Variant report

Variant	esv3325321
Chromosome Location	chr19:40390872-40406938
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	chr19:40403844..40404724-chr19:40476336..40477181,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013275	chromatin interactions

Extended variants
information (count: 624 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587655912	chr19:40390933-40390934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs80158204	chr19:40390961-40390962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587769874	chr19:40390971-40390972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369425261	chr19:40391016-40391017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587650270	chr19:40391051-40391052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587699654	chr19:40391077-40391078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62108878	chr19:40391100-40391101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587763482	chr19:40391120-40391121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587631285	chr19:40391129-40391130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373511164	chr19:40391139-40391140	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587720727	chr19:40391152-40391153	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587599772	chr19:40391161-40391162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62108879	chr19:40391180-40391181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376337348	chr19:40391207-40391208	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs587677484	chr19:40391225-40391226	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587710406	chr19:40391272-40391273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs587605526	chr19:40391274-40391275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144096781	chr19:40391306-40391307	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587665014	chr19:40391330-40391331	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587742328	chr19:40391367-40391368	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587621800	chr19:40391376-40391377	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs71211464	chr19:40391406-40391407	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs62108880	chr19:40391428-40391429	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71356881	chr19:40391463-40391464	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587758076	chr19:40391465-40391466	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs2909232	chr19:40391470-40391471	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200552746	chr19:40391476-40391477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587633622	chr19:40391480-40391481	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587713434	chr19:40391519-40391520	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2909233	chr19:40391533-40391534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587751110	chr19:40391627-40391628	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376152024	chr19:40391651-40391652	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376335065	chr19:40391652-40391653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201214541	chr19:40391658-40391659	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371541877	chr19:40391659-40391660	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587618938	chr19:40391707-40391708	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199723371	chr19:40391713-40391714	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112427264	chr19:40391721-40391722	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376279811	chr19:40391790-40391791	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587758810	chr19:40391799-40391800	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587642070	chr19:40391838-40391839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370809859	chr19:40391869-40391870	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587757849	chr19:40391918-40391919	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146061466	chr19:40391919-40391920	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139958212	chr19:40391933-40391934	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587610512	chr19:40391964-40391965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587661645	chr19:40391966-40391967	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372439494	chr19:40391973-40391974	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150930823	chr19:40392000-40392001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201020361	chr19:40392008-40392009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Lung cancer	21569311	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40369800-40402600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:40369800-40404000	Weak transcription	Colonic Mucosa	Colon
3	chr19:40371200-40402800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr19:40371200-40404000	Weak transcription	Primary T cells from cord blood	blood
5	chr19:40371400-40391000	Weak transcription	Fetal Intestine Small	intestine
6	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:40389600-40391200	Weak transcription	HepG2	liver
8	chr19:40391000-40392000	Strong transcription	Fetal Intestine Small	intestine
9	chr19:40391200-40393000	Enhancers	HepG2	liver
10	chr19:40392000-40402800	Weak transcription	Fetal Intestine Small	intestine
11	chr19:40393000-40393200	Flanking Active TSS	HepG2	liver
12	chr19:40393000-40393800	Enhancers	Fetal Intestine Large	intestine
13	chr19:40393200-40393600	Enhancers	HepG2	liver
14	chr19:40393600-40393800	Active TSS	HepG2	liver
15	chr19:40393800-40404000	Weak transcription	Fetal Intestine Large	intestine
16	chr19:40396400-40404400	Weak transcription	Stomach Mucosa	stomach
17	chr19:40397400-40397800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:40397600-40397800	Weak transcription	Spleen	Spleen
19	chr19:40397600-40398000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:40397800-40398000	Enhancers	Fetal Muscle Trunk	muscle
21	chr19:40397800-40398000	Enhancers	Spleen	Spleen
22	chr19:40398000-40398800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:40398000-40402800	Weak transcription	Spleen	Spleen
24	chr19:40398000-40404000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:40399000-40399200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:40399000-40399200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr19:40399000-40399200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr19:40399000-40399200	Enhancers	Fetal Muscle Trunk	muscle
29	chr19:40399200-40399400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr19:40399200-40403800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:40399200-40404000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr19:40399200-40411800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:40399400-40403800	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr19:40400200-40410600	Weak transcription	Fetal Stomach	stomach
35	chr19:40401600-40403000	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr19:40402000-40404000	Weak transcription	Placenta	Placenta
37	chr19:40402000-40419600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr19:40402600-40403600	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr19:40402600-40404000	Enhancers	HepG2	liver
40	chr19:40402800-40403000	Enhancers	Spleen	Spleen
41	chr19:40402800-40404000	Strong transcription	Fetal Intestine Small	intestine
42	chr19:40402800-40406000	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr19:40403000-40403400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr19:40403000-40404000	Weak transcription	Spleen	Spleen
45	chr19:40403400-40404000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr19:40403600-40404000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:40403800-40404000	Weak transcription	Dnd41	blood
48	chr19:40403800-40404400	Enhancers	Thymus	Thymus
49	chr19:40403800-40404600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr19:40403800-40404600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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