Variant report

Variant	nsv962985
Chromosome Location	chr19:40220376-40228783
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	BACH1	chr19:40220520-40220648	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr19:40222311-40222662	GM12878	blood:	n/a	n/a
3	BCL3	chr19:40227965-40228346	GM12878	blood:	n/a	n/a
4	BCL3	chr19:40222329-40222619	GM12878	blood:	n/a	n/a
5	EGR1	chr19:40226813-40227024	K562	blood:	n/a	chr19:40226904-40226926 chr19:40226910-40226920 chr19:40226910-40226920 chr19:40226909-40226923 chr19:40226908-40226921 chr19:40226908-40226922 chr19:40226909-40226920 chr19:40226909-40226920
6	EGR1	chr19:40226800-40227011	K562	blood:	n/a	chr19:40226904-40226926 chr19:40226910-40226920 chr19:40226910-40226920 chr19:40226909-40226923 chr19:40226908-40226921 chr19:40226908-40226922 chr19:40226909-40226920 chr19:40226909-40226920
7	EGR1	chr19:40226829-40227000	GM12878	blood:	n/a	chr19:40226904-40226926 chr19:40226910-40226920 chr19:40226910-40226920 chr19:40226909-40226923 chr19:40226908-40226921 chr19:40226908-40226922 chr19:40226909-40226920 chr19:40226909-40226920
8	EGR1	chr19:40226809-40227006	GM12878	blood:	n/a	chr19:40226904-40226926 chr19:40226910-40226920 chr19:40226910-40226920 chr19:40226909-40226923 chr19:40226908-40226921 chr19:40226908-40226922 chr19:40226909-40226920 chr19:40226909-40226920
9	MYC	chr19:40228033-40228100	MCF-7	breast:	n/a	n/a
10	PBX3	chr19:40228058-40228295	GM12878	blood:	n/a	n/a
11	PBX3	chr19:40222409-40222633	GM12878	blood:	n/a	n/a
12	POLR2A	chr19:40222153-40222668	HL-60	blood:	n/a	n/a
13	RUNX3	chr19:40226707-40227037	GM12878	blood:	n/a	n/a
14	STAT3	chr19:40221802-40221913	MCF10A-Er-Src	breast:	n/a	n/a
15	TCF7L2	chr19:40221062-40221262	PANC-1	pancreas:	n/a	chr19:40221168-40221184 chr19:40221168-40221184 chr19:40221172-40221181
16	USF1	chr19:40220296-40220635	K562	blood:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
17	USF1	chr19:40220297-40220512	H1-hESC	embryonic stem cell:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
18	USF1	chr19:40220339-40220557	A549	lung:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
19	USF1	chr19:40220370-40220607	SK-N-SH	brain:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
20	USF1	chr19:40220327-40220566	K562	blood:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
21	USF1	chr19:40220244-40220576	A549	lung:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
22	USF1	chr19:40220318-40220557	H1-hESC	embryonic stem cell:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
23	USF1	chr19:40220307-40220501	ECC-1	luminal epithelium:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
24	USF1	chr19:40220347-40220528	SK-N-SH_RA	brain:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
25	USF1	chr19:40220318-40220518	HepG2	liver:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
26	USF1	chr19:40220254-40220521	ECC-1	luminal epithelium:	n/a	chr19:40220431-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220429-40220440 chr19:40220430-40220439
27	USF2	chr19:40220346-40220478	K562	blood:	n/a	chr19:40220431-40220440 chr19:40220429-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220430-40220439
28	USF2	chr19:40220304-40220543	Hela-S3	cervix:	n/a	chr19:40220431-40220440 chr19:40220429-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220430-40220439
29	USF2	chr19:40220279-40220533	HepG2	liver:	n/a	chr19:40220431-40220440 chr19:40220429-40220440 chr19:40220430-40220439 chr19:40220428-40220441 chr19:40220424-40220445 chr19:40220430-40220439

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40227949-40227999	AoSMC	blood vessel:	n/a
2	chr19:40227949-40227999	GM12892	blood:	n/a
3	chr19:40227949-40227999	Jurkat	blood:	n/a
4	chr19:40227949-40227999	HRPEpiC	eye:	n/a
5	chr19:40227949-40227999	HRCEpiC	kidney:	n/a
6	chr19:40227949-40227999	PrEC	prostate:	n/a
7	chr19:40227949-40227999	HepG2	liver:	n/a
8	chr19:40227949-40227999	GM12891	blood:	n/a
9	chr19:40227949-40227999	Caco-2	colon:	n/a
10	chr19:40227949-40227999	PFSK-1	brain:	n/a
11	chr19:40227949-40227999	NHBE	bronchial:	n/a
12	chr19:40227949-40227999	IMR90	lung:	fetal
13	chr19:40227949-40227999	HNPCEpiC	eye:	n/a
14	chr19:40227949-40227999	ovcar-3	ovarian:	n/a
15	chr19:40227949-40227999	HRE	kidney:	n/a
16	chr19:40227949-40227999	ProgFib	skin:	n/a
17	chr19:40227949-40227999	HCM	heart:	n/a
18	chr19:40227949-40227999	AG09319	gingival:	n/a
19	chr19:40227949-40227999	HCPEpiC	choroid plexus:	n/a
20	chr19:40227949-40227999	NT2-D1	testis:	n/a
21	chr19:40227949-40227999	LNCaP	prostate:	n/a
22	chr19:40227949-40227999	MCF-7	breast:	n/a
23	chr19:40227949-40227999	HUVEC	blood vessel:	n/a
24	chr19:40227949-40227999	RPTEC	kidney:	n/a
25	chr19:40227949-40227999	SAEC	small airway:	n/a
26	chr19:40227949-40227999	AG09309	skin:	n/a
27	chr19:40227949-40227999	SKMC	muscle:	n/a
28	chr19:40227949-40227999	HEEpiC	esophagus:	n/a
29	chr19:40227949-40227999	HCF	heart:	n/a
30	chr19:40227949-40227999	AG04450	lung:	fetal
31	chr19:40227949-40227999	NHDF-neo	bronchial:	n/a
32	chr19:40227949-40227999	ECC-1	luminal epithelium:	n/a
33	chr19:40227949-40227999	GM12878	blood:	n/a
34	chr19:40227949-40227999	HIPEpiC	eye:	n/a
35	chr19:40227949-40227999	U87	brain:	n/a
36	chr19:40227949-40227999	AG04449	skin:	fetal
37	chr19:40227949-40227999	HL-60	blood:	n/a
38	chr19:40227949-40227999	HPAEpiC	pulmonary alveolar:	n/a
39	chr19:40227949-40227999	HAEpiC	amniotic membrane:	n/a
40	chr19:40227949-40227999	H1-hESC	embryonic stem cell:	embryo
41	chr19:40227949-40227999	Hepatocyte	liver:	n/a
42	chr19:40227949-40227999	GM06990	blood:	n/a
43	chr19:40227949-40227999	T-47D	breast:	n/a
44	chr19:40227949-40227999	SK-N-SH_RA	brain:	n/a
45	chr19:40227949-40227999	BJ	skin:	n/a
46	chr19:40227949-40227999	NB4	blood:	n/a
47	chr19:40227949-40227999	SK-N-SH	brain:	n/a
48	chr19:40227949-40227999	A549	lung:	n/a
49	chr19:40227949-40227999	PANC-1	pancreas:	n/a
50	chr19:40227949-40227999	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40218825..40222024-chr19:40225949..40228732,3	K562	blood:
2	chr19:40219606..40222689-chr19:40225665..40231232,5	K562	blood:

Variant related genes	Relation type
CLC	TF binding region
CLC	CpG island
ENSG00000105205	chromatin interactions

Extended variants
information (count: 384 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:384 , 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	rs73559703	chr19:40220406-40220407	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538154284	chr19:40220426-40220427	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs425218	chr19:40220428-40220429	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532670146	chr19:40220452-40220453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577582837	chr19:40220456-40220457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs386809205	chr19:40220494-40220495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs112101798	chr19:40220495-40220496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs425265	chr19:40220496-40220497	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544238659	chr19:40220501-40220502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs147784400	chr19:40220585-40220586	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142618277	chr19:40220591-40220592	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs562525583	chr19:40220614-40220615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570916002	chr19:40220683-40220684	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190758341	chr19:40220701-40220702	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543760527	chr19:40220703-40220704	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs565152078	chr19:40220763-40220764	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs414423	chr19:40220764-40220765	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs551780791	chr19:40220765-40220766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs566743077	chr19:40220769-40220770	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs7248344	chr19:40220813-40220814	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs8101720	chr19:40220816-40220817	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs35837917	chr19:40220879-40220880	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538017120	chr19:40220906-40220907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs144963244	chr19:40220926-40220927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550046833	chr19:40221010-40221011	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375315853	chr19:40221015-40221016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147921660	chr19:40221026-40221027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183225611	chr19:40221027-40221028	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186204704	chr19:40221034-40221035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571903625	chr19:40221072-40221073	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77636567	chr19:40221075-40221076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs398101213	chr19:40221076-40221077	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs371280749	chr19:40221085-40221086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs431329	chr19:40221107-40221108	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs191499096	chr19:40221152-40221153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs576319334	chr19:40221155-40221156	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543676202	chr19:40221224-40221225	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs564908593	chr19:40221237-40221238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs532477432	chr19:40221291-40221292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs141772290	chr19:40221292-40221293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs367715676	chr19:40221305-40221306	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs150415914	chr19:40221317-40221318	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527652362	chr19:40221346-40221347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs428007	chr19:40221367-40221368	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs138223861	chr19:40221389-40221390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182350585	chr19:40221391-40221392	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs186683917	chr19:40221422-40221423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs375320386	chr19:40221437-40221438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539326488	chr19:40221441-40221442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs149175153	chr19:40221464-40221465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40219200-40221800	Weak transcription	GM12878-XiMat	blood
2	chr19:40219200-40225200	Weak transcription	Placenta	Placenta
3	chr19:40221800-40222200	Enhancers	GM12878-XiMat	blood
4	chr19:40222000-40222600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr19:40222200-40225600	Weak transcription	GM12878-XiMat	blood
6	chr19:40224600-40226600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr19:40225200-40226000	Enhancers	Placenta	Placenta
8	chr19:40225600-40229400	Enhancers	GM12878-XiMat	blood
9	chr19:40226000-40228600	Weak transcription	Placenta	Placenta
10	chr19:40226000-40228800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr19:40226200-40229200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr19:40226400-40227000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:40226400-40228200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr19:40226600-40227800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:40226800-40228800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr19:40227000-40227400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40227400-40228200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:40227800-40228200	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:40227800-40229600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:40228000-40228200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:40228000-40228400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:40228200-40229000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:40228200-40229000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:40228600-40230200	Enhancers	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links