Variant report

Variant	nsv911423
Chromosome Location	chr19:21783995-21858994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:425)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:425 , 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	chr19:21800652-21800945	K562	blood:	n/a	n/a
2	ARID3A	chr19:21809787-21809898	K562	blood:	n/a	n/a
3	ARID3A	chr19:21807879-21808804	K562	blood:	n/a	n/a
4	ARID3A	chr19:21786732-21786984	K562	blood:	n/a	n/a
5	ARID3A	chr19:21794774-21795815	K562	blood:	n/a	n/a
6	ARID3A	chr19:21784781-21786180	K562	blood:	n/a	n/a
7	ATF1	chr19:21807973-21808374	K562	blood:	n/a	n/a
8	ATF1	chr19:21787263-21787316	K562	blood:	n/a	n/a
9	ATF1	chr19:21787782-21788023	K562	blood:	n/a	n/a
10	ATF1	chr19:21808631-21809182	K562	blood:	n/a	n/a
11	ATF1	chr19:21794941-21795310	K562	blood:	n/a	n/a
12	ATF1	chr19:21786629-21787040	K562	blood:	n/a	n/a
13	ATF1	chr19:21809813-21810319	K562	blood:	n/a	n/a
14	ATF1	chr19:21785628-21786402	K562	blood:	n/a	n/a
15	ATF3	chr19:21785653-21786139	K562	blood:	n/a	n/a
16	ATF3	chr19:21807946-21808289	K562	blood:	n/a	n/a
17	BATF	chr19:21787072-21787360	GM12878	blood:	n/a	n/a
18	BHLHE40	chr19:21794738-21795143	K562	blood:	n/a	n/a
19	BHLHE40	chr19:21809786-21810010	K562	blood:	n/a	n/a
20	BHLHE40	chr19:21787777-21787977	K562	blood:	n/a	n/a
21	BHLHE40	chr19:21810217-21810505	K562	blood:	n/a	n/a
22	BHLHE40	chr19:21785683-21787434	K562	blood:	n/a	n/a
23	BHLHE40	chr19:21787118-21787259	GM12878	blood:	n/a	n/a
24	BHLHE40	chr19:21785096-21785106	K562	blood:	n/a	n/a
25	BRCA1	chr19:21787066-21787726	H1-hESC	embryonic stem cell:	n/a	n/a
26	CBX3	chr19:21785499-21786084	K562	blood:	n/a	n/a
27	CBX3	chr19:21785429-21785900	K562	blood:	n/a	n/a
28	CBX3	chr19:21817016-21817275	K562	blood:	n/a	n/a
29	CBX3	chr19:21816992-21817341	K562	blood:	n/a	n/a
30	CCNT2	chr19:21800593-21800799	K562	blood:	n/a	n/a
31	CCNT2	chr19:21785630-21786222	K562	blood:	n/a	n/a
32	CCNT2	chr19:21795029-21795236	K562	blood:	n/a	n/a
33	CCNT2	chr19:21808531-21808731	K562	blood:	n/a	n/a
34	CEBPB	chr19:21834339-21834650	IMR90	lung:	n/a	chr19:21834477-21834488
35	CEBPB	chr19:21786777-21786985	K562	blood:	n/a	n/a
36	CEBPB	chr19:21834396-21834642	H1-hESC	embryonic stem cell:	n/a	chr19:21834477-21834488
37	CEBPB	chr19:21808025-21808377	K562	blood:	n/a	chr19:21808185-21808196
38	CEBPB	chr19:21808012-21808368	H1-hESC	embryonic stem cell:	n/a	chr19:21808185-21808196
39	CEBPB	chr19:21800745-21800806	K562	blood:	n/a	n/a
40	CEBPB	chr19:21834398-21834609	A549	lung:	n/a	chr19:21834477-21834488
41	CEBPB	chr19:21791377-21791633	MCF-7	breast:	n/a	n/a
42	CEBPB	chr19:21834365-21834625	HepG2	liver:	n/a	chr19:21834477-21834488
43	CEBPB	chr19:21808920-21809120	K562	blood:	n/a	n/a
44	CEBPB	chr19:21808083-21808339	Hela-S3	cervix:	n/a	chr19:21808185-21808196
45	CEBPB	chr19:21785329-21786199	K562	blood:	n/a	n/a
46	CEBPB	chr19:21786689-21786720	H1-hESC	embryonic stem cell:	n/a	n/a
47	CEBPB	chr19:21787278-21787791	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr19:21834328-21834655	K562	blood:	n/a	chr19:21834477-21834488
49	CEBPB	chr19:21808029-21808360	HepG2	liver:	n/a	chr19:21808185-21808196
50	CEBPB	chr19:21808077-21808348	A549	lung:	n/a	chr19:21808185-21808196

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21856821-21856871	BE2_C	brain:	n/a
2	chr19:21856821-21856871	NHBE	bronchial:	n/a
3	chr19:21856821-21856871	GM12891	blood:	n/a
4	chr19:21856821-21856871	SK-N-SH	brain:	n/a
5	chr19:21856821-21856871	HRE	kidney:	n/a
6	chr19:21856821-21856871	Caco-2	colon:	n/a
7	chr19:21856821-21856871	IMR90	lung:	fetal
8	chr19:21856821-21856871	AG10803	skin:	n/a
9	chr19:21856821-21856871	AG09319	gingival:	n/a
10	chr19:21856821-21856871	HRCEpiC	kidney:	n/a
11	chr19:21856821-21856871	LNCaP	prostate:	n/a
12	chr19:21856821-21856871	HCT-116	colon:	n/a
13	chr19:21856821-21856871	NH-A	brain:	n/a
14	chr19:21856821-21856871	ProgFib	skin:	n/a
15	chr19:21856821-21856871	AG04450	lung:	fetal
16	chr19:21856821-21856871	SK-N-SH_RA	brain:	n/a
17	chr19:21856821-21856871	GM12878	blood:	n/a
18	chr19:21856821-21856871	MCF-7	breast:	n/a
19	chr19:21856821-21856871	T-47D	breast:	n/a
20	chr19:21856821-21856871	HPAEpiC	pulmonary alveolar:	n/a
21	chr19:21856821-21856871	HEEpiC	esophagus:	n/a
22	chr19:21856821-21856871	AG09309	skin:	n/a
23	chr19:21856821-21856871	HCPEpiC	choroid plexus:	n/a
24	chr19:21856821-21856871	HCM	heart:	n/a
25	chr19:21856821-21856871	NHDF-neo	bronchial:	n/a
26	chr19:21856821-21856871	CMK	blood:	n/a
27	chr19:21856821-21856871	ECC-1	luminal epithelium:	n/a
28	chr19:21856821-21856871	SK-N-MC	brain:	n/a
29	chr19:21856821-21856871	GM12892	blood:	n/a
30	chr19:21856821-21856871	Jurkat	blood:	n/a
31	chr19:21856821-21856871	PrEC	prostate:	n/a
32	chr19:21856821-21856871	SKMC	muscle:	n/a
33	chr19:21856821-21856871	HEK293	kidney:	embryo
34	chr19:21856821-21856871	Hepatocyte	liver:	n/a
35	chr19:21856821-21856871	GM06990	blood:	n/a
36	chr19:21856821-21856871	A549	lung:	n/a
37	chr19:21856821-21856871	HCF	heart:	n/a
38	chr19:21856821-21856871	HNPCEpiC	eye:	n/a
39	chr19:21856821-21856871	HIPEpiC	eye:	n/a
40	chr19:21856821-21856871	HMEC	breast:	n/a
41	chr19:21856821-21856871	H1-hESC	embryonic stem cell:	embryo
42	chr19:21856821-21856871	HAEpiC	amniotic membrane:	n/a
43	chr19:21856821-21856871	Hela-S3	cervix:	n/a
44	chr19:21856821-21856871	HUVEC	blood vessel:	n/a
45	chr19:21856821-21856871	RPTEC	kidney:	n/a
46	chr19:21856821-21856871	GM19239	blood:	n/a
47	chr19:21856821-21856871	NB4	blood:	n/a
48	chr19:21856821-21856871	PANC-1	pancreas:	n/a
49	chr19:21856821-21856871	U87	brain:	n/a
50	chr19:21856821-21856871	BJ	skin:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:21788851..21790670-chr19:21793445..21795166,2	K562	blood:
2	chr19:21776789..21778695-chr19:21784881..21786729,2	K562	blood:
3	chr19:21788851..21790670-chr19:21793445..21795166,2	K562	blood:
4	chr19:21784507..21786165-chr19:21795628..21798618,2	K562	blood:
5	chr19:21784507..21786165-chr19:21795628..21798618,2	K562	blood:
6	chr19:21780063..21781970-chr19:21783251..21784988,3	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF429-4	chr19:21812254-21812720	NONHSAT063734
2	lnc-ZNF429-4	chr19:21810680-21810782	NONHSAT063734
3	lnc-ZNF429-2	chr19:21797286-21797405	XLOC_013007
4	lnc-ZNF429-4	chr19:21819782-21820141	NONHSAT063734

No data

Variant related genes	Relation type
ENSG00000268278	TF binding region
ENSG00000271182	TF binding region
ENSG00000268278	CpG island
ENSG00000271182	CpG island
ENSG00000268240	chromatin interactions

Extended variants
information (count: 3705 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:3705 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs950504	chr19:21783995-21783996	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148213826	chr19:21784002-21784003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540534154	chr19:21784050-21784051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559291207	chr19:21784081-21784082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141160961	chr19:21784093-21784094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150709392	chr19:21784094-21784095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs73552497	chr19:21784106-21784107	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs530647014	chr19:21784156-21784157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543199891	chr19:21784163-21784164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139414351	chr19:21784191-21784192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs7257168	chr19:21784207-21784208	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534877541	chr19:21784213-21784214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546960414	chr19:21784270-21784271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571592328	chr19:21784271-21784272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576753673	chr19:21784318-21784319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373649771	chr19:21784376-21784377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557339276	chr19:21784377-21784378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11665814	chr19:21784386-21784387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs55909276	chr19:21784390-21784391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373269372	chr19:21784392-21784393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11085471	chr19:21784393-21784394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12972543	chr19:21784398-21784399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11085472	chr19:21784400-21784401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11085473	chr19:21784403-21784404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577350695	chr19:21784409-21784410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11085475	chr19:21784412-21784413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575620818	chr19:21784421-21784422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543190464	chr19:21784467-21784468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372583755	chr19:21784469-21784470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554709344	chr19:21784478-21784479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192490432	chr19:21784486-21784487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540503425	chr19:21784487-21784488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559032902	chr19:21784488-21784489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577555740	chr19:21784504-21784505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564859370	chr19:21784514-21784515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs11665855	chr19:21784516-21784517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs563296362	chr19:21784527-21784528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34835488	chr19:21784572-21784573	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs546703860	chr19:21784573-21784574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563275261	chr19:21784590-21784591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561045233	chr19:21784592-21784593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144807213	chr19:21784601-21784602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs184757013	chr19:21784607-21784608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568535323	chr19:21784654-21784655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571413298	chr19:21784674-21784675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189482655	chr19:21784682-21784683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550673888	chr19:21784708-21784709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532183754	chr19:21784716-21784717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372066704	chr19:21784745-21784746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536332187	chr19:21784754-21784755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD

Chromatin state (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21770000-21786600	Weak transcription	Primary T cells from cord blood	blood
2	chr19:21770200-21786600	Weak transcription	Right Ventricle	heart
3	chr19:21771000-21786200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr19:21771200-21786200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:21771200-21786200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:21771400-21785000	Weak transcription	Fetal Intestine Small	intestine
7	chr19:21778200-21785800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:21780600-21784400	Weak transcription	Pancreas	Pancrea
9	chr19:21781400-21785400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr19:21781800-21784800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:21782000-21784200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr19:21782000-21784800	Enhancers	Dnd41	blood
13	chr19:21782000-21785000	Enhancers	K562	blood
14	chr19:21782000-21786200	Enhancers	Primary hematopoietic stem cells	blood
15	chr19:21782400-21784400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:21782600-21784000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr19:21782600-21784200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr19:21782600-21786200	Weak transcription	Spleen	Spleen
19	chr19:21782800-21784600	Weak transcription	Fetal Intestine Large	intestine
20	chr19:21783400-21784000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr19:21783400-21784000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:21783400-21784200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr19:21783600-21784000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:21783600-21784200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:21783600-21786200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:21783600-21787000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr19:21783800-21786000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr19:21784000-21785400	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:21784000-21786000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:21784000-21786200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:21784000-21786400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr19:21784200-21784400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr19:21784200-21785600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:21784200-21786200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:21784400-21784600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:21784400-21785400	Enhancers	Pancreas	Pancrea
37	chr19:21784400-21786000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr19:21784600-21785000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:21784600-21787200	Enhancers	Fetal Intestine Large	intestine
40	chr19:21784800-21785400	Flanking Active TSS	Dnd41	blood
41	chr19:21784800-21788400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:21785000-21785200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:21785000-21785400	Enhancers	Fetal Intestine Small	intestine
44	chr19:21785000-21785400	Flanking Active TSS	K562	blood
45	chr19:21785000-21786600	Enhancers	Fetal Kidney	kidney
46	chr19:21785000-21787000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:21785000-21787000	Enhancers	Ovary	ovary
48	chr19:21785200-21786200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:21785400-21785600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr19:21785400-21785800	Active TSS	Fetal Intestine Small	intestine

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