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs574701279	chr8:42812880-42812881	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs35698093	chr8:42812883-42812884	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs563654620	chr8:42812910-42812911	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530152910	chr8:42812969-42812970	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11383704	chr8:42812970-42812971	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs397891174	chr8:42812986-42812987	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs200868051	chr8:42812987-42812988	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs375671997	chr8:42812995-42812996	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs532652094	chr8:42812996-42812997	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs545812475	chr8:42813008-42813009	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559083766	chr8:42813037-42813038	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536909267	chr8:42813041-42813042	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13267326	chr8:42813071-42813072	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs201686144	chr8:42813121-42813122	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs528232455	chr8:42813130-42813131	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs547992084	chr8:42813135-42813136	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs568117621	chr8:42813154-42813155	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs556978646	chr8:42813165-42813166	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560548322	chr8:42813196-42813197	Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527539654	chr8:42813255-42813256	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567552108	chr8:42813266-42813267	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539330209	chr8:42813271-42813272	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149633611	chr8:42813393-42813394	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182479522	chr8:42813399-42813400	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143403159	chr8:42813446-42813447	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200439524	chr8:42813461-42813462	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534976390	chr8:42813470-42813471	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs554767784	chr8:42813481-42813482	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs148347540	chr8:42813505-42813506	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543644016	chr8:42813518-42813519	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs557111755	chr8:42813603-42813604	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs536781532	chr8:42813615-42813616	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs577167092	chr8:42813621-42813622	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs549760407	chr8:42813642-42813643	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs546172946	chr8:42813674-42813675	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs559957531	chr8:42813703-42813704	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs528081040	chr8:42813730-42813731	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs563608296	chr8:42813740-42813741	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs2553743	chr8:42813746-42813747	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541784220	chr8:42813813-42813814	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561778736	chr8:42813839-42813840	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549299402	chr8:42813846-42813847	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75876493	chr8:42813852-42813853	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530603915	chr8:42813854-42813855	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117717721	chr8:42813874-42813875	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570656091	chr8:42813888-42813889	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	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
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42754000-42814200	Weak transcription	Fetal Thymus	thymus
2	chr8:42754800-42812600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr8:42772600-42815400	Weak transcription	Gastric	stomach
4	chr8:42772600-42815400	Weak transcription	Psoas Muscle	Psoas
5	chr8:42775600-42814400	Weak transcription	Right Ventricle	heart
6	chr8:42776000-42814400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
8	chr8:42776400-42814200	Weak transcription	Colon Smooth Muscle	Colon
9	chr8:42777400-42814400	Weak transcription	Spleen	Spleen
10	chr8:42779200-42815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:42781200-42814400	Weak transcription	Pancreas	Pancrea
12	chr8:42782600-42815400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr8:42787800-42814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:42787800-42820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:42788000-42814200	Weak transcription	Brain Anterior Caudate	brain
16	chr8:42788000-42815400	Weak transcription	Brain Angular Gyrus	brain
17	chr8:42788800-42814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:42788800-42815000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:42789000-42815600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:42794000-42815000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:42795000-42825000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr8:42795800-42814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:42795800-42815400	Weak transcription	Fetal Brain Male	brain
24	chr8:42795800-42829800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr8:42796000-42814200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:42796000-42822200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:42796800-42812600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:42797000-42814200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:42799600-42814400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr8:42800400-42823600	Weak transcription	Hela-S3	cervix
32	chr8:42801600-42814200	Weak transcription	Colonic Mucosa	Colon
33	chr8:42802200-42826200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:42803000-42815400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:42803800-42824200	Strong transcription	HSMM	muscle
36	chr8:42804800-42816000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:42805400-42829200	Weak transcription	Small Intestine	intestine
38	chr8:42805600-42813800	Weak transcription	Fetal Kidney	kidney
39	chr8:42806600-42817200	Strong transcription	Osteobl	bone
40	chr8:42806800-42813400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr8:42806800-42814200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr8:42806800-42814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:42807200-42814400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr8:42807400-42814200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:42807400-42814600	Weak transcription	Fetal Intestine Small	intestine
46	chr8:42807600-42813200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr8:42807600-42814200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr8:42807600-42814200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr8:42807600-42814200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:42807600-42814200	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links