Variant report

Variant	esv1337771
Chromosome Location	chr19:45304319-45305075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45303445..45304423-chr19:45348103..45348767,4	K562	blood:
2	chr19:45192137..45193058-chr19:45303449..45304435,2	K562	blood:
3	chr19:45303896..45305467-chr19:45346673..45349585,2	K562	blood:
4	chr19:45303416..45304388-chr19:45349472..45350115,2	K562	blood:
5	chr19:45304092..45306165-chr19:45346908..45348709,2	MCF-7	breast:
6	chr19:45303436..45304427-chr19:45347545..45348932,8	MCF-7	breast:
7	chr19:45303472..45304374-chr19:45347688..45348837,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130202	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541012177	chr19:45304320-45304321	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs12327720	chr19:45304322-45304323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77278382	chr19:45304343-45304344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56777358	chr19:45304354-45304355	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs78005198	chr19:45304379-45304380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs573595490	chr19:45304389-45304390	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375191608	chr19:45304403-45304404	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs78912376	chr19:45304415-45304416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs651672	chr19:45304461-45304462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs368252509	chr19:45304484-45304485	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74174286	chr19:45304543-45304544	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs542950893	chr19:45304587-45304588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs372246285	chr19:45304644-45304645	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562652426	chr19:45304808-45304809	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531489803	chr19:45304844-45304845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374943493	chr19:45304860-45304861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369038453	chr19:45304932-45304933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs371365755	chr19:45304943-45304944	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374683339	chr19:45304952-45304953	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551310744	chr19:45305004-45305005	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370100156	chr19:45305015-45305016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs373303576	chr19:45305027-45305028	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12976621	chr19:45305036-45305037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564937869	chr19:45305040-45305041	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12977054	chr19:45305051-45305052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Adrenocortical carcinoma	18281524	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Muscular dystrophy	17160897	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45281400-45311400	Weak transcription	Right Atrium	heart
2	chr19:45284600-45309800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:45284800-45311400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:45294200-45311600	Weak transcription	Small Intestine	intestine
5	chr19:45296200-45310600	Weak transcription	Colonic Mucosa	Colon
6	chr19:45296800-45311000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:45297000-45307200	Weak transcription	Lung	lung
8	chr19:45297000-45311800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:45298200-45310200	Weak transcription	Gastric	stomach
10	chr19:45299200-45307200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:45299200-45310200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr19:45300600-45310400	Weak transcription	Stomach Mucosa	stomach
13	chr19:45300600-45311400	Weak transcription	Psoas Muscle	Psoas
14	chr19:45302600-45305600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:45303400-45305400	Weak transcription	HMEC	breast
16	chr19:45303800-45305600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:45303800-45305600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:45303800-45307400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:45303800-45310600	Weak transcription	Hela-S3	cervix
20	chr19:45304000-45305200	Weak transcription	HepG2	liver
21	chr19:45304000-45305400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:45304000-45305400	Weak transcription	A549	lung
23	chr19:45304000-45305400	Weak transcription	NHEK	skin
24	chr19:45304000-45305600	Weak transcription	Liver	Liver
25	chr19:45304000-45305600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr19:45304000-45305600	Weak transcription	Fetal Intestine Large	intestine
27	chr19:45304000-45307000	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:45304000-45307000	Weak transcription	Fetal Stomach	stomach
29	chr19:45304000-45307400	Weak transcription	Spleen	Spleen
30	chr19:45304000-45309800	Weak transcription	Fetal Heart	heart
31	chr19:45304000-45310400	Weak transcription	Esophagus	oesophagus
32	chr19:45304000-45310400	Weak transcription	Pancreas	Pancrea
33	chr19:45304200-45306800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:45304200-45307000	Strong transcription	Fetal Intestine Small	intestine
35	chr19:45304200-45307000	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links