Variant report

Variant	esv1797029
Chromosome Location	chr19:40388294-40389421
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	chr19:40371890..40372866-chr19:40388384..40389142,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28555472	chr19:40388294-40388295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575421677	chr19:40388295-40388296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543804779	chr19:40388296-40388297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28377854	chr19:40388305-40388306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527800818	chr19:40388331-40388332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377622618	chr19:40388332-40388333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565096394	chr19:40388370-40388371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144510741	chr19:40388388-40388389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs59086787	chr19:40388390-40388391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs60449898	chr19:40388391-40388392	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs559553591	chr19:40388408-40388409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs58173974	chr19:40388420-40388421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548343863	chr19:40388421-40388422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10405469	chr19:40388434-40388435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563640517	chr19:40388443-40388444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531071303	chr19:40388448-40388449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28711395	chr19:40388462-40388463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs552190708	chr19:40388535-40388536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28360796	chr19:40388539-40388540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577746108	chr19:40388547-40388548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74403627	chr19:40388570-40388571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76517950	chr19:40388600-40388601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546703567	chr19:40388601-40388602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386809224	chr19:40388611-40388612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs62108869	chr19:40388612-40388613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201854390	chr19:40388613-40388614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77587264	chr19:40388622-40388623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78480076	chr19:40388625-40388626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575507463	chr19:40388630-40388631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77074671	chr19:40388632-40388633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575579842	chr19:40388697-40388698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558959666	chr19:40388829-40388830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7251287	chr19:40388839-40388840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs559439284	chr19:40388890-40388891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201562636	chr19:40388891-40388892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs182512346	chr19:40388899-40388900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542026955	chr19:40388916-40388917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187235652	chr19:40388983-40388984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs142361542	chr19:40388996-40388997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377075923	chr19:40388998-40388999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587717760	chr19:40389076-40389077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587619067	chr19:40389079-40389080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587696793	chr19:40389150-40389151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145427283	chr19:40389165-40389166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs62108871	chr19:40389168-40389169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587754166	chr19:40389189-40389190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587654173	chr19:40389200-40389201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587689006	chr19:40389201-40389202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374409721	chr19:40389236-40389237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs376272106	chr19:40389269-40389270	Weak transcription Enhancers	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
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

Chromatin state (count:12 , 50 per page) page: 1

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	chr19:40388200-40389600	Enhancers	HepG2	liver
7	chr19:40388400-40388800	Enhancers	Primary T cells fromperipheralblood	blood
8	chr19:40388400-40388800	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:40388400-40388800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr19:40388400-40388800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:40388800-40399000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr19:40389400-40389800	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links