Variant report

Variant	nsv978815
Chromosome Location	chr19:40443651-40449610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:40447904-40447932	K562	blood:	n/a	n/a
2	ATF2	chr19:40447416-40448147	GM12878	blood:	n/a	n/a
3	BCL11A	chr19:40447638-40448040	GM12878	blood:	n/a	chr19:40447863-40447872
4	BCL3	chr19:40449550-40450626	A549	lung:	n/a	n/a
5	BCLAF1	chr19:40447419-40448094	GM12878	blood:	n/a	chr19:40447863-40447872
6	CBX3	chr19:40446407-40446710	K562	blood:	n/a	n/a
7	CEBPB	chr19:40443562-40444602	A549	lung:	n/a	n/a
8	CEBPB	chr19:40443673-40444335	A549	lung:	n/a	n/a
9	CEBPB	chr19:40443774-40444069	K562	blood:	n/a	n/a
10	CEBPB	chr19:40443720-40444220	A549	lung:	n/a	n/a
11	CEBPD	chr19:40447990-40448229	K562	blood:	n/a	n/a
12	CTCF	chr19:40449395-40449411	GM13977	blood:	n/a	n/a
13	CTCF	chr19:40447180-40447330	GM06990	blood:	n/a	n/a
14	CTCF	chr19:40447140-40447290	GM12873	blood:	n/a	n/a
15	CUX1	chr19:40447337-40447943	GM12878	blood:	n/a	n/a
16	EBF1	chr19:40447683-40448004	GM12878	blood:	n/a	n/a
17	EBF1	chr19:40447026-40447285	GM12878	blood:	n/a	n/a
18	EBF1	chr19:40447575-40447953	GM12878	blood:	n/a	n/a
19	EP300	chr19:40449466-40450643	A549	lung:	n/a	n/a
20	EP300	chr19:40449601-40450629	A549	lung:	n/a	n/a
21	EP300	chr19:40447781-40447819	K562	blood:	n/a	n/a
22	EP300	chr19:40447439-40448028	GM12878	blood:	n/a	chr19:40447552-40447566
23	EP300	chr19:40447506-40448028	GM12878	blood:	n/a	chr19:40447552-40447566
24	FOSL2	chr19:40449592-40450620	A549	lung:	n/a	n/a
25	FOSL2	chr19:40443666-40444524	A549	lung:	n/a	n/a
26	FOXA2	chr19:40443332-40444411	A549	lung:	n/a	n/a
27	FOXM1	chr19:40447435-40448107	GM12878	blood:	n/a	n/a
28	GATA2	chr19:40447796-40448197	HUVEC	blood vessel:	n/a	n/a
29	GATA2	chr19:40447911-40448293	K562	blood:	n/a	n/a
30	HEY1	chr19:40449483-40449682	K562	blood:	n/a	n/a
31	IKZF1	chr19:40447141-40448105	GM12878	blood:	n/a	n/a
32	IRF4	chr19:40447516-40447971	GM12878	blood:	n/a	n/a
33	KAP1	chr19:40447610-40448205	U2OS	brain:	n/a	n/a
34	MAX	chr19:40449549-40451091	A549	lung:	n/a	n/a
35	MAX	chr19:40447545-40447923	NB4	blood:	n/a	n/a
36	MAX	chr19:40449602-40450663	A549	lung:	n/a	n/a
37	MTA3	chr19:40447246-40448130	GM12878	blood:	n/a	n/a
38	MTA3	chr19:40447384-40448061	GM12878	blood:	n/a	n/a
39	MYC	chr19:40447687-40447900	NB4	blood:	n/a	n/a
40	NFATC1	chr19:40447423-40448065	GM12878	blood:	n/a	n/a
41	NFIC	chr19:40447382-40448149	GM12878	blood:	n/a	n/a
42	NFIC	chr19:40447364-40448269	GM12878	blood:	n/a	n/a
43	NFYB	chr19:40447737-40448087	GM12878	blood:	n/a	n/a
44	NR2F2	chr19:40447962-40448169	K562	blood:	n/a	n/a
45	PAX5	chr19:40447477-40447758	GM12878	blood:	n/a	n/a
46	PAX5	chr19:40447494-40447773	GM12878	blood:	n/a	n/a
47	PAX5	chr19:40447519-40447693	GM12878	blood:	n/a	n/a
48	PML	chr19:40447430-40448153	GM12878	blood:	n/a	n/a
49	POLR2A	chr19:40449259-40449652	MCF-7	breast:	n/a	n/a
50	POLR2A	chr19:40447537-40448082	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:40439263..40441192-chr19:40446766..40448427,2	K562	blood:
2	chr19:40446423..40448525-chr19:40595370..40597652,2	MCF-7	breast:
3	chr19:40440432..40442359-chr19:40443718..40445248,2	K562	blood:
4	chr19:40445775..40448041-chr19:40449337..40452328,2	MCF-7	breast:
5	chr12:53840252..53841772-chr19:40447090..40448611,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FCGBP-1	chr19:40449146-40449587	NONHSAT066327
2	lnc-FCGBP-1	chr19:40448563-40449473	NONHSAT066326
3	lnc-FCGBP-1	chr19:40449570-40449634	NONHSAT066326

No data

Variant related genes	Relation type
ENSG00000187534	TF binding region
FCGBP	TF binding region
ENSG00000269749	chromatin interactions
ENSG00000197782	chromatin interactions
ENSG00000269296	chromatin interactions
ENSG00000090920	chromatin interactions
ENSG00000187534	chromatin interactions

Extended variants
information (count: 197 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190367509	chr19:40443714-40443715	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs200329087	chr19:40443738-40443739	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs12984178	chr19:40443757-40443758	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs12982119	chr19:40443760-40443761	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs12973382	chr19:40443783-40443784	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs560493483	chr19:40443788-40443789	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182290392	chr19:40443791-40443792	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111574745	chr19:40443799-40443800	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs185478698	chr19:40443831-40443832	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs12052169	chr19:40443858-40443859	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs189887359	chr19:40443877-40443878	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113710652	chr19:40443890-40443891	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558464204	chr19:40443946-40443947	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs183869456	chr19:40443988-40443989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs150913297	chr19:40444035-40444036	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs553773721	chr19:40444042-40444043	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572317987	chr19:40444115-40444116	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs35231150	chr19:40444120-40444121	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs543144891	chr19:40444124-40444125	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554759508	chr19:40444201-40444202	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs549337848	chr19:40444204-40444205	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs140125506	chr19:40444205-40444206	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs8109323	chr19:40444282-40444283	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs35002507	chr19:40444284-40444285	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs188864450	chr19:40444318-40444319	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs557858846	chr19:40444336-40444337	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs113245922	chr19:40444351-40444352	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs114227363	chr19:40444378-40444379	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs559333633	chr19:40444392-40444393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs145602085	chr19:40444393-40444394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs73052630	chr19:40444503-40444504	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550044242	chr19:40444506-40444507	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530587790	chr19:40444526-40444527	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554102507	chr19:40444558-40444559	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35053359	chr19:40444570-40444571	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs115759358	chr19:40444571-40444572	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570285677	chr19:40444587-40444588	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs114028387	chr19:40444624-40444625	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs550547466	chr19:40444625-40444626	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552834749	chr19:40444677-40444678	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs193041387	chr19:40444711-40444712	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs10418448	chr19:40444718-40444719	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs183574977	chr19:40444782-40444783	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs186921013	chr19:40444810-40444811	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs533620941	chr19:40444857-40444858	Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs368326625	chr19:40444893-40444894	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs539156470	chr19:40444910-40444911	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10423510	chr19:40444946-40444947	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115072134	chr19:40444953-40444954	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs191864493	chr19:40445046-40445047	Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40438600-40443800	Enhancers	Primary T cells fromperipheralblood	blood
2	chr19:40439800-40443800	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr19:40439800-40443800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:40439800-40443800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:40439800-40444600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40440000-40443800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr19:40440000-40443800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:40440000-40444000	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr19:40440000-40444000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:40440000-40444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:40440200-40443800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr19:40440400-40443800	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:40440600-40443800	Enhancers	Primary T cells from cord blood	blood
15	chr19:40440600-40443800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:40440600-40444000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
17	chr19:40440800-40443800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:40440800-40444000	Enhancers	Fetal Intestine Small	intestine
19	chr19:40440800-40444600	Enhancers	Fetal Intestine Large	intestine
20	chr19:40440800-40447000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:40441000-40443800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr19:40441000-40443800	Enhancers	GM12878-XiMat	blood
23	chr19:40441200-40449000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:40441800-40444200	Enhancers	Stomach Mucosa	stomach
25	chr19:40441800-40447200	Weak transcription	Esophagus	oesophagus
26	chr19:40442000-40446400	Weak transcription	Brain Hippocampus Middle	brain
27	chr19:40442000-40450400	Weak transcription	Brain Substantia Nigra	brain
28	chr19:40442200-40444400	Enhancers	HepG2	liver
29	chr19:40442200-40447000	Weak transcription	Gastric	stomach
30	chr19:40442400-40449000	Weak transcription	Pancreas	Pancrea
31	chr19:40442400-40450400	Weak transcription	Lung	lung
32	chr19:40442600-40444000	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr19:40442600-40447000	Weak transcription	Small Intestine	intestine
34	chr19:40443000-40446800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr19:40443000-40447000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:40443200-40444000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr19:40443400-40443800	Enhancers	A549	lung
38	chr19:40443400-40444400	Enhancers	Primary B cells from cord blood	blood
39	chr19:40443600-40444200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
40	chr19:40443600-40446800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr19:40443600-40447000	Weak transcription	Colonic Mucosa	Colon
42	chr19:40443600-40447000	Weak transcription	Fetal Muscle Leg	muscle
43	chr19:40443600-40447000	Weak transcription	Placenta	Placenta
44	chr19:40443600-40447000	Weak transcription	Fetal Thymus	thymus
45	chr19:40443800-40444000	Flanking Active TSS	A549	lung
46	chr19:40443800-40445400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr19:40443800-40445600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr19:40443800-40445600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr19:40443800-40445800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:40443800-40446000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links