Variant report

Variant	esv3333582
Chromosome Location	chr13:97980451-97983549
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	chr13:97912583..97915066-chr13:97983243..97985730,2	K562	blood:

Extended variants
information (count: 145 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:145 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558559759	chr13:97980497-97980498	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs67169780	chr13:97980498-97980499	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142788374	chr13:97980521-97980522	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537730076	chr13:97980568-97980569	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188423937	chr13:97980659-97980660	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147411183	chr13:97980674-97980675	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139719998	chr13:97980680-97980681	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544866403	chr13:97980702-97980703	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561157316	chr13:97980703-97980704	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74106917	chr13:97980713-97980714	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs573258494	chr13:97980716-97980717	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145303107	chr13:97980736-97980737	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369807785	chr13:97980740-97980741	Flanking Active TSS Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540219327	chr13:97980809-97980810	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9582125	chr13:97980827-97980828	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs575278925	chr13:97980867-97980868	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147651332	chr13:97980870-97980871	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142156271	chr13:97980895-97980896	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs201568763	chr13:97980904-97980905	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55768634	chr13:97980917-97980918	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs9582126	chr13:97980958-97980959	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192304884	chr13:97980968-97980969	Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560112657	chr13:97981006-97981007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551624479	chr13:97981007-97981008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149673498	chr13:97981049-97981050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76055600	chr13:97981079-97981080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568866241	chr13:97981086-97981087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537867979	chr13:97981117-97981118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142043531	chr13:97981127-97981128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112687725	chr13:97981135-97981136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9582127	chr13:97981190-97981191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs9584551	chr13:97981208-97981209	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs145503283	chr13:97981252-97981253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573363415	chr13:97981293-97981294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375750080	chr13:97981317-97981318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538735416	chr13:97981429-97981430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550842082	chr13:97981432-97981433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148854343	chr13:97981528-97981529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575214873	chr13:97981590-97981591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145766311	chr13:97981615-97981616	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146608022	chr13:97981616-97981617	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372524949	chr13:97981652-97981653	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560698283	chr13:97981663-97981664	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs61972768	chr13:97981705-97981706	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs61972769	chr13:97981718-97981719	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs76544568	chr13:97981747-97981748	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560255014	chr13:97981778-97981779	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552653607	chr13:97981779-97981780	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117068552	chr13:97981799-97981800	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs17235649	chr13:97981814-97981815	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:241 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97925800-97987200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr13:97942800-97995200	Weak transcription	Thymus	Thymus
3	chr13:97954400-97986200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:97955000-97987000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr13:97955200-97986800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr13:97959400-97988800	Weak transcription	Fetal Intestine Large	intestine
7	chr13:97961400-97987200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:97962000-97991200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr13:97963000-97984400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr13:97965200-97985800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr13:97965600-97988800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:97965800-97987200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr13:97967400-97991400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr13:97969400-97981600	Weak transcription	Spleen	Spleen
15	chr13:97969400-97981800	Weak transcription	Esophagus	oesophagus
16	chr13:97969600-97982000	Weak transcription	Primary B cells from cord blood	blood
17	chr13:97969600-97987200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr13:97969800-97986600	Weak transcription	Primary B cells from peripheral blood	blood
19	chr13:97971400-97981800	Weak transcription	Gastric	stomach
20	chr13:97971600-97981600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:97971600-97991400	Weak transcription	Stomach Mucosa	stomach
22	chr13:97971800-97980600	Weak transcription	Pancreas	Pancrea
23	chr13:97971800-97981600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr13:97971800-97986400	Weak transcription	Primary T cells from cord blood	blood
25	chr13:97971800-97986400	Weak transcription	Aorta	Aorta
26	chr13:97971800-97986400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr13:97971800-97987200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:97971800-97987600	Weak transcription	Fetal Intestine Small	intestine
29	chr13:97971800-97987800	Weak transcription	Colonic Mucosa	Colon
30	chr13:97971800-97991800	Weak transcription	Small Intestine	intestine
31	chr13:97972000-97987200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr13:97972400-97981800	Weak transcription	Liver	Liver
33	chr13:97972400-97986400	Weak transcription	Duodenum Mucosa	Duodenum
34	chr13:97973000-97983200	Enhancers	Brain Cingulate Gyrus	brain
35	chr13:97973200-97983400	Enhancers	Rectal Smooth Muscle	rectum
36	chr13:97976200-97990400	Weak transcription	Fetal Brain Male	brain
37	chr13:97977000-97981800	Weak transcription	HepG2	liver
38	chr13:97977400-97987000	Weak transcription	Hela-S3	cervix
39	chr13:97978000-97980800	Enhancers	NHEK	skin
40	chr13:97978200-97983000	Enhancers	Psoas Muscle	Psoas
41	chr13:97978200-97987000	Enhancers	Colon Smooth Muscle	Colon
42	chr13:97978800-97982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:97979000-97982400	Enhancers	NHLF	lung
44	chr13:97979200-97980800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:97979200-97981000	Enhancers	Osteobl	bone
46	chr13:97979200-97981200	Enhancers	A549	lung
47	chr13:97979200-97981800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:97979200-97981800	Enhancers	HUVEC	blood vessel
49	chr13:97979200-97982000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr13:97979400-97980600	Weak transcription	Brain Substantia Nigra	brain

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