Variant report

Variant	nsv963034
Chromosome Location	chr19:24187557-24215589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:24214317-24214504	GM12878	blood:	n/a	n/a
2	BHLHE40	chr19:24210984-24211078	GM12878	blood:	n/a	n/a
3	CEBPB	chr19:24195167-24195413	IMR90	lung:	n/a	chr19:24195278-24195289 chr19:24195276-24195287 chr19:24195276-24195289
4	CEBPB	chr19:24209958-24210065	HepG2	liver:	n/a	chr19:24209986-24209997
5	CEBPB	chr19:24195129-24195437	K562	blood:	n/a	chr19:24195278-24195289 chr19:24195276-24195287 chr19:24195276-24195289
6	CEBPB	chr19:24195127-24195427	HepG2	liver:	n/a	chr19:24195278-24195289 chr19:24195276-24195287 chr19:24195276-24195289
7	CEBPB	chr19:24212760-24212997	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:24209889-24210077	A549	lung:	n/a	chr19:24209986-24209997
9	CHD2	chr19:24213236-24213256	K562	blood:	n/a	n/a
10	CTCF	chr19:24213210-24213284	MCF-7	breast:	n/a	n/a
11	CTCF	chr19:24209802-24209826	Lung_OC	lung:	n/a	n/a
12	CTCF	chr19:24213202-24213281	K562	blood:	n/a	n/a
13	CTCF	chr19:24213120-24213270	HepG2	liver:	n/a	n/a
14	CTCF	chr19:24213220-24213370	GM12864	blood:	n/a	n/a
15	CTCF	chr19:24213127-24213288	HepG2	liver:	n/a	n/a
16	CTCF	chr19:24213200-24213350	RPTEC	kidney:	n/a	n/a
17	CTCF	chr19:24213157-24213401	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr19:24213080-24213230	SK-N-SH_RA	brain:	n/a	n/a
19	CTCF	chr19:24213155-24213307	K562	blood:	n/a	n/a
20	CTCF	chr19:24213160-24213310	NHEK	skin:	n/a	n/a
21	CTCF	chr19:24213162-24213331	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr19:24213120-24213270	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr19:24213160-24213310	HepG2	liver:	n/a	n/a
24	CTCF	chr19:24213114-24213308	HepG2	liver:	n/a	n/a
25	CTCF	chr19:24213664-24213693	Kidney_OC	kidney:	n/a	n/a
26	FOXA1	chr19:24212618-24213082	HepG2	liver:	n/a	n/a
27	FOXA1	chr19:24212644-24213149	HepG2	liver:	n/a	n/a
28	FOXA1	chr19:24212706-24213052	T-47D	breast:	n/a	n/a
29	FOXA1	chr19:24212649-24213147	HepG2	liver:	n/a	n/a
30	FOXA1	chr19:24212661-24213079	HepG2	liver:	n/a	n/a
31	FOXA1	chr19:24188697-24188910	T-47D	breast:	n/a	n/a
32	FOXA1	chr19:24212740-24213017	T-47D	breast:	n/a	n/a
33	FOXA2	chr19:24201624-24201998	A549	lung:	n/a	n/a
34	FOXA2	chr19:24212759-24213063	HepG2	liver:	n/a	n/a
35	FOXA2	chr19:24201697-24201959	A549	lung:	n/a	n/a
36	FOXA2	chr19:24201738-24201900	HepG2	liver:	n/a	n/a
37	GATA3	chr19:24190056-24190627	MCF-7	breast:	n/a	n/a
38	GATA3	chr19:24190166-24190574	MCF-7	breast:	n/a	n/a
39	MAFF	chr19:24207615-24207727	HepG2	liver:	n/a	n/a
40	MAFK	chr19:24207613-24207805	HepG2	liver:	n/a	chr19:24207703-24207718
41	MAFK	chr19:24207652-24207797	HepG2	liver:	n/a	chr19:24207703-24207718
42	MAX	chr19:24207001-24207180	NB4	blood:	n/a	n/a
43	MAZ	chr19:24213187-24213250	HepG2	liver:	n/a	n/a
44	MAZ	chr19:24215374-24217230	IMR90	lung:	n/a	n/a
45	NFIC	chr19:24214211-24214577	GM12878	blood:	n/a	n/a
46	POLR2A	chr19:24195455-24195595	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr19:24211369-24211494	GM12878	blood:	n/a	n/a
48	POLR2A	chr19:24191962-24192334	K562	blood:	n/a	n/a
49	POLR2A	chr19:24195428-24195598	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr19:24187510-24187573	ProgFib	skin:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:24190718..24193776-chr19:24211395..24214103,3	K562	blood:
2	chr19:24209923..24213796-chr19:24214029..24216257,3	MCF-7	breast:
3	chr19:24193099..24195417-chr19:24269900..24272452,2	K562	blood:
4	chr19:24190718..24193776-chr19:24211395..24214103,3	K562	blood:
5	chr19:23597097..23600084-chr19:24215418..24217838,2	MCF-7	breast:
6	chr19:24208713..24212092-chr19:24216129..24218537,3	K562	blood:
7	chr19:24212558..24214864-chr19:24216760..24218557,2	MCF-7	breast:
8	chr19:24214637..24216513-chr19:24268176..24271021,2	K562	blood:
9	chr19:24214690..24216513-chr19:24269521..24272423,2	K562	blood:

No data

Variant related genes	Relation type
ZNF254	TF binding region
RNA5-8SP4	TF binding region
ENSG00000268362	TF binding region
ENSG00000269416	chromatin interactions
ENSG00000268362	chromatin interactions
ENSG00000213096	chromatin interactions

Extended variants
information (count: 655 )
Associated
traits (count: 42 )

Variant overlapped rSNPs/rCNVs (count:655 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10451494	chr19:24187566-24187567	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs11880930	chr19:24187599-24187600	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs376386207	chr19:24187638-24187639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533074880	chr19:24187651-24187652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143375260	chr19:24187658-24187659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370466586	chr19:24187678-24187679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563326185	chr19:24187695-24187696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530648882	chr19:24187696-24187697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs73026963	chr19:24187697-24187698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs146739010	chr19:24187711-24187712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189774577	chr19:24187718-24187719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11883380	chr19:24187740-24187741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs373551322	chr19:24187759-24187760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139371687	chr19:24187766-24187767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538947159	chr19:24187836-24187837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11878190	chr19:24187854-24187855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs575721168	chr19:24187875-24187876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560902811	chr19:24187903-24187904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs555060915	chr19:24187908-24187909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62116410	chr19:24187944-24187945	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs544384748	chr19:24187964-24187965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192899109	chr19:24187970-24187971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73518573	chr19:24187972-24187973	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs75390703	chr19:24188024-24188025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs398071177	chr19:24188025-24188026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577905593	chr19:24188053-24188054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113792846	chr19:24188084-24188085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544943943	chr19:24188098-24188099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563522747	chr19:24188160-24188161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530576147	chr19:24188189-24188190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184591400	chr19:24188206-24188207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372128458	chr19:24188250-24188251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149958874	chr19:24188266-24188267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118150893	chr19:24188305-24188306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571121917	chr19:24188312-24188313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532861593	chr19:24188313-24188314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550946782	chr19:24188358-24188359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62116411	chr19:24188407-24188408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs145694674	chr19:24188420-24188421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62116412	chr19:24188439-24188440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs62116413	chr19:24188470-24188471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs534272623	chr19:24188478-24188479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553826669	chr19:24188480-24188481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577143731	chr19:24188486-24188487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143675533	chr19:24188487-24188488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557012778	chr19:24188491-24188492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575179561	chr19:24188529-24188530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62116414	chr19:24188544-24188545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs546845758	chr19:24188545-24188546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560732521	chr19:24188570-24188571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:42)

Disease	PMID	Source
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
Ductal carcinoma	22052326	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	19287141	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24183600-24187600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:24185600-24188000	Weak transcription	Right Atrium	heart
3	chr19:24187200-24190400	Weak transcription	Gastric	stomach
4	chr19:24189800-24190000	Enhancers	Placenta	Placenta
5	chr19:24190400-24191000	Enhancers	Gastric	stomach
6	chr19:24190600-24190800	Enhancers	Placenta	Placenta
7	chr19:24201000-24202800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:24201400-24201800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr19:24201400-24203000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr19:24201400-24203200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:24212000-24212600	Enhancers	HepG2	liver
12	chr19:24212200-24215800	Enhancers	Primary B cells from peripheral blood	blood
13	chr19:24212600-24213000	Flanking Active TSS	HepG2	liver
14	chr19:24213000-24213200	Enhancers	HepG2	liver
15	chr19:24213200-24213400	Enhancers	Fetal Muscle Trunk	muscle
16	chr19:24213200-24215400	Weak transcription	HepG2	liver
17	chr19:24213400-24213600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr19:24213400-24213600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:24213600-24214600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr19:24213800-24215200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:24214200-24215400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:24214600-24215600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr19:24214600-24215600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:24214600-24215800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:24214800-24215200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr19:24214800-24215600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr19:24214800-24215600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr19:24215000-24215400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr19:24215000-24215600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr19:24215000-24215600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr19:24215200-24215400	Enhancers	Dnd41	blood
32	chr19:24215200-24215600	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr19:24215200-24215800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:24215200-24216000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr19:24215400-24215600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:24215400-24215600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:24215400-24215600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:24215400-24215600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:24215400-24215600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:24215400-24215600	ZNF genes & repeats	A549	lung
41	chr19:24215400-24215800	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr19:24215400-24215800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr19:24215400-24215800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr19:24215400-24215800	Enhancers	Fetal Thymus	thymus
45	chr19:24215400-24215800	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr19:24215400-24215800	Enhancers	HepG2	liver
47	chr19:24215400-24216000	Flanking Active TSS	Dnd41	blood
48	chr19:24215400-24217600	Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links