Variant report

Variant	nsv482221
Chromosome Location	chr19:43084395-43099082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:123)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:43097919-43098273	A549	lung:	n/a	chr19:43098079-43098092 chr19:43098079-43098090
2	CEBPB	chr19:43097951-43098246	HepG2	liver:	n/a	chr19:43098079-43098092 chr19:43098079-43098090
3	CEBPB	chr19:43098008-43098186	IMR90	lung:	n/a	chr19:43098079-43098092 chr19:43098079-43098090
4	CEBPB	chr19:43097979-43098209	K562	blood:	n/a	chr19:43098079-43098092 chr19:43098079-43098090
5	CTCF	chr19:43098920-43098983	NHEK	skin:	n/a	n/a
6	CTCF	chr19:43094373-43094469	MCF-7	breast:	n/a	chr19:43094438-43094451 chr19:43094437-43094458
7	CTCF	chr19:43098921-43098989	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr19:43098900-43099050	Caco-2	colon:	n/a	n/a
9	CTCF	chr19:43098881-43099034	GM12891	blood:	n/a	n/a
10	CTCF	chr19:43094320-43094470	HepG2	liver:	n/a	chr19:43094438-43094451 chr19:43094437-43094458
11	CTCF	chr19:43098840-43099095	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr19:43098903-43098999	K562	blood:	n/a	n/a
13	CTCF	chr19:43097820-43097970	SAEC	small airway:	n/a	n/a
14	CTCF	chr19:43098932-43099001	GM19238	blood:	n/a	n/a
15	CTCF	chr19:43098888-43099051	MCF-7	breast:	n/a	n/a
16	CTCF	chr19:43098840-43098990	GM06990	blood:	n/a	n/a
17	CTCF	chr19:43094420-43094570	HEK293	kidney:	n/a	chr19:43094438-43094451 chr19:43094437-43094458
18	CTCF	chr19:43098900-43099050	K562	blood:	n/a	n/a
19	CTCF	chr19:43098840-43098990	A549	lung:	n/a	n/a
20	CTCF	chr19:43098920-43099005	HepG2	liver:	n/a	n/a
21	CTCF	chr19:43098882-43099020	MCF-7	breast:	n/a	n/a
22	CTCF	chr19:43094460-43094610	A549	lung:	n/a	n/a
23	CTCF	chr19:43098887-43099031	MCF-7	breast:	n/a	n/a
24	CTCF	chr19:43098880-43099030	HepG2	liver:	n/a	n/a
25	CTCF	chr19:43094386-43094425	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr19:43098820-43098970	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr19:43098820-43098970	HEK293	kidney:	n/a	n/a
28	CTCF	chr19:43098860-43099010	GM12865	blood:	n/a	n/a
29	CTCF	chr19:43094393-43094475	MCF-7	breast:	n/a	chr19:43094438-43094451 chr19:43094437-43094458
30	CTCF	chr19:43094356-43094492	MCF-7	breast:	n/a	chr19:43094438-43094451 chr19:43094437-43094458
31	CTCF	chr19:43098827-43099048	HepG2	liver:	n/a	n/a
32	CTCF	chr19:43098883-43099054	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr19:43098840-43098990	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr19:43098907-43098989	MCF-7	breast:	n/a	n/a
35	CTCF	chr19:43098660-43098810	SAEC	small airway:	n/a	n/a
36	CTCF	chr19:43098917-43099007	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:43098926-43098965	GM12892	blood:	n/a	n/a
38	EBF1	chr19:43088514-43088635	GM12878	blood:	n/a	n/a
39	JUND	chr19:43093156-43093358	HepG2	liver:	n/a	chr19:43093216-43093225
40	POLR2A	chr19:43092168-43092182	MCF-7	breast:	n/a	n/a
41	POLR2A	chr19:43093554-43093820	MCF-7	breast:	n/a	n/a
42	POLR2A	chr19:43092140-43092150	MCF-7	breast:	n/a	n/a
43	RAD21	chr19:43098736-43099050	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr19:43098860-43099051	HepG2	liver:	n/a	n/a
45	RAD21	chr19:43098942-43098989	H1-hESC	embryonic stem cell:	n/a	n/a
46	SPI1	chr19:43091049-43091445	HL-60	blood:	n/a	n/a
47	SPI1	chr19:43095428-43095802	HL-60	blood:	n/a	chr19:43095562-43095569
48	TCF7L2	chr19:43092327-43092363	Hela-S3	cervix:	n/a	n/a
49	USF2	chr19:43098375-43098425	H1-hESC	embryonic stem cell:	n/a	n/a
50	USF2	chr19:43096272-43096282	HepG2	liver:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43099046-43099096	HAEpiC	amniotic membrane:	n/a
2	chr19:43099046-43099096	HAEpiC	amniotic membrane:	n/a
3	chr19:43099046-43099096	Hepatocyte	liver:	n/a
4	chr19:43099046-43099096	BE2_C	brain:	n/a
5	chr19:43099046-43099096	HRCEpiC	kidney:	n/a
6	chr19:43099046-43099096	ovcar-3	ovarian:	n/a
7	chr19:43085416-43085466	A549	lung:	n/a
8	chr19:43085416-43085466	NHDF-neo	bronchial:	n/a
9	chr19:43085416-43085466	PANC-1	pancreas:	n/a
10	chr19:43085416-43085466	HRE	kidney:	n/a
11	chr19:43099046-43099096	HCT-116	colon:	n/a
12	chr19:43099046-43099096	LNCaP	prostate:	n/a
13	chr19:43099046-43099096	MCF-7	breast:	n/a
14	chr19:43085416-43085466	HRCEpiC	kidney:	n/a
15	chr19:43099046-43099096	IMR90	lung:	fetal
16	chr19:43085416-43085466	H1-hESC	embryonic stem cell:	embryo
17	chr19:43099046-43099096	HCM	heart:	n/a
18	chr19:43085416-43085466	BE2_C	brain:	n/a
19	chr19:43099046-43099096	Hela-S3	cervix:	n/a
20	chr19:43085416-43085466	AG04450	lung:	fetal
21	chr19:43099046-43099096	H1-hESC	embryonic stem cell:	embryo
22	chr19:43099046-43099096	HPAEpiC	pulmonary alveolar:	n/a
23	chr19:43099046-43099096	NT2-D1	testis:	n/a
24	chr19:43099046-43099096	SK-N-SH	brain:	n/a
25	chr19:43085416-43085466	HL-60	blood:	n/a
26	chr19:43085416-43085466	ECC-1	luminal epithelium:	n/a
27	chr19:43085416-43085466	U87	brain:	n/a
28	chr19:43099046-43099096	HUVEC	blood vessel:	n/a
29	chr19:43085416-43085466	GM12892	blood:	n/a
30	chr19:43085416-43085466	RPTEC	kidney:	n/a
31	chr19:43099046-43099096	BJ	skin:	n/a
32	chr19:43085416-43085466	AG04449	skin:	fetal
33	chr19:43099046-43099096	SKMC	muscle:	n/a
34	chr19:43085416-43085466	GM19239	blood:	n/a
35	chr19:43085416-43085466	ProgFib	skin:	n/a
36	chr19:43099046-43099096	AG10803	skin:	n/a
37	chr19:43085416-43085466	GM12878	blood:	n/a
38	chr19:43099046-43099096	AG04449	skin:	fetal
39	chr19:43085416-43085466	HCM	heart:	n/a
40	chr19:43099046-43099096	ECC-1	luminal epithelium:	n/a
41	chr19:43099046-43099096	RPTEC	kidney:	n/a
42	chr19:43099046-43099096	NHBE	bronchial:	n/a
43	chr19:43085416-43085466	GM06990	blood:	n/a
44	chr19:43099046-43099096	AoSMC	blood vessel:	n/a
45	chr19:43099046-43099096	HEEpiC	esophagus:	n/a
46	chr19:43085416-43085466	HepG2	liver:	n/a
47	chr19:43099046-43099096	HRE	kidney:	n/a
48	chr19:43099046-43099096	HEK293	kidney:	embryo
49	chr19:43099046-43099096	SAEC	small airway:	n/a
50	chr19:43099046-43099096	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:43086009..43087735-chr19:43091658..43093226,2	MCF-7	breast:
2	chr19:43086009..43087735-chr19:43091658..43093226,2	MCF-7	breast:
3	chr19:43092830..43095599-chr19:43097248..43100120,2	K562	blood:

No data

Variant related genes	Relation type
CEACAM8	TF binding region
CEACAM8	CpG island
ENSG00000124469	chromatin interactions

Extended variants
information (count: 580 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:580 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184895640	chr19:43084406-43084407	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564680114	chr19:43084408-43084409	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527302962	chr19:43084430-43084431	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189408163	chr19:43084475-43084476	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139996497	chr19:43084481-43084482	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374171388	chr19:43084546-43084547	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529765618	chr19:43084579-43084580	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549560814	chr19:43084604-43084605	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs143477715	chr19:43084616-43084617	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117250901	chr19:43084617-43084618	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374324883	chr19:43084669-43084670	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558815581	chr19:43084677-43084678	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs45513692	chr19:43084769-43084770	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs367947323	chr19:43084804-43084805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62112065	chr19:43084816-43084817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577498643	chr19:43084823-43084824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538561610	chr19:43084834-43084835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535005553	chr19:43084864-43084865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547474686	chr19:43084877-43084878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145571453	chr19:43084961-43084962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574875078	chr19:43084962-43084963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148443621	chr19:43084971-43084972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557548650	chr19:43085020-43085021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373906867	chr19:43085057-43085058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577518258	chr19:43085074-43085075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546492886	chr19:43085080-43085081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557088455	chr19:43085089-43085090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560009513	chr19:43085096-43085097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528817099	chr19:43085140-43085141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560120961	chr19:43085163-43085164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540998902	chr19:43085205-43085206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34985857	chr19:43085231-43085232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200413035	chr19:43085232-43085233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371566730	chr19:43085288-43085289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560765944	chr19:43085332-43085333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529728761	chr19:43085352-43085353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181016676	chr19:43085375-43085376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs45551231	chr19:43085376-43085377	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532193168	chr19:43085479-43085480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374102000	chr19:43085633-43085634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565945389	chr19:43085685-43085686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534659862	chr19:43085709-43085710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548555219	chr19:43085770-43085771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142575798	chr19:43085775-43085776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs367682592	chr19:43085786-43085787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371401725	chr19:43085808-43085809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557514060	chr19:43085867-43085868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185297005	chr19:43085903-43085904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540022019	chr19:43085935-43085936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553318149	chr19:43086019-43086020	Weak transcription	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
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
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43081400-43100600	Weak transcription	Spleen	Spleen
2	chr19:43084200-43084800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
3	chr19:43084800-43085400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr19:43085400-43086200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:43086200-43088000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
6	chr19:43088000-43092200	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr19:43088400-43088800	Bivalent Enhancer	Primary B cells from cord blood	blood
8	chr19:43088400-43089400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr19:43088800-43089400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr19:43090200-43091200	Bivalent Enhancer	Primary B cells from cord blood	blood
11	chr19:43092200-43094400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
12	chr19:43094200-43094400	Enhancers	Primary B cells from cord blood	blood
13	chr19:43094400-43095400	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:43094400-43100200	Weak transcription	Primary B cells from cord blood	blood
15	chr19:43095400-43096400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr19:43096400-43096800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr19:43096800-43097400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:43096800-43099000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr19:43097400-43097800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr19:43097800-43099200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links