Variant report

Variant	nsv911805
Chromosome Location	chr19:42919405-42927065
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:439)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42924330-42924562	HepG2	liver:	n/a	n/a
2	ATF1	chr19:42924212-42924515	K562	blood:	n/a	n/a
3	ATF2	chr19:42924128-42924576	GM12878	blood:	n/a	n/a
4	ATF2	chr19:42924079-42924520	GM12878	blood:	n/a	n/a
5	ATF2	chr19:42927036-42927474	GM12878	blood:	n/a	n/a
6	ATF2	chr19:42924079-42924489	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr19:42924180-42924506	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr19:42926950-42927301	GM12878	blood:	n/a	n/a
9	BCL3	chr19:42926895-42928320	A549	lung:	n/a	chr19:42927843-42927856 chr19:42927842-42927851 chr19:42927888-42927897 chr19:42927855-42927864
10	BHLHE40	chr19:42924237-42924629	HepG2	liver:	n/a	n/a
11	BHLHE40	chr19:42924241-42924627	K562	blood:	n/a	n/a
12	BHLHE40	chr19:42924258-42924559	GM12878	blood:	n/a	n/a
13	CBX3	chr19:42924195-42924446	K562	blood:	n/a	n/a
14	CBX3	chr19:42924093-42924544	K562	blood:	n/a	n/a
15	CEBPB	chr19:42924274-42924832	IMR90	lung:	n/a	n/a
16	CEBPB	chr19:42924172-42924596	A549	lung:	n/a	n/a
17	CEBPB	chr19:42924216-42924428	HepG2	liver:	n/a	n/a
18	CEBPB	chr19:42924184-42924488	K562	blood:	n/a	n/a
19	CEBPB	chr19:42924097-42924517	MCF-7	breast:	n/a	n/a
20	CEBPB	chr19:42925771-42926067	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr19:42924156-42924559	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr19:42923999-42924906	IMR90	lung:	n/a	n/a
23	CHD1	chr19:42926733-42928070	GM12878	blood:	n/a	n/a
24	CHD1	chr19:42926653-42928296	IMR90	lung:	n/a	n/a
25	CREB1	chr19:42924229-42924587	A549	lung:	n/a	n/a
26	CTCF	chr19:42924300-42924450	BE2_C	brain:	n/a	n/a
27	CTCF	chr19:42924186-42924564	GM12878	blood:	n/a	n/a
28	CTCF	chr19:42926900-42927050	GM12873	blood:	n/a	n/a
29	CTCF	chr19:42924193-42924571	GM19238	blood:	n/a	n/a
30	CTCF	chr19:42924240-42924390	HRE	kidney:	n/a	n/a
31	CTCF	chr19:42924300-42924450	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr19:42924137-42924603	GM12878	blood:	n/a	n/a
33	CTCF	chr19:42924017-42924585	HepG2	liver:	n/a	n/a
34	CTCF	chr19:42924260-42924410	GM12874	blood:	n/a	n/a
35	CTCF	chr19:42924059-42924659	K562	blood:	n/a	n/a
36	CTCF	chr19:42924667-42924784	GM19238	blood:	n/a	n/a
37	CTCF	chr19:42923940-42924090	GM12875	blood:	n/a	n/a
38	CTCF	chr19:42924181-42924511	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr19:42924193-42924513	ECC-1	luminal epithelium:	n/a	n/a
40	CTCF	chr19:42924214-42924512	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:42924224-42924477	GM13976	blood:	n/a	n/a
42	CTCF	chr19:42924217-42924500	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr19:42924300-42924450	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr19:42924300-42924450	RPTEC	kidney:	n/a	n/a
45	CTCF	chr19:42927020-42927170	GM12864	blood:	n/a	n/a
46	CTCF	chr19:42924300-42924450	HMEC	breast:	n/a	n/a
47	CTCF	chr19:42924122-42924587	K562	blood:	n/a	n/a
48	CTCF	chr19:42924360-42924510	HCM	heart:	n/a	n/a
49	CTCF	chr19:42927060-42927210	GM12869	blood:	n/a	n/a
50	CTCF	chr19:42924250-42924457	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42905670..42907944-chr19:42921112..42922967,2	K562	blood:
2	chr19:42905458..42907156-chr19:42917466..42920003,2	K562	blood:
3	chr19:42923683..42924698-chr19:42937367..42938479,4	MCF-7	breast:
4	chr19:42900219..42901127-chr19:42923966..42924540,2	MCF-7	breast:
5	chr19:42747404..42749057-chr19:42923034..42925507,2	K562	blood:
6	chr19:42593805..42596172-chr19:42919024..42921548,2	K562	blood:
7	chr19:42925339..42926995-chr19:42928878..42931861,2	K562	blood:
8	chr19:42787574..42789864-chr19:42923760..42926145,2	MCF-7	breast:
9	chr19:42921780..42924678-chr19:42930501..42932558,2	K562	blood:
10	chr19:42923927..42924838-chr19:42937872..42938431,4	MCF-7	breast:
11	chr19:42682574..42684413-chr19:42921728..42924640,2	K562	blood:
12	chr19:42923833..42924814-chr19:42944126..42944646,2	K562	blood:
13	chr19:42637501..42639898-chr19:42924232..42925782,2	K562	blood:
14	chr19:42924851..42926943-chr19:42928310..42931390,3	MCF-7	breast:
15	chr19:42923954..42924758-chr2:222313250..222313936,2	MCF-7	breast:
16	chr19:42903448..42905839-chr19:42923535..42926055,2	MCF-7	breast:
17	chr19:42921780..42924507-chr19:42929179..42932042,4	K562	blood:
18	chr19:42923925..42924921-chr19:42937449..42938520,3	K562	blood:

No data

Variant related genes	Relation type
LIPE-AS1	TF binding region
LIPE	TF binding region
ENSG00000079435	chromatin interactions
ENSG00000266226	chromatin interactions
ENSG00000213904	chromatin interactions
ENSG00000079432	chromatin interactions
ENSG00000254887	chromatin interactions
ENSG00000268605	chromatin interactions

Extended variants
information (count: 267 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:267 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34833378	chr19:42919405-42919406	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs369800029	chr19:42919414-42919415	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs376373766	chr19:42919464-42919465	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536106449	chr19:42919468-42919469	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554805053	chr19:42919506-42919507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs35222969	chr19:42919558-42919559	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192838544	chr19:42919559-42919560	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186254929	chr19:42919584-42919585	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369546084	chr19:42919613-42919614	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs189169416	chr19:42919700-42919701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34381435	chr19:42919734-42919735	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs34959766	chr19:42919739-42919740	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181975789	chr19:42919759-42919760	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572702773	chr19:42919806-42919807	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145758482	chr19:42919818-42919819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561161831	chr19:42919821-42919822	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34874006	chr19:42919822-42919823	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs141906382	chr19:42919840-42919841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565366830	chr19:42919844-42919845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186201041	chr19:42919846-42919847	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190757200	chr19:42919893-42919894	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34923099	chr19:42919895-42919896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs536557749	chr19:42919918-42919919	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138726583	chr19:42919956-42919957	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs74822769	chr19:42919961-42919962	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs78283693	chr19:42919964-42919965	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548296511	chr19:42919980-42919981	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs569885117	chr19:42920017-42920018	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs537220044	chr19:42920018-42920019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35662484	chr19:42920059-42920060	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115918898	chr19:42920109-42920110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs78880975	chr19:42920126-42920127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566318846	chr19:42920129-42920130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538821640	chr19:42920135-42920136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71336814	chr19:42920206-42920207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375244074	chr19:42920223-42920224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10407842	chr19:42920224-42920225	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs552944645	chr19:42920233-42920234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182960953	chr19:42920250-42920251	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542936002	chr19:42920321-42920322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561225542	chr19:42920364-42920365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559253776	chr19:42920366-42920367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528503452	chr19:42920415-42920416	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186543819	chr19:42920417-42920418	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571166037	chr19:42920445-42920446	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565285801	chr19:42920452-42920453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs60554754	chr19:42920473-42920474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142029695	chr19:42920496-42920497	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35241185	chr19:42920555-42920556	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs541123719	chr19:42920626-42920627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Multiple myeloma	17550852	CNVD

Chromatin state (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42906200-42926200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:42906400-42924400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:42906400-42926400	Weak transcription	Colonic Mucosa	Colon
4	chr19:42906600-42926400	Weak transcription	Fetal Lung	lung
5	chr19:42906800-42923200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr19:42906800-42924000	Weak transcription	A549	lung
7	chr19:42906800-42924400	Weak transcription	Osteobl	bone
8	chr19:42906800-42925200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr19:42907000-42924200	Strong transcription	Fetal Stomach	stomach
10	chr19:42907000-42924400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:42907400-42926600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:42909000-42925800	Weak transcription	Dnd41	blood
13	chr19:42910400-42924200	Weak transcription	GM12878-XiMat	blood
14	chr19:42911000-42924000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr19:42911000-42924400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr19:42911200-42923800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr19:42911600-42923600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr19:42912200-42925000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:42912600-42924000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42912600-42924200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr19:42912600-42925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr19:42912800-42926200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr19:42913800-42925800	Weak transcription	NHDF-Ad	bronchial
24	chr19:42914000-42923600	Weak transcription	Lung	lung
25	chr19:42914000-42924200	Weak transcription	Pancreas	Pancrea
26	chr19:42914000-42924400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:42914000-42926400	Weak transcription	Ovary	ovary
28	chr19:42914200-42924400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr19:42914400-42926000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr19:42915000-42925600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr19:42915200-42924400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:42915200-42925400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:42915200-42925800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:42915400-42924000	Weak transcription	Brain Germinal Matrix	brain
35	chr19:42915400-42924200	Weak transcription	NHLF	lung
36	chr19:42915800-42920600	Weak transcription	Fetal Brain Female	brain
37	chr19:42917000-42920600	Strong transcription	Fetal Intestine Small	intestine
38	chr19:42917000-42923200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:42917000-42924000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:42917000-42926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:42917200-42922600	Weak transcription	Esophagus	oesophagus
42	chr19:42917200-42923000	Weak transcription	Left Ventricle	heart
43	chr19:42917200-42923400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:42917200-42923400	Weak transcription	Right Ventricle	heart
45	chr19:42917200-42923600	Weak transcription	Gastric	stomach
46	chr19:42917200-42923600	Weak transcription	Right Atrium	heart
47	chr19:42917200-42924200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr19:42917200-42924400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:42917400-42923600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:42917400-42924200	Weak transcription	Brain Angular Gyrus	brain

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