Variant report

Variant	esv3509800
Chromosome Location	chr19:41152400-41158141
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	chr19:41120316..41124225-chr19:41147891..41152450,4	K562	blood:

Variant related genes	Relation type
ENSG00000090006	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139619563	chr19:41152405-41152406	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs58299130	chr19:41152422-41152423	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11672525	chr19:41152429-41152430	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545361453	chr19:41152481-41152482	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs564063524	chr19:41152489-41152490	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs528398172	chr19:41152507-41152508	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs183001322	chr19:41152516-41152517	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs545671855	chr19:41152564-41152565	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs80032869	chr19:41152593-41152594	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs2561560	chr19:41152599-41152600	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548667757	chr19:41152682-41152683	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564440391	chr19:41152703-41152704	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188753163	chr19:41152741-41152742	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs202172219	chr19:41152746-41152747	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200372767	chr19:41152748-41152749	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201163174	chr19:41152750-41152751	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199762013	chr19:41152753-41152754	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs80041498	chr19:41152758-41152759	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs76527010	chr19:41152767-41152768	Enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10425069	chr19:41152847-41152848	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs373664540	chr19:41152883-41152884	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535368880	chr19:41152961-41152962	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs117034257	chr19:41153012-41153013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs118060349	chr19:41153021-41153022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547044512	chr19:41153030-41153031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139225049	chr19:41153032-41153033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556653928	chr19:41153046-41153047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193206615	chr19:41153067-41153068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs568907325	chr19:41153089-41153090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540057744	chr19:41153166-41153167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138233226	chr19:41153183-41153184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563774803	chr19:41153224-41153225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185589712	chr19:41153248-41153249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374548637	chr19:41153249-41153250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142623089	chr19:41153253-41153254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375262028	chr19:41153281-41153282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201376107	chr19:41153283-41153284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199827826	chr19:41153284-41153285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111885990	chr19:41153285-41153286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200741672	chr19:41153286-41153287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201914947	chr19:41153287-41153288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545149571	chr19:41153289-41153290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372816341	chr19:41153290-41153291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112417811	chr19:41153295-41153296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59008166	chr19:41153303-41153304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144884779	chr19:41153315-41153316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550764606	chr19:41153364-41153365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569049180	chr19:41153590-41153591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79378297	chr19:41154200-41154201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77110986	chr19:41154209-41154210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Anaplastic thyroid cancer	18753363	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41140800-41152600	Weak transcription	Right Atrium	heart
2	chr19:41145400-41153000	Enhancers	Fetal Stomach	stomach
3	chr19:41146800-41152400	Weak transcription	Colonic Mucosa	Colon
4	chr19:41146800-41152400	Weak transcription	Lung	lung
5	chr19:41146800-41157000	Weak transcription	Spleen	Spleen
6	chr19:41147600-41152400	Weak transcription	Ovary	ovary
7	chr19:41147600-41152400	Weak transcription	NHLF	lung
8	chr19:41150800-41152400	Enhancers	Rectal Smooth Muscle	rectum
9	chr19:41151000-41152800	Enhancers	Fetal Muscle Trunk	muscle
10	chr19:41151200-41153000	Enhancers	Fetal Muscle Leg	muscle
11	chr19:41151200-41153000	Enhancers	Placenta	Placenta
12	chr19:41151400-41152400	Weak transcription	Left Ventricle	heart
13	chr19:41151400-41152600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:41151400-41152800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:41151600-41152400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:41151600-41152400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr19:41151600-41152800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:41151600-41152800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr19:41151600-41152800	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr19:41151600-41152800	Active TSS	Duodenum Mucosa	Duodenum
21	chr19:41151600-41152800	Flanking Active TSS	HUVEC	blood vessel
22	chr19:41151600-41153000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:41151600-41153000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:41151600-41153000	Enhancers	Fetal Kidney	kidney
25	chr19:41151600-41153000	Enhancers	HMEC	breast
26	chr19:41151800-41152400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:41151800-41152400	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr19:41151800-41152400	Enhancers	K562	blood
29	chr19:41151800-41152400	Active TSS	NHDF-Ad	bronchial
30	chr19:41151800-41152600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:41151800-41152600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr19:41151800-41152600	Enhancers	Fetal Heart	heart
33	chr19:41151800-41152600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr19:41151800-41152600	Flanking Active TSS	NH-A	brain
35	chr19:41151800-41152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:41151800-41152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:41151800-41152800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:41151800-41152800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr19:41151800-41152800	Enhancers	Stomach Mucosa	stomach
40	chr19:41151800-41152800	Flanking Active TSS	HSMM	muscle
41	chr19:41151800-41152800	Enhancers	NHEK	skin
42	chr19:41151800-41152800	Flanking Active TSS	Osteobl	bone
43	chr19:41151800-41153000	Active TSS	Stomach Smooth Muscle	stomach
44	chr19:41151800-41153000	Flanking Active TSS	Hela-S3	cervix
45	chr19:41151800-41153200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr19:41152000-41152400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:41152000-41152400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:41152000-41152400	Active TSS	Adipose Nuclei	Adipose
49	chr19:41152000-41152400	Active TSS	Brain Angular Gyrus	brain
50	chr19:41152000-41152400	Active TSS	Brain Inferior Temporal Lobe	brain

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