Variant report

Variant	nsv522530
Chromosome Location	chr19:39552150-39573918
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:328)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:39557823-39558068	HepG2	liver:	n/a	n/a
2	ATF2	chr19:39552082-39552557	GM12878	blood:	n/a	n/a
3	ATF3	chr19:39564200-39565314	A549	lung:	n/a	n/a
4	ATF3	chr19:39568971-39569949	A549	lung:	n/a	n/a
5	ATF3	chr19:39568916-39569709	A549	lung:	n/a	n/a
6	BATF	chr19:39552202-39552488	GM12878	blood:	n/a	n/a
7	BCL3	chr19:39552169-39552423	GM12878	blood:	n/a	n/a
8	BCL3	chr19:39568818-39569790	A549	lung:	n/a	n/a
9	BCL3	chr19:39564121-39565373	A549	lung:	n/a	n/a
10	BCLAF1	chr19:39552172-39552449	GM12878	blood:	n/a	n/a
11	BHLHE40	chr19:39564402-39564602	A549	lung:	n/a	n/a
12	CBX3	chr19:39568869-39569976	HCT-116	colon:	n/a	n/a
13	CBX3	chr19:39568085-39568286	K562	blood:	n/a	n/a
14	CEBPB	chr19:39563649-39565289	A549	lung:	n/a	chr19:39564643-39564654
15	CEBPB	chr19:39564324-39564794	A549	lung:	n/a	chr19:39564643-39564654
16	CEBPB	chr19:39569000-39570126	HCT-116	colon:	n/a	n/a
17	CEBPB	chr19:39568911-39570127	A549	lung:	n/a	n/a
18	CEBPB	chr19:39569153-39569873	A549	lung:	n/a	n/a
19	CEBPB	chr19:39564243-39564849	A549	lung:	n/a	chr19:39564643-39564654
20	CEBPB	chr19:39564109-39564906	HCT-116	colon:	n/a	chr19:39564643-39564654
21	CEBPB	chr19:39564220-39564762	Hela-S3	cervix:	n/a	chr19:39564643-39564654
22	CEBPB	chr19:39564501-39564754	HepG2	liver:	n/a	chr19:39564643-39564654
23	CEBPB	chr19:39557808-39557943	HepG2	liver:	n/a	n/a
24	CEBPB	chr19:39569136-39569870	IMR90	lung:	n/a	n/a
25	CEBPB	chr19:39564256-39564783	IMR90	lung:	n/a	chr19:39564643-39564654
26	CEBPB	chr19:39568867-39570119	HCT-116	colon:	n/a	n/a
27	CEBPB	chr19:39569591-39569950	MCF-7	breast:	n/a	n/a
28	CEBPB	chr19:39569041-39569986	A549	lung:	n/a	n/a
29	CREB1	chr19:39564277-39564797	HepG2	liver:	n/a	n/a
30	CREB1	chr19:39569220-39569518	A549	lung:	n/a	n/a
31	CREB1	chr19:39569563-39569878	A549	lung:	n/a	n/a
32	CREB1	chr19:39564175-39564710	A549	lung:	n/a	n/a
33	CREB1	chr19:39564224-39564667	A549	lung:	n/a	n/a
34	CUX1	chr19:39556965-39556998	GM12878	blood:	n/a	n/a
35	E2F4	chr19:39564567-39564632	MCF10A-Er-Src	breast:	n/a	n/a
36	E2F6	chr19:39563094-39563231	K562	blood:	n/a	n/a
37	EBF1	chr19:39564377-39564563	GM12878	blood:	n/a	n/a
38	EGR1	chr19:39566738-39566960	K562	blood:	n/a	n/a
39	EGR1	chr19:39566735-39566951	K562	blood:	n/a	n/a
40	EGR1	chr19:39566550-39567146	HCT-116	colon:	n/a	n/a
41	EGR1	chr19:39566584-39567470	HCT-116	colon:	n/a	n/a
42	ELK1	chr19:39564328-39564614	Hela-S3	cervix:	n/a	n/a
43	EP300	chr19:39569084-39569763	ECC-1	luminal epithelium:	n/a	n/a
44	EP300	chr19:39564325-39564570	SK-N-SH_RA	brain:	n/a	n/a
45	EP300	chr19:39561554-39562024	A549	lung:	n/a	chr19:39561693-39561702
46	EP300	chr19:39564206-39564853	SK-N-SH	brain:	n/a	n/a
47	EP300	chr19:39564147-39565436	A549	lung:	n/a	n/a
48	EP300	chr19:39568804-39570054	A549	lung:	n/a	n/a
49	EP300	chr19:39568950-39570064	SK-N-SH	brain:	n/a	n/a
50	EP300	chr19:39551792-39552464	SK-N-SH	brain:	n/a	chr19:39551886-39551900

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:39572000-39572050	A549	lung:	n/a
2	chr19:39572000-39572050	HCF	heart:	n/a
3	chr19:39572000-39572050	HCT-116	colon:	n/a
4	chr19:39572000-39572050	AoSMC	blood vessel:	n/a
5	chr19:39572000-39572050	ECC-1	luminal epithelium:	n/a
6	chr19:39572000-39572050	GM19239	blood:	n/a
7	chr19:39572000-39572050	HEEpiC	esophagus:	n/a
8	chr19:39572000-39572050	GM12878	blood:	n/a
9	chr19:39572000-39572050	HepG2	liver:	n/a
10	chr19:39572000-39572050	Hepatocyte	liver:	n/a
11	chr19:39572000-39572050	T-47D	breast:	n/a
12	chr19:39572000-39572050	HNPCEpiC	eye:	n/a
13	chr19:39572000-39572050	AG04449	skin:	fetal
14	chr19:39572000-39572050	PFSK-1	brain:	n/a
15	chr19:39572000-39572050	U87	brain:	n/a
16	chr19:39572000-39572050	HIPEpiC	eye:	n/a
17	chr19:39572000-39572050	IMR90	lung:	fetal
18	chr19:39572000-39572050	HCM	heart:	n/a
19	chr19:39572000-39572050	NB4	blood:	n/a
20	chr19:39572000-39572050	Jurkat	blood:	n/a
21	chr19:39572000-39572050	MCF10A-Er-Src	breast:	n/a
22	chr19:39572000-39572050	ProgFib	skin:	n/a
23	chr19:39572000-39572050	H1-hESC	embryonic stem cell:	embryo
24	chr19:39572000-39572050	SAEC	small airway:	n/a
25	chr19:39572000-39572050	NHDF-neo	bronchial:	n/a
26	chr19:39572000-39572050	SKMC	muscle:	n/a
27	chr19:39572000-39572050	BJ	skin:	n/a
28	chr19:39572000-39572050	HRE	kidney:	n/a
29	chr19:39572000-39572050	AG09319	gingival:	n/a
30	chr19:39572000-39572050	GM06990	blood:	n/a
31	chr19:39572000-39572050	SK-N-SH_RA	brain:	n/a
32	chr19:39572000-39572050	PrEC	prostate:	n/a
33	chr19:39572000-39572050	GM12892	blood:	n/a
34	chr19:39572000-39572050	HUVEC	blood vessel:	n/a
35	chr19:39572000-39572050	PANC-1	pancreas:	n/a
36	chr19:39572000-39572050	AG09309	skin:	n/a
37	chr19:39572000-39572050	HEK293	kidney:	embryo
38	chr19:39572000-39572050	CMK	blood:	n/a
39	chr19:39572000-39572050	GM12891	blood:	n/a
40	chr19:39572000-39572050	LNCaP	prostate:	n/a
41	chr19:39572000-39572050	HL-60	blood:	n/a
42	chr19:39572000-39572050	NT2-D1	testis:	n/a
43	chr19:39572000-39572050	BE2_C	brain:	n/a
44	chr19:39572000-39572050	NH-A	brain:	n/a
45	chr19:39572000-39572050	MCF-7	breast:	n/a
46	chr19:39572000-39572050	HAEpiC	amniotic membrane:	n/a
47	chr19:39572000-39572050	AG10803	skin:	n/a
48	chr19:39572000-39572050	SK-N-MC	brain:	n/a
49	chr19:39572000-39572050	ovcar-3	ovarian:	n/a
50	chr19:39572000-39572050	Hela-S3	cervix:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39566476..39569362-chr19:39573517..39575848,2	K562	blood:
2	chr19:39522794..39525227-chr19:39570722..39573005,2	MCF-7	breast:
3	chr19:39572549..39576644-chr19:39655893..39659798,4	MCF-7	breast:
4	chr19:39565899..39568671-chr3:161088109..161090760,2	MCF-7	breast:
5	chr19:39526693..39529184-chr19:39566725..39569356,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC011443.1-1	chr19:39572421-39575494	expReg_chr19_5096_+
2	lnc-AC011443.1-2	chr19:39565090-39565638	expReg_chr19_5095_+

No data

Variant related genes	Relation type
ENSG00000183760	TF binding region
ENSG00000183760	CpG island
ENSG00000161243	chromatin interactions
ENSG00000130669	chromatin interactions
ENSG00000183760	chromatin interactions
ENSG00000196542	chromatin interactions

Extended variants
information (count: 993 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4803197	chr19:39552150-39552151	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs543604223	chr19:39552169-39552170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4802015	chr19:39552222-39552223	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs79198222	chr19:39552242-39552243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184296167	chr19:39552256-39552257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552842965	chr19:39552270-39552271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539296822	chr19:39552334-39552335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111263871	chr19:39552336-39552337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs60494616	chr19:39552337-39552338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73043596	chr19:39552338-39552339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570762124	chr19:39552350-39552351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74325809	chr19:39552373-39552374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565795224	chr19:39552376-39552377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111876422	chr19:39552377-39552378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs3083188	chr19:39552379-39552380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56720463	chr19:39552464-39552465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs373470536	chr19:39552509-39552510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80077113	chr19:39552522-39552523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139589577	chr19:39552531-39552532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189629303	chr19:39552610-39552611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115161137	chr19:39552631-39552632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181869837	chr19:39552663-39552664	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73043600	chr19:39552665-39552666	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7250655	chr19:39552674-39552675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs568550335	chr19:39552768-39552769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199747474	chr19:39552777-39552778	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114633581	chr19:39552797-39552798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145546038	chr19:39552846-39552847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554254970	chr19:39552903-39552904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397698751	chr19:39552915-39552916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs367580145	chr19:39552916-39552917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576703410	chr19:39552935-39552936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142664679	chr19:39552946-39552947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374356755	chr19:39552974-39552975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs691890	chr19:39552976-39552977	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374062318	chr19:39553024-39553025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147570274	chr19:39553037-39553038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541181483	chr19:39553054-39553055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34716826	chr19:39553086-39553087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554774477	chr19:39553105-39553106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112193419	chr19:39553132-39553133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138720760	chr19:39553146-39553147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573092381	chr19:39553218-39553219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548590726	chr19:39553228-39553229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150247587	chr19:39553229-39553230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138873332	chr19:39553269-39553270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550105865	chr19:39553281-39553282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571516802	chr19:39553288-39553289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538885780	chr19:39553315-39553316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539347557	chr19:39553316-39553317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39545200-39564400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:39545600-39560400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr19:39545800-39553600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:39549800-39558800	Weak transcription	Right Atrium	heart
5	chr19:39551800-39552600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:39551800-39552600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:39552000-39552400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr19:39552000-39552400	Enhancers	A549	lung
9	chr19:39552000-39552600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr19:39552000-39552800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:39552400-39554800	Weak transcription	A549	lung
12	chr19:39552600-39554600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:39553600-39553800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:39554600-39556000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr19:39554800-39555800	Enhancers	A549	lung
16	chr19:39555000-39555400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr19:39555000-39555600	Enhancers	Brain Anterior Caudate	brain
18	chr19:39555200-39555600	Enhancers	Brain Hippocampus Middle	brain
19	chr19:39555200-39555800	Enhancers	Brain Cingulate Gyrus	brain
20	chr19:39555400-39556600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:39555600-39556600	Weak transcription	Brain Hippocampus Middle	brain
22	chr19:39555800-39558800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:39556000-39560400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr19:39556000-39561000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr19:39556600-39557000	Enhancers	Brain Hippocampus Middle	brain
26	chr19:39556600-39557200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr19:39557000-39558200	Enhancers	HepG2	liver
28	chr19:39557000-39564400	Weak transcription	Brain Hippocampus Middle	brain
29	chr19:39557200-39561200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr19:39558800-39559000	Enhancers	Brain Cingulate Gyrus	brain
31	chr19:39560400-39562000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:39560400-39562400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:39561000-39562200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr19:39561200-39561400	Enhancers	A549	lung
35	chr19:39561200-39561800	Enhancers	Osteobl	bone
36	chr19:39561200-39562000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:39561200-39562000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr19:39561200-39562000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:39561200-39562000	Enhancers	NHEK	skin
40	chr19:39561200-39562400	Enhancers	HMEC	breast
41	chr19:39561400-39561600	Enhancers	Pancreas	Pancrea
42	chr19:39561400-39561800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:39561400-39562000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:39561400-39562000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr19:39561400-39562000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:39561400-39562000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:39561400-39562000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:39561400-39562000	Enhancers	Placenta	Placenta
49	chr19:39561400-39562000	Flanking Active TSS	A549	lung
50	chr19:39561600-39561800	Enhancers	Muscle Satellite Cultured Cells	--

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