Variant report

Variant	nsv1059342
Chromosome Location	chr19:24348669-24596738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:625)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:625 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:24572572-24572769	K562	blood:	n/a	n/a
2	ATF1	chr19:24537676-24537697	K562	blood:	n/a	n/a
3	BACH1	chr19:24570626-24570998	K562	blood:	n/a	n/a
4	BACH1	chr19:24390853-24391219	K562	blood:	n/a	n/a
5	BACH1	chr19:24552889-24553266	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr19:24400119-24400496	K562	blood:	n/a	n/a
7	BATF	chr19:24474207-24474368	GM12878	blood:	n/a	n/a
8	BATF	chr19:24474206-24474374	GM12878	blood:	n/a	n/a
9	BATF	chr19:24571012-24571239	GM12878	blood:	n/a	n/a
10	BATF	chr19:24570687-24570875	GM12878	blood:	n/a	n/a
11	BATF	chr19:24582770-24582985	GM12878	blood:	n/a	n/a
12	BATF	chr19:24576279-24576567	GM12878	blood:	n/a	n/a
13	BATF	chr19:24574162-24574361	GM12878	blood:	n/a	n/a
14	BATF	chr19:24570943-24571253	GM12878	blood:	n/a	n/a
15	BATF	chr19:24583053-24583342	GM12878	blood:	n/a	n/a
16	BCL11A	chr19:24582801-24582947	GM12878	blood:	n/a	n/a
17	BCL11A	chr19:24574198-24574495	GM12878	blood:	n/a	n/a
18	BCL11A	chr19:24596155-24596510	GM12878	blood:	n/a	n/a
19	BCL11A	chr19:24570959-24571186	GM12878	blood:	n/a	n/a
20	BCL11A	chr19:24583048-24583303	GM12878	blood:	n/a	n/a
21	BCL11A	chr19:24570956-24571191	GM12878	blood:	n/a	n/a
22	BCL11A	chr19:24574148-24574433	GM12878	blood:	n/a	n/a
23	BCL11A	chr19:24474214-24474366	GM12878	blood:	n/a	n/a
24	BCL11A	chr19:24474135-24474384	GM12878	blood:	n/a	n/a
25	BHLHE40	chr19:24400119-24400495	K562	blood:	n/a	n/a
26	BHLHE40	chr19:24583129-24583373	HepG2	liver:	n/a	n/a
27	BHLHE40	chr19:24390853-24391220	K562	blood:	n/a	n/a
28	BHLHE40	chr19:24571025-24571255	HepG2	liver:	n/a	n/a
29	BHLHE40	chr19:24576309-24576577	HepG2	liver:	n/a	n/a
30	BHLHE40	chr19:24443344-24443416	GM12878	blood:	n/a	n/a
31	BHLHE40	chr19:24397872-24397882	K562	blood:	n/a	n/a
32	BHLHE40	chr19:24400205-24400377	HepG2	liver:	n/a	n/a
33	BRCA1	chr19:24390859-24391172	GM12878	blood:	n/a	n/a
34	BRCA1	chr19:24397746-24398044	GM12878	blood:	n/a	n/a
35	BRCA1	chr19:24565150-24565159	GM12878	blood:	n/a	n/a
36	BRCA1	chr19:24397698-24397890	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr19:24375573-24375955	IMR90	lung:	n/a	chr19:24375690-24375701
38	CEBPB	chr19:24371886-24371892	A549	lung:	n/a	n/a
39	CEBPB	chr19:24541988-24542011	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr19:24372590-24372792	K562	blood:	n/a	n/a
41	CEBPB	chr19:24372849-24372997	IMR90	lung:	n/a	n/a
42	CEBPB	chr19:24549689-24550027	A549	lung:	n/a	chr19:24549868-24549879
43	CEBPB	chr19:24486569-24486592	IMR90	lung:	n/a	n/a
44	CEBPB	chr19:24367145-24367873	HepG2	liver:	n/a	n/a
45	CEBPB	chr19:24367168-24367446	IMR90	lung:	n/a	n/a
46	CEBPB	chr19:24546893-24547184	A549	lung:	n/a	n/a
47	CEBPB	chr19:24540113-24540409	A549	lung:	n/a	chr19:24540235-24540246
48	CEBPB	chr19:24372502-24372751	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr19:24349024-24349030	HepG2	liver:	n/a	n/a
50	CEBPB	chr19:24548356-24548682	A549	lung:	n/a	chr19:24548530-24548541

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:121483249..121485033-chr19:24456855..24458356,4	K562	blood:
2	chr1:121483249..121485033-chr19:24456836..24458356,4	K562	blood:

No data

Variant related genes	Relation type
HAVCR1P1	TF binding region

Extended variants
information (count: 14576 )
Associated
traits (count: 43 )

Variant overlapped rSNPs/rCNVs (count:14576 , 50 per page) page: 1 2 3 4 5 6 7 ... 292

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566994658	chr19:24348691-24348692	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs552472538	chr19:24348701-24348702	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs534030383	chr19:24348717-24348718	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs183089372	chr19:24348718-24348719	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs185170663	chr19:24348724-24348725	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566010570	chr19:24348726-24348727	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538215612	chr19:24348747-24348748	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs557297960	chr19:24348753-24348754	Weak transcription ZNF genes & repeats Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs575571448	chr19:24348776-24348777	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567779732	chr19:24348847-24348848	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs542850498	chr19:24348884-24348885	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs554467549	chr19:24348898-24348899	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs534922103	chr19:24348903-24348904	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs572924977	chr19:24348918-24348919	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs7508396	chr19:24348925-24348926	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs574494486	chr19:24348943-24348944	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs375689728	chr19:24348947-24348948	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs140893044	chr19:24349024-24349025	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs531999185	chr19:24349028-24349029	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs17000634	chr19:24349038-24349039	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149976827	chr19:24349059-24349060	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs530319606	chr19:24349065-24349066	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs548810008	chr19:24349076-24349077	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs537154349	chr19:24349083-24349084	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs556362511	chr19:24349085-24349086	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs556743241	chr19:24349109-24349110	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs145177769	chr19:24349120-24349121	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs527852250	chr19:24349124-24349125	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576791236	chr19:24349144-24349145	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377674211	chr19:24349156-24349157	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs77809796	chr19:24349160-24349161	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372233232	chr19:24349176-24349177	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs76131172	chr19:24349180-24349181	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs190704051	chr19:24349182-24349183	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs183418902	chr19:24349187-24349188	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs10422059	chr19:24349209-24349210	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201514111	chr19:24349213-24349214	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs550591228	chr19:24349243-24349244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540391775	chr19:24349252-24349253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558231954	chr19:24349253-24349254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576487659	chr19:24349268-24349269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543844405	chr19:24349270-24349271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562139953	chr19:24349271-24349272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542543552	chr19:24349299-24349300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145050316	chr19:24349325-24349326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35066508	chr19:24349326-24349327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560032436	chr19:24349378-24349379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542143292	chr19:24349386-24349387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560810404	chr19:24349403-24349404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527884799	chr19:24349406-24349407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:43)

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	21248843	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
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:392 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24320800-24349200	Weak transcription	Right Ventricle	heart
2	chr19:24328600-24349400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:24334400-24349000	Weak transcription	Fetal Heart	heart
4	chr19:24337000-24359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:24339400-24351200	Weak transcription	HSMM	muscle
6	chr19:24344400-24354800	Weak transcription	Dnd41	blood
7	chr19:24345800-24349200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:24346000-24357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:24346400-24357200	Weak transcription	Left Ventricle	heart
10	chr19:24346800-24350000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr19:24347800-24357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:24348000-24348800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:24348400-24350000	Enhancers	HSMMtube	muscle
14	chr19:24348800-24349000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:24349000-24349200	Enhancers	Fetal Heart	heart
16	chr19:24349000-24349400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:24349400-24352400	Weak transcription	Ovary	ovary
18	chr19:24349800-24350200	ZNF genes & repeats	Aorta	Aorta
19	chr19:24350000-24350200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:24350000-24354000	Weak transcription	HSMMtube	muscle
21	chr19:24350200-24353800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:24351400-24355200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:24352200-24355000	ZNF genes & repeats	Fetal Brain Female	brain
24	chr19:24352400-24354000	Strong transcription	Ovary	ovary
25	chr19:24352800-24355800	ZNF genes & repeats	Brain Germinal Matrix	brain
26	chr19:24353600-24354800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:24353800-24354200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr19:24354000-24355000	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr19:24354000-24356800	Weak transcription	Ovary	ovary
30	chr19:24354200-24356600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:24356600-24356800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr19:24356800-24357400	ZNF genes & repeats	Ovary	ovary
33	chr19:24357400-24360200	Weak transcription	Ovary	ovary
34	chr19:24360200-24361000	ZNF genes & repeats	Ovary	ovary
35	chr19:24360400-24361400	ZNF genes & repeats	Fetal Brain Female	brain
36	chr19:24360400-24361600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr19:24360400-24362200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
38	chr19:24360400-24363600	ZNF genes & repeats	Liver	Liver
39	chr19:24360600-24361800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:24360600-24363400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
41	chr19:24360600-24364400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr19:24361400-24362600	ZNF genes & repeats	Fetal Lung	lung
43	chr19:24362400-24364400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
44	chr19:24363000-24364000	ZNF genes & repeats	Adipose Nuclei	Adipose
45	chr19:24364000-24365600	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr19:24365600-24365800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
47	chr19:24379600-24380600	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr19:24385400-24389600	ZNF genes & repeats	Liver	Liver
49	chr19:24387200-24389400	ZNF genes & repeats	Adipose Nuclei	Adipose
50	chr19:24387400-24389600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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