Variant report

Variant	nsv961159
Chromosome Location	chr19:42113316-42119215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:42118832-42119191	MCF-7	breast:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
2	CEBPB	chr19:42118854-42119215	HepG2	liver:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
3	CEBPB	chr19:42118871-42119193	IMR90	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
4	CEBPB	chr19:42118781-42119295	A549	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
5	CEBPB	chr19:42118846-42119235	Hela-S3	cervix:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
6	CEBPB	chr19:42118851-42119181	K562	blood:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
7	CEBPB	chr19:42118845-42119213	A549	lung:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
8	CTCF	chr19:42116905-42116911	ProgFib	skin:	n/a	n/a
9	MAFF	chr19:42114151-42114296	K562	blood:	n/a	chr19:42114216-42114234
10	MAFF	chr19:42114095-42114369	HepG2	liver:	n/a	chr19:42114216-42114234
11	MAFF	chr19:42119018-42119054	HepG2	liver:	n/a	n/a
12	MAFK	chr19:42114137-42114253	K562	blood:	n/a	chr19:42114218-42114233
13	MAFK	chr19:42119000-42119078	HepG2	liver:	n/a	n/a
14	MAFK	chr19:42114072-42114390	IMR90	lung:	n/a	chr19:42114218-42114233
15	MAFK	chr19:42114084-42114303	HepG2	liver:	n/a	chr19:42114218-42114233
16	MAFK	chr19:42114052-42114383	HepG2	liver:	n/a	chr19:42114218-42114233
17	POLR2A	chr19:42118811-42119286	HL-60	blood:	n/a	n/a
18	POLR2A	chr19:42118872-42119260	HL-60	blood:	n/a	n/a
19	REST	chr19:42118759-42119270	HL-60	blood:	n/a	n/a
20	STAT3	chr19:42114578-42114873	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
2	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:

Variant related genes	Relation type
DNAJC19P2	TF binding region

Extended variants
information (count: 206 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:206 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180713279	chr19:42113340-42113341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs150239618	chr19:42113341-42113342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544890337	chr19:42113375-42113376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187251526	chr19:42113399-42113400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35074170	chr19:42113406-42113407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192169040	chr19:42113419-42113420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138827694	chr19:42113429-42113430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554901929	chr19:42113445-42113446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs3843748	chr19:42113529-42113530	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs536822127	chr19:42113607-42113608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183297205	chr19:42113666-42113667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3842957	chr19:42113672-42113673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74521762	chr19:42113731-42113732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552647443	chr19:42113735-42113736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs79624293	chr19:42113741-42113742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs563191307	chr19:42113743-42113744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34687495	chr19:42113851-42113852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541463800	chr19:42113873-42113874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149368212	chr19:42113912-42113913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531910840	chr19:42113935-42113936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543626810	chr19:42113941-42113942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565490590	chr19:42113958-42113959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117154961	chr19:42113968-42113969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77280523	chr19:42114078-42114079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs547876125	chr19:42114085-42114086	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs3030837	chr19:42114152-42114153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs6508985	chr19:42114175-42114176	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs397822689	chr19:42114180-42114181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs548390229	chr19:42114183-42114184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs58485959	chr19:42114186-42114187	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs138171641	chr19:42114336-42114337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs547382571	chr19:42114343-42114344	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142760875	chr19:42114375-42114376	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs146042128	chr19:42114420-42114421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11671145	chr19:42114437-42114438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537365400	chr19:42114453-42114454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558424262	chr19:42114454-42114455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2317315	chr19:42114487-42114488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs575489019	chr19:42114497-42114498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187623247	chr19:42114508-42114509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552640677	chr19:42114530-42114531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574226310	chr19:42114542-42114543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190589507	chr19:42114602-42114603	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs76794522	chr19:42114652-42114653	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs576294590	chr19:42114683-42114684	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs182827798	chr19:42114711-42114712	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs565292271	chr19:42114730-42114731	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs532740261	chr19:42114741-42114742	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368168469	chr19:42114751-42114752	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs541305399	chr19:42114767-42114768	Weak transcription	TF binding region	1 gene(s)	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
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
Schizophrenia	18511947	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42104200-42115000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr19:42115000-42115400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr19:42115400-42117200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr19:42117000-42117400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:42117000-42117800	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr19:42117200-42121400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr19:42117400-42118600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr19:42117800-42118800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr19:42118200-42131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:42118400-42119400	Enhancers	Primary B cells from cord blood	blood
11	chr19:42118600-42119800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr19:42118800-42119600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr19:42118800-42125200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr19:42119200-42119400	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links