Variant report

Variant	esv2760530
Chromosome Location	chr19:21798427-21885936
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	ARID3A	chr19:21800652-21800945	K562	blood:	n/a	n/a
2	ARID3A	chr19:21809787-21809898	K562	blood:	n/a	n/a
3	ARID3A	chr19:21877343-21877696	K562	blood:	n/a	n/a
4	ARID3A	chr19:21807879-21808804	K562	blood:	n/a	n/a
5	ATF1	chr19:21807973-21808374	K562	blood:	n/a	n/a
6	ATF1	chr19:21808631-21809182	K562	blood:	n/a	n/a
7	ATF1	chr19:21809813-21810319	K562	blood:	n/a	n/a
8	ATF3	chr19:21807946-21808289	K562	blood:	n/a	n/a
9	ATF3	chr19:21877332-21877671	K562	blood:	n/a	n/a
10	BHLHE40	chr19:21809786-21810010	K562	blood:	n/a	n/a
11	BHLHE40	chr19:21877350-21877598	K562	blood:	n/a	n/a
12	BHLHE40	chr19:21880548-21880702	K562	blood:	n/a	n/a
13	BHLHE40	chr19:21810217-21810505	K562	blood:	n/a	n/a
14	CBX3	chr19:21817016-21817275	K562	blood:	n/a	n/a
15	CBX3	chr19:21816992-21817341	K562	blood:	n/a	n/a
16	CBX3	chr19:21880986-21881326	K562	blood:	n/a	n/a
17	CCNT2	chr19:21808531-21808731	K562	blood:	n/a	n/a
18	CCNT2	chr19:21800593-21800799	K562	blood:	n/a	n/a
19	CEBPB	chr19:21808029-21808360	HepG2	liver:	n/a	chr19:21808185-21808196
20	CEBPB	chr19:21808077-21808348	A549	lung:	n/a	chr19:21808185-21808196
21	CEBPB	chr19:21807893-21808431	K562	blood:	n/a	chr19:21808185-21808196
22	CEBPB	chr19:21877561-21877636	K562	blood:	n/a	n/a
23	CEBPB	chr19:21800745-21800806	K562	blood:	n/a	n/a
24	CEBPB	chr19:21825264-21825366	K562	blood:	n/a	chr19:21825317-21825328
25	CEBPB	chr19:21834398-21834609	A549	lung:	n/a	chr19:21834477-21834488
26	CEBPB	chr19:21808083-21808339	Hela-S3	cervix:	n/a	chr19:21808185-21808196
27	CEBPB	chr19:21808012-21808368	H1-hESC	embryonic stem cell:	n/a	chr19:21808185-21808196
28	CEBPB	chr19:21834328-21834655	K562	blood:	n/a	chr19:21834477-21834488
29	CEBPB	chr19:21808025-21808377	K562	blood:	n/a	chr19:21808185-21808196
30	CEBPB	chr19:21808026-21808353	IMR90	lung:	n/a	chr19:21808185-21808196
31	CEBPB	chr19:21834339-21834650	IMR90	lung:	n/a	chr19:21834477-21834488
32	CEBPB	chr19:21863599-21863771	K562	blood:	n/a	n/a
33	CEBPB	chr19:21882049-21882308	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr19:21808920-21809120	K562	blood:	n/a	n/a
35	CEBPB	chr19:21807974-21808396	K562	blood:	n/a	chr19:21808185-21808196
36	CEBPB	chr19:21834365-21834625	HepG2	liver:	n/a	chr19:21834477-21834488
37	CEBPB	chr19:21825311-21825337	HepG2	liver:	n/a	chr19:21825317-21825328
38	CEBPB	chr19:21870427-21870627	A549	lung:	n/a	chr19:21870513-21870524
39	CEBPB	chr19:21807428-21807620	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr19:21834396-21834642	H1-hESC	embryonic stem cell:	n/a	chr19:21834477-21834488
41	CEBPB	chr19:21870416-21870538	HepG2	liver:	n/a	chr19:21870513-21870524
42	CEBPD	chr19:21800539-21800957	K562	blood:	n/a	n/a
43	CEBPD	chr19:21808083-21808466	K562	blood:	n/a	n/a
44	CTCF	chr19:21881140-21881290	HCT-116	colon:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217
45	CTCF	chr19:21881100-21881250	Hela-S3	cervix:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217
46	CTCF	chr19:21881120-21881270	GM12878	blood:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217
47	CTCF	chr19:21881021-21881438	K562	blood:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217
48	CTCF	chr19:21881121-21881344	SK-N-SH_RA	brain:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217
49	CTCF	chr19:21881170-21881300	MCF-7	breast:	n/a	chr19:21881202-21881218 chr19:21881201-21881219 chr19:21881196-21881217
50	CTCF	chr19:21881200-21881350	GM12875	blood:	n/a	chr19:21881202-21881218 chr19:21881201-21881219

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:21860916-21860966	IMR90	lung:	fetal
2	chr19:21860916-21860966	IMR90	lung:	fetal
3	chr19:21860916-21860966	HCT-116	colon:	n/a
4	chr19:21861136-21861186	HRE	kidney:	n/a
5	chr19:21860916-21860966	HPAEpiC	pulmonary alveolar:	n/a
6	chr19:21860916-21860966	HMEC	breast:	n/a
7	chr19:21860821-21860871	PrEC	prostate:	n/a
8	chr19:21860821-21860871	HRCEpiC	kidney:	n/a
9	chr19:21856821-21856871	AG10803	skin:	n/a
10	chr19:21856821-21856871	HepG2	liver:	n/a
11	chr19:21863715-21863765	HRPEpiC	eye:	n/a
12	chr19:21863715-21863765	HPAEpiC	pulmonary alveolar:	n/a
13	chr19:21863715-21863765	HRE	kidney:	n/a
14	chr19:21860793-21860843	AG04450	lung:	fetal
15	chr19:21860793-21860843	A549	lung:	n/a
16	chr19:21861136-21861186	HEK293	kidney:	embryo
17	chr19:21860821-21860871	NB4	blood:	n/a
18	chr19:21860916-21860966	ECC-1	luminal epithelium:	n/a
19	chr19:21860793-21860843	HCM	heart:	n/a
20	chr19:21861136-21861186	CMK	blood:	n/a
21	chr19:21863715-21863765	GM12892	blood:	n/a
22	chr19:21860753-21860803	Hela-S3	cervix:	n/a
23	chr19:21863715-21863765	AG09309	skin:	n/a
24	chr19:21863715-21863765	SKMC	muscle:	n/a
25	chr19:21861136-21861186	AoSMC	blood vessel:	n/a
26	chr19:21860753-21860803	Jurkat	blood:	n/a
27	chr19:21860916-21860966	AG09319	gingival:	n/a
28	chr19:21861136-21861186	GM06990	blood:	n/a
29	chr19:21860793-21860843	ProgFib	skin:	n/a
30	chr19:21856821-21856871	SAEC	small airway:	n/a
31	chr19:21860793-21860843	HUVEC	blood vessel:	n/a
32	chr19:21863715-21863765	HCPEpiC	choroid plexus:	n/a
33	chr19:21860753-21860803	HUVEC	blood vessel:	n/a
34	chr19:21863715-21863765	Jurkat	blood:	n/a
35	chr19:21860821-21860871	SK-N-SH	brain:	n/a
36	chr19:21863715-21863765	PFSK-1	brain:	n/a
37	chr19:21856821-21856871	HCPEpiC	choroid plexus:	n/a
38	chr19:21861136-21861186	AG04449	skin:	fetal
39	chr19:21856821-21856871	AG04450	lung:	fetal
40	chr19:21856821-21856871	U87	brain:	n/a
41	chr19:21863715-21863765	NHBE	bronchial:	n/a
42	chr19:21861136-21861186	HL-60	blood:	n/a
43	chr19:21856821-21856871	PANC-1	pancreas:	n/a
44	chr19:21863715-21863765	HepG2	liver:	n/a
45	chr19:21860821-21860871	NHBE	bronchial:	n/a
46	chr19:21860793-21860843	HCF	heart:	n/a
47	chr19:21863715-21863765	PANC-1	pancreas:	n/a
48	chr19:21861136-21861186	PANC-1	pancreas:	n/a
49	chr19:21856821-21856871	SK-N-SH	brain:	n/a
50	chr19:21856821-21856871	T-47D	breast:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21689678..21691656-chr19:21877431..21879636,2	K562	blood:
2	chr19:21784507..21786165-chr19:21795628..21798618,2	K562	blood:

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

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

Extended variants
information (count: 3489 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:3489 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529797949	chr19:21798427-21798428	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs7259763	chr19:21798441-21798442	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs371910881	chr19:21798476-21798477	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs569500613	chr19:21798480-21798481	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188530669	chr19:21798504-21798505	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7259888	chr19:21798521-21798522	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs193161978	chr19:21798527-21798528	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74967318	chr19:21798541-21798542	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553060866	chr19:21798545-21798546	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577814680	chr19:21798655-21798656	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184724666	chr19:21798656-21798657	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534207732	chr19:21798657-21798658	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189540173	chr19:21798660-21798661	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548078391	chr19:21798672-21798673	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558385838	chr19:21798682-21798683	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575479303	chr19:21798720-21798721	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371627810	chr19:21798727-21798728	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572031427	chr19:21798730-21798731	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542583391	chr19:21798768-21798769	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534478181	chr19:21798774-21798775	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376152644	chr19:21798790-21798791	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560943563	chr19:21798832-21798833	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375435695	chr19:21798862-21798863	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80056215	chr19:21798871-21798872	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368691835	chr19:21798876-21798877	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8100536	chr19:21798879-21798880	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs565012107	chr19:21798880-21798881	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532514793	chr19:21798885-21798886	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371127105	chr19:21798890-21798891	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554736517	chr19:21798913-21798914	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12459011	chr19:21798923-21798924	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs530421524	chr19:21798925-21798926	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556477864	chr19:21798928-21798929	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548943558	chr19:21798952-21798953	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567177955	chr19:21798957-21798958	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111458218	chr19:21798958-21798959	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534548405	chr19:21798980-21798981	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112086366	chr19:21799011-21799012	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112991584	chr19:21799015-21799016	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117791884	chr19:21799027-21799028	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12463384	chr19:21799037-21799038	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs113543665	chr19:21799040-21799041	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538388546	chr19:21799098-21799099	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs58686910	chr19:21799119-21799120	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373590884	chr19:21799122-21799123	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191288692	chr19:21799138-21799139	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12971334	chr19:21799150-21799151	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554396724	chr19:21799207-21799208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs571671557	chr19:21799208-21799209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572824064	chr19:21799211-21799212	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:243 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21796000-21800600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr19:21796800-21800000	Weak transcription	Dnd41	blood
3	chr19:21797400-21798800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:21798200-21799200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:21798200-21799200	Active TSS	HUVEC	blood vessel
6	chr19:21798200-21800400	Weak transcription	K562	blood
7	chr19:21798400-21799200	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:21798400-21799200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr19:21798400-21799200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:21798800-21799200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr19:21798800-21799200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:21798800-21799200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr19:21798800-21799200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:21798800-21799200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:21798800-21799200	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr19:21798800-21799200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:21798800-21799200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr19:21798800-21799200	Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr19:21798800-21799200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:21798800-21799200	Active TSS	Stomach Smooth Muscle	stomach
21	chr19:21798800-21799200	Active TSS	HMEC	breast
22	chr19:21798800-21799200	Active TSS	NH-A	brain
23	chr19:21798800-21799200	Active TSS	NHDF-Ad	bronchial
24	chr19:21798800-21799200	Active TSS	NHEK	skin
25	chr19:21800000-21801400	Enhancers	Dnd41	blood
26	chr19:21800400-21800600	Enhancers	K562	blood
27	chr19:21800600-21801000	Flanking Active TSS	K562	blood
28	chr19:21800600-21801400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:21800800-21801200	Enhancers	Primary hematopoietic stem cells	blood
30	chr19:21801000-21801400	Enhancers	K562	blood
31	chr19:21801200-21802400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:21801400-21802800	Weak transcription	K562	blood
33	chr19:21801400-21808000	Weak transcription	Dnd41	blood
34	chr19:21802600-21802800	Enhancers	Primary hematopoietic stem cells	blood
35	chr19:21802800-21803200	Enhancers	K562	blood
36	chr19:21803200-21805600	Weak transcription	K562	blood
37	chr19:21803600-21804000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr19:21804000-21805000	Enhancers	Fetal Intestine Large	intestine
39	chr19:21804400-21804600	Enhancers	Fetal Intestine Small	intestine
40	chr19:21804600-21804800	Weak transcription	Fetal Intestine Small	intestine
41	chr19:21804600-21805200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr19:21804800-21806200	ZNF genes & repeats	Fetal Intestine Small	intestine
43	chr19:21805000-21808800	Weak transcription	Fetal Intestine Large	intestine
44	chr19:21805200-21806000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:21805400-21806600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr19:21805600-21806000	Enhancers	K562	blood
47	chr19:21805600-21806800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr19:21805600-21806800	Enhancers	Brain Germinal Matrix	brain
49	chr19:21805800-21807800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr19:21806000-21807000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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