Variant report

Variant	nsv963052
Chromosome Location	chr19:42218282-42224988
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42217628..42220315-chr19:42227201..42229825,2	MCF-7	breast:
2	chr19:42217425..42220224-chr19:42223601..42226493,2	MCF-7	breast:
3	chr19:42220661..42222319-chr19:42226659..42229003,2	MCF-7	breast:
4	chr19:42217425..42220224-chr19:42223601..42226493,2	MCF-7	breast:
5	chr19:42220181..42222450-chr19:42222480..42224741,2	K562	blood:
6	chr19:42220181..42222450-chr19:42222480..42224741,2	K562	blood:
7	chr19:42212097..42214736-chr19:42221136..42222812,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267881	chromatin interactions
ENSG00000105388	chromatin interactions

Extended variants
information (count: 366 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373566425	chr19:42218312-42218313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543966181	chr19:42218340-42218341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556263657	chr19:42218350-42218351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577668835	chr19:42218354-42218355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375981707	chr19:42218380-42218381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191911257	chr19:42218477-42218478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564393433	chr19:42218488-42218489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73545183	chr19:42218492-42218493	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs565355251	chr19:42218506-42218507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549995258	chr19:42218523-42218524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540955729	chr19:42218554-42218555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562120597	chr19:42218574-42218575	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529538546	chr19:42218591-42218592	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567958265	chr19:42218622-42218623	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550789346	chr19:42218628-42218629	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117488924	chr19:42218632-42218633	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533111634	chr19:42218656-42218657	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551385267	chr19:42218663-42218664	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77950622	chr19:42218676-42218677	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533832381	chr19:42218722-42218723	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138707706	chr19:42218754-42218755	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567335884	chr19:42218772-42218773	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73932033	chr19:42218775-42218776	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73932034	chr19:42218777-42218778	Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs16975540	chr19:42218782-42218783	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559489629	chr19:42218801-42218802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577833235	chr19:42218806-42218807	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142707493	chr19:42218824-42218825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs375603837	chr19:42218863-42218864	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553786973	chr19:42218868-42218869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367655969	chr19:42218873-42218874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201377769	chr19:42218889-42218890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373889998	chr19:42218908-42218909	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143589559	chr19:42218917-42218918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147341917	chr19:42218933-42218934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368068137	chr19:42218934-42218935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371758270	chr19:42218952-42218953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs60336130	chr19:42218975-42218976	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368142383	chr19:42218982-42218983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115472929	chr19:42218984-42218985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140663408	chr19:42219008-42219009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147510914	chr19:42219016-42219017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113097830	chr19:42219022-42219023	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138694037	chr19:42219023-42219024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549229149	chr19:42219050-42219051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544794929	chr19:42219057-42219058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562617012	chr19:42219085-42219086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17853315	chr19:42219093-42219094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533268241	chr19:42219099-42219100	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375538670	chr19:42219113-42219114	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42212000-42222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42216200-42221000	Weak transcription	Esophagus	oesophagus
3	chr19:42216200-42222400	Weak transcription	Stomach Mucosa	stomach
4	chr19:42216600-42228200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr19:42217200-42225800	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr19:42217800-42226400	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr19:42217800-42230200	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr19:42217800-42231200	Weak transcription	Fetal Intestine Small	intestine
9	chr19:42218000-42218600	Strong transcription	Colonic Mucosa	Colon
10	chr19:42218600-42218800	Genic enhancers	Colonic Mucosa	Colon
11	chr19:42218800-42226200	Strong transcription	Colonic Mucosa	Colon
12	chr19:42221000-42222000	Strong transcription	Esophagus	oesophagus
13	chr19:42221200-42221400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:42222000-42227800	Weak transcription	Esophagus	oesophagus
15	chr19:42222400-42223000	Strong transcription	Stomach Mucosa	stomach
16	chr19:42222800-42223000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:42223000-42230600	Weak transcription	Stomach Mucosa	stomach

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