Variant report

Variant	nsv963135
Chromosome Location	chr19:21800743-21892052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:427)
Chromatin interactive
region (count:1)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 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	chr19:21877343-21877696	K562	blood:	n/a	n/a
2	ARID3A	chr19:21807879-21808804	K562	blood:	n/a	n/a
3	ARID3A	chr19:21800652-21800945	K562	blood:	n/a	n/a
4	ARID3A	chr19:21809787-21809898	K562	blood:	n/a	n/a
5	ATF1	chr19:21808631-21809182	K562	blood:	n/a	n/a
6	ATF1	chr19:21807973-21808374	K562	blood:	n/a	n/a
7	ATF1	chr19:21809813-21810319	K562	blood:	n/a	n/a
8	ATF3	chr19:21877332-21877671	K562	blood:	n/a	n/a
9	ATF3	chr19:21807946-21808289	K562	blood:	n/a	n/a
10	BCL11A	chr19:21887177-21887475	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr19:21887236-21887405	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr19:21888259-21888433	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr19:21809786-21810010	K562	blood:	n/a	n/a
14	BHLHE40	chr19:21810217-21810505	K562	blood:	n/a	n/a
15	BHLHE40	chr19:21880548-21880702	K562	blood:	n/a	n/a
16	BHLHE40	chr19:21877350-21877598	K562	blood:	n/a	n/a
17	CBX3	chr19:21816992-21817341	K562	blood:	n/a	n/a
18	CBX3	chr19:21817016-21817275	K562	blood:	n/a	n/a
19	CBX3	chr19:21880986-21881326	K562	blood:	n/a	n/a
20	CCNT2	chr19:21800593-21800799	K562	blood:	n/a	n/a
21	CCNT2	chr19:21808531-21808731	K562	blood:	n/a	n/a
22	CEBPB	chr19:21808025-21808377	K562	blood:	n/a	chr19:21808185-21808196
23	CEBPB	chr19:21808012-21808368	H1-hESC	embryonic stem cell:	n/a	chr19:21808185-21808196
24	CEBPB	chr19:21808083-21808339	Hela-S3	cervix:	n/a	chr19:21808185-21808196
25	CEBPB	chr19:21834328-21834655	K562	blood:	n/a	chr19:21834477-21834488
26	CEBPB	chr19:21807428-21807620	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr19:21887146-21887452	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr19:21870416-21870538	HepG2	liver:	n/a	chr19:21870513-21870524
29	CEBPB	chr19:21808077-21808348	A549	lung:	n/a	chr19:21808185-21808196
30	CEBPB	chr19:21882049-21882308	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr19:21834365-21834625	HepG2	liver:	n/a	chr19:21834477-21834488
32	CEBPB	chr19:21825311-21825337	HepG2	liver:	n/a	chr19:21825317-21825328
33	CEBPB	chr19:21834339-21834650	IMR90	lung:	n/a	chr19:21834477-21834488
34	CEBPB	chr19:21825264-21825366	K562	blood:	n/a	chr19:21825317-21825328
35	CEBPB	chr19:21863599-21863771	K562	blood:	n/a	n/a
36	CEBPB	chr19:21808029-21808360	HepG2	liver:	n/a	chr19:21808185-21808196
37	CEBPB	chr19:21808920-21809120	K562	blood:	n/a	n/a
38	CEBPB	chr19:21807974-21808396	K562	blood:	n/a	chr19:21808185-21808196
39	CEBPB	chr19:21877561-21877636	K562	blood:	n/a	n/a
40	CEBPB	chr19:21870427-21870627	A549	lung:	n/a	chr19:21870513-21870524
41	CEBPB	chr19:21834398-21834609	A549	lung:	n/a	chr19:21834477-21834488
42	CEBPB	chr19:21834396-21834642	H1-hESC	embryonic stem cell:	n/a	chr19:21834477-21834488
43	CEBPB	chr19:21808026-21808353	IMR90	lung:	n/a	chr19:21808185-21808196
44	CEBPB	chr19:21807893-21808431	K562	blood:	n/a	chr19:21808185-21808196
45	CEBPB	chr19:21800745-21800806	K562	blood:	n/a	n/a
46	CEBPD	chr19:21808083-21808466	K562	blood:	n/a	n/a
47	CEBPD	chr19:21800539-21800957	K562	blood:	n/a	n/a
48	CHD2	chr19:21887168-21887585	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr19:21881714-21881753	GM13977	blood:	n/a	n/a
50	CTCF	chr19:21881120-21881315	LNCaP	prostate:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21860821-21860871	ProgFib	skin:	n/a
2	chr19:21861136-21861186	GM12892	blood:	n/a
3	chr19:21856821-21856871	AG04449	skin:	fetal
4	chr19:21860916-21860966	HCM	heart:	n/a
5	chr19:21860821-21860871	HRPEpiC	eye:	n/a
6	chr19:21860821-21860871	Caco-2	colon:	n/a
7	chr19:21863715-21863765	GM12891	blood:	n/a
8	chr19:21860753-21860803	U87	brain:	n/a
9	chr19:21860793-21860843	NB4	blood:	n/a
10	chr19:21863715-21863765	Hela-S3	cervix:	n/a
11	chr19:21856821-21856871	SAEC	small airway:	n/a
12	chr19:21861136-21861186	K562	blood:	n/a
13	chr19:21856821-21856871	K562	blood:	n/a
14	chr19:21856821-21856871	Jurkat	blood:	n/a
15	chr19:21860821-21860871	HMEC	breast:	n/a
16	chr19:21860753-21860803	RPTEC	kidney:	n/a
17	chr19:21856821-21856871	AG09319	gingival:	n/a
18	chr19:21861136-21861186	Jurkat	blood:	n/a
19	chr19:21863715-21863765	HIPEpiC	eye:	n/a
20	chr19:21863715-21863765	NB4	blood:	n/a
21	chr19:21860916-21860966	PFSK-1	brain:	n/a
22	chr19:21860753-21860803	IMR90	lung:	fetal
23	chr19:21856821-21856871	NHDF-neo	bronchial:	n/a
24	chr19:21860916-21860966	MCF-7	breast:	n/a
25	chr19:21860916-21860966	AoSMC	blood vessel:	n/a
26	chr19:21860916-21860966	K562	blood:	n/a
27	chr19:21860916-21860966	ProgFib	skin:	n/a
28	chr19:21860821-21860871	GM06990	blood:	n/a
29	chr19:21860821-21860871	RPTEC	kidney:	n/a
30	chr19:21856821-21856871	ovcar-3	ovarian:	n/a
31	chr19:21860821-21860871	HEEpiC	esophagus:	n/a
32	chr19:21861136-21861186	AG04450	lung:	fetal
33	chr19:21860821-21860871	SK-N-SH	brain:	n/a
34	chr19:21861136-21861186	U87	brain:	n/a
35	chr19:21863715-21863765	H1-hESC	embryonic stem cell:	embryo
36	chr19:21856821-21856871	AG04450	lung:	fetal
37	chr19:21856821-21856871	A549	lung:	n/a
38	chr19:21861136-21861186	AG09319	gingival:	n/a
39	chr19:21860821-21860871	HL-60	blood:	n/a
40	chr19:21863715-21863765	HAEpiC	amniotic membrane:	n/a
41	chr19:21856821-21856871	HCM	heart:	n/a
42	chr19:21860916-21860966	GM12878	blood:	n/a
43	chr19:21861136-21861186	SK-N-MC	brain:	n/a
44	chr19:21856821-21856871	Hela-S3	cervix:	n/a
45	chr19:21860753-21860803	AG04449	skin:	fetal
46	chr19:21863715-21863765	K562	blood:	n/a
47	chr19:21860753-21860803	MCF-7	breast:	n/a
48	chr19:21856821-21856871	HRE	kidney:	n/a
49	chr19:21860916-21860966	HNPCEpiC	eye:	n/a
50	chr19:21860821-21860871	GM12892	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21689678..21691656-chr19:21877431..21879636,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000268278	TF binding region
ENSG00000268433	TF binding region
ENSG00000271182	TF binding region
ENSG00000266008	TF binding region
ENSG00000268535	TF binding region
ENSG00000268278	CpG island
ENSG00000268433	CpG island
ENSG00000271182	CpG island
ENSG00000266008	CpG island
ENSG00000268535	CpG island

Extended variants
information (count: 3604 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:3604 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190515621	chr19:21800791-21800792	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149358714	chr19:21800795-21800796	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs183088666	chr19:21800802-21800803	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546384808	chr19:21800867-21800868	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7254024	chr19:21800876-21800877	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs368142347	chr19:21800889-21800890	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs544143096	chr19:21800894-21800895	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs562336659	chr19:21800912-21800913	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs386807824	chr19:21800916-21800917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs61461318	chr19:21800917-21800918	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs143150922	chr19:21800938-21800939	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146883143	chr19:21800955-21800956	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs116889177	chr19:21800986-21800987	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs570651202	chr19:21801005-21801006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs59803919	chr19:21801039-21801040	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs550088885	chr19:21801062-21801063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568373249	chr19:21801064-21801065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535802653	chr19:21801070-21801071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372557876	chr19:21801087-21801088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547828285	chr19:21801098-21801099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539244501	chr19:21801105-21801106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566163142	chr19:21801114-21801115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375803312	chr19:21801152-21801153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539952039	chr19:21801253-21801254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187830203	chr19:21801267-21801268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555027393	chr19:21801268-21801269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs140959046	chr19:21801270-21801271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs8108399	chr19:21801281-21801282	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs543203788	chr19:21801338-21801339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555596465	chr19:21801357-21801358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574019873	chr19:21801377-21801378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541388031	chr19:21801408-21801409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534457562	chr19:21801414-21801415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs62108369	chr19:21801450-21801451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs140702733	chr19:21801482-21801483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs192601919	chr19:21801516-21801517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145799167	chr19:21801538-21801539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183765597	chr19:21801560-21801561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187749576	chr19:21801573-21801574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192736701	chr19:21801575-21801576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs111810433	chr19:21801615-21801616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561935103	chr19:21801635-21801636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529239408	chr19:21801636-21801637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184565510	chr19:21801776-21801777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566126320	chr19:21801795-21801796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11673280	chr19:21801812-21801813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs551813546	chr19:21801838-21801839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189935049	chr19:21801839-21801840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537626544	chr19:21801848-21801849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557242024	chr19:21801851-21801852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

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
Cancer	20164920	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21800000-21801400	Enhancers	Dnd41	blood
2	chr19:21800600-21801000	Flanking Active TSS	K562	blood
3	chr19:21800600-21801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:21800800-21801200	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:21801000-21801400	Enhancers	K562	blood
6	chr19:21801200-21802400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr19:21801400-21802800	Weak transcription	K562	blood
8	chr19:21801400-21808000	Weak transcription	Dnd41	blood
9	chr19:21802600-21802800	Enhancers	Primary hematopoietic stem cells	blood
10	chr19:21802800-21803200	Enhancers	K562	blood
11	chr19:21803200-21805600	Weak transcription	K562	blood
12	chr19:21803600-21804000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:21804000-21805000	Enhancers	Fetal Intestine Large	intestine
14	chr19:21804400-21804600	Enhancers	Fetal Intestine Small	intestine
15	chr19:21804600-21804800	Weak transcription	Fetal Intestine Small	intestine
16	chr19:21804600-21805200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr19:21804800-21806200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr19:21805000-21808800	Weak transcription	Fetal Intestine Large	intestine
19	chr19:21805200-21806000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr19:21805400-21806600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:21805600-21806000	Enhancers	K562	blood
22	chr19:21805600-21806800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr19:21805600-21806800	Enhancers	Brain Germinal Matrix	brain
24	chr19:21805800-21807800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr19:21806000-21807000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr19:21806000-21807200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr19:21806000-21807400	Weak transcription	K562	blood
28	chr19:21806200-21817000	Weak transcription	Fetal Intestine Small	intestine
29	chr19:21806400-21806600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr19:21806400-21807200	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr19:21806600-21808000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:21806800-21808000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr19:21807000-21807600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
34	chr19:21807000-21807800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr19:21807000-21808200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr19:21807200-21807600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr19:21807400-21811200	Enhancers	K562	blood
38	chr19:21807600-21808000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr19:21807600-21808200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr19:21807800-21808200	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr19:21808000-21810600	Enhancers	Dnd41	blood
42	chr19:21808800-21809200	Enhancers	Fetal Intestine Large	intestine
43	chr19:21809800-21810400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:21810600-21811200	Flanking Active TSS	Dnd41	blood
45	chr19:21811200-21811600	Enhancers	Dnd41	blood
46	chr19:21811200-21813200	Weak transcription	K562	blood
47	chr19:21811600-21812200	Weak transcription	Dnd41	blood
48	chr19:21811800-21817800	Weak transcription	Pancreas	Pancrea
49	chr19:21812200-21812600	ZNF genes & repeats	Dnd41	blood
50	chr19:21813200-21813600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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