Variant report

Variant	nsv960845
Chromosome Location	chr19:42300606-42302431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42301993-42302045	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr19:42301580-42301625	Fibrobl	skin:	n/a	n/a
3	CTCF	chr19:42301971-42302071	K562	blood:	n/a	n/a
4	POLR2A	chr19:42301772-42301912	ProgFib	skin:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42300812-42300862	K562	blood:	n/a
2	chr19:42300812-42300862	SAEC	small airway:	n/a
3	chr19:42300812-42300862	Jurkat	blood:	n/a
4	chr19:42300812-42300862	Caco-2	colon:	n/a
5	chr19:42300812-42300862	U87	brain:	n/a
6	chr19:42300812-42300862	HCT-116	colon:	n/a
7	chr19:42300812-42300862	NHDF-neo	bronchial:	n/a
8	chr19:42300812-42300862	ovcar-3	ovarian:	n/a
9	chr19:42300812-42300862	SK-N-SH_RA	brain:	n/a
10	chr19:42300812-42300862	ProgFib	skin:	n/a
11	chr19:42300812-42300862	BJ	skin:	n/a
12	chr19:42300812-42300862	HRPEpiC	eye:	n/a
13	chr19:42300812-42300862	MCF-7	breast:	n/a
14	chr19:42300812-42300862	LNCaP	prostate:	n/a
15	chr19:42300812-42300862	AG04450	lung:	fetal
16	chr19:42300812-42300862	AoSMC	blood vessel:	n/a
17	chr19:42300812-42300862	AG09319	gingival:	n/a
18	chr19:42300812-42300862	NH-A	brain:	n/a
19	chr19:42300812-42300862	SKMC	muscle:	n/a
20	chr19:42300812-42300862	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:42300812-42300862	HepG2	liver:	n/a
22	chr19:42300812-42300862	IMR90	lung:	fetal
23	chr19:42300812-42300862	HEEpiC	esophagus:	n/a
24	chr19:42300812-42300862	HMEC	breast:	n/a
25	chr19:42300812-42300862	HNPCEpiC	eye:	n/a
26	chr19:42300812-42300862	AG10803	skin:	n/a
27	chr19:42300812-42300862	NT2-D1	testis:	n/a
28	chr19:42300812-42300862	HIPEpiC	eye:	n/a
29	chr19:42300812-42300862	HL-60	blood:	n/a
30	chr19:42300812-42300862	HCM	heart:	n/a
31	chr19:42300812-42300862	Hela-S3	cervix:	n/a
32	chr19:42300812-42300862	Hepatocyte	liver:	n/a
33	chr19:42300812-42300862	PrEC	prostate:	n/a
34	chr19:42300812-42300862	GM06990	blood:	n/a
35	chr19:42300812-42300862	GM12892	blood:	n/a
36	chr19:42300812-42300862	HUVEC	blood vessel:	n/a
37	chr19:42300812-42300862	HEK293	kidney:	embryo
38	chr19:42300812-42300862	PANC-1	pancreas:	n/a
39	chr19:42300812-42300862	HCF	heart:	n/a
40	chr19:42300812-42300862	SK-N-MC	brain:	n/a
41	chr19:42300812-42300862	NB4	blood:	n/a
42	chr19:42300812-42300862	CMK	blood:	n/a
43	chr19:42300812-42300862	GM12891	blood:	n/a
44	chr19:42300812-42300862	GM12878	blood:	n/a
45	chr19:42300812-42300862	RPTEC	kidney:	n/a
46	chr19:42300812-42300862	SK-N-SH	brain:	n/a
47	chr19:42300812-42300862	BE2_C	brain:	n/a
48	chr19:42300812-42300862	AG09309	skin:	n/a
49	chr19:42300812-42300862	HCPEpiC	choroid plexus:	n/a
50	chr19:42300812-42300862	NHBE	bronchial:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42298906..42300708-chr19:42300854..42302944,2	MCF-7	breast:
2	chr19:42253269..42255875-chr19:42299289..42301420,2	MCF-7	breast:
3	chr19:42298906..42300708-chr19:42300854..42302944,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRTC2-2	chr19:42300522-42300673	NR_102333
2	lnc-DMRTC2-2	chr19:42301521-42301880	NR_102333

No data

Variant related genes	Relation type
CEACAM3	TF binding region
CEACAM3	CpG island
ENSG00000170956	chromatin interactions
ENSG00000086548	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs267605503	chr19:42300612-42300613	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs143094016	chr19:42300621-42300622	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs1041999	chr19:42300628-42300629	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs374252282	chr19:42300636-42300637	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs542097412	chr19:42300640-42300641	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs377467224	chr19:42300653-42300654	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs201182929	chr19:42300656-42300657	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs147069793	chr19:42300658-42300659	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs530713790	chr19:42300688-42300689	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376612840	chr19:42300707-42300708	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs375545632	chr19:42300710-42300711	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs189808463	chr19:42300742-42300743	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181408377	chr19:42300746-42300747	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs528149788	chr19:42300756-42300757	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs546692499	chr19:42300797-42300798	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567680450	chr19:42300812-42300813	Enhancers Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs528862598	chr19:42300825-42300826	Enhancers Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs548470286	chr19:42300845-42300846	Enhancers Flanking Active TSS Active TSS Weak transcription	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs570055264	chr19:42300885-42300886	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537636801	chr19:42300901-42300902	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs186216142	chr19:42300919-42300920	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs55711976	chr19:42300980-42300981	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111484024	chr19:42301028-42301029	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553435261	chr19:42301090-42301091	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189547240	chr19:42301146-42301147	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542282768	chr19:42301153-42301154	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557275540	chr19:42301283-42301284	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs56064499	chr19:42301285-42301286	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs145881379	chr19:42301316-42301317	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371663696	chr19:42301336-42301337	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535224207	chr19:42301339-42301340	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs564095742	chr19:42301346-42301347	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs113179918	chr19:42301354-42301355	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181010839	chr19:42301383-42301384	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs56060480	chr19:42301412-42301413	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561494451	chr19:42301446-42301447	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528850194	chr19:42301465-42301466	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs367548029	chr19:42301487-42301488	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370207300	chr19:42301488-42301489	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368963493	chr19:42301506-42301507	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs550196605	chr19:42301512-42301513	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs373917134	chr19:42301546-42301547	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs563618197	chr19:42301573-42301574	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs138437996	chr19:42301591-42301592	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs375018257	chr19:42301592-42301593	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs141744882	chr19:42301636-42301637	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs201417987	chr19:42301651-42301652	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs150578893	chr19:42301662-42301663	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs199568678	chr19:42301666-42301667	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs61738270	chr19:42301685-42301686	Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42290200-42305200	Weak transcription	Fetal Thymus	thymus
2	chr19:42297000-42303000	Weak transcription	Esophagus	oesophagus
3	chr19:42298400-42303600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr19:42298800-42307400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:42299000-42305000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:42299000-42305200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr19:42299400-42302200	Weak transcription	GM12878-XiMat	blood
8	chr19:42300000-42300800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr19:42300000-42303800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr19:42300200-42301600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr19:42300400-42300800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr19:42300600-42301400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:42300800-42303800	Active TSS	Primary hematopoietic stem cells	blood
14	chr19:42300800-42305000	Active TSS	Primary B cells from cord blood	blood
15	chr19:42300800-42305200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:42301400-42301600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:42301600-42305000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:42301600-42306600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:42302200-42303400	Enhancers	GM12878-XiMat	blood
20	chr19:42302400-42303200	Enhancers	Lung	lung

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