Variant report

Variant	nsv1062848
Chromosome Location	chr19:24230355-24248611
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:24220010..24221718-chr19:24229974..24232920,2	K562	blood:
2	chr19:24215685..24217205-chr19:24228319..24230733,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF681-4	chr19:24242644-24243263	NONHSAT063954
2	lnc-ZNF254-1	chr19:24240733-24240767	NONHSAT063955
3	lnc-ZNF254-1	chr19:24232253-24232641	NONHSAT063955
4	lnc-ZNF681-4	chr19:24232042-24232758	NONHSAT063954
5	lnc-ZNF681-4	chr19:24245777-24246420	NONHSAT063954
6	lnc-ZNF681-4	chr19:24240392-24241030	NONHSAT063954
7	lnc-ZNF681-4	chr19:24231737-24231816	NONHSAT063954
8	lnc-ZNF681-4	chr19:24231276-24231697	NONHSAT063954

No data

Variant related genes	Relation type
ENSG00000268362	chromatin interactions
ENSG00000213096	chromatin interactions

Extended variants
information (count: 777 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:777 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs56711208	chr19:24230356-24230357	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs370182242	chr19:24230390-24230391	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs561271048	chr19:24230399-24230400	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs113058454	chr19:24230415-24230416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs386388790	chr19:24230416-24230417	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs10688378	chr19:24230417-24230418	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144220899	chr19:24230427-24230428	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540367692	chr19:24230438-24230439	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187602212	chr19:24230456-24230457	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs191160932	chr19:24230549-24230550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs182475644	chr19:24230550-24230551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs62113750	chr19:24230588-24230589	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs188456806	chr19:24230616-24230617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs530359240	chr19:24230618-24230619	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs61014916	chr19:24230620-24230621	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs565651767	chr19:24230632-24230633	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs560361414	chr19:24230737-24230738	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527870278	chr19:24230754-24230755	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534684433	chr19:24230779-24230780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570811193	chr19:24230782-24230783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192682245	chr19:24230784-24230785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4932939	chr19:24230785-24230786	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75804205	chr19:24230797-24230798	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs76191559	chr19:24230802-24230803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143083084	chr19:24230805-24230806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541209593	chr19:24230808-24230809	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398034320	chr19:24230828-24230829	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142779812	chr19:24230829-24230830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568451996	chr19:24230831-24230832	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113011717	chr19:24230832-24230833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs147247294	chr19:24230840-24230841	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573082235	chr19:24230877-24230878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533924613	chr19:24230909-24230910	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs8110727	chr19:24230916-24230917	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs7257502	chr19:24230917-24230918	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs62113751	chr19:24231010-24231011	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs141263767	chr19:24231030-24231031	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150795788	chr19:24231043-24231044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562371240	chr19:24231071-24231072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574091984	chr19:24231098-24231099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545694540	chr19:24231112-24231113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374374896	chr19:24231119-24231120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560373969	chr19:24231124-24231125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111462744	chr19:24231135-24231136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192054958	chr19:24231136-24231137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147315506	chr19:24231138-24231139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73017373	chr19:24231143-24231144	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs73520396	chr19:24231160-24231161	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs368999455	chr19:24231177-24231178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs35713415	chr19:24231229-24231230	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:41)

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
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:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:24217400-24257600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:24217600-24230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr19:24217600-24258400	Weak transcription	Psoas Muscle	Psoas
4	chr19:24218200-24230600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:24218200-24231000	Weak transcription	HMEC	breast
6	chr19:24218400-24230800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:24218800-24231000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:24218800-24232400	Weak transcription	Stomach Mucosa	stomach
9	chr19:24220000-24232200	Weak transcription	K562	blood
10	chr19:24220000-24256800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:24220200-24230800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:24220200-24231600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr19:24221200-24244600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:24221800-24231200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr19:24222000-24231000	Weak transcription	HepG2	liver
16	chr19:24222000-24231400	Weak transcription	Fetal Brain Male	brain
17	chr19:24222000-24234200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:24222200-24230800	Weak transcription	Esophagus	oesophagus
19	chr19:24222600-24233200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:24223000-24230800	Weak transcription	NHLF	lung
21	chr19:24223200-24231000	Weak transcription	Small Intestine	intestine
22	chr19:24223600-24230800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:24223600-24232200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:24223800-24233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:24223800-24243400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:24224000-24231400	Weak transcription	Primary B cells from cord blood	blood
27	chr19:24224800-24235400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr19:24224800-24244600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr19:24225000-24244400	Strong transcription	Thymus	Thymus
30	chr19:24225000-24245400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:24225000-24252000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:24225000-24257600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:24225200-24236600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr19:24225200-24244200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr19:24225200-24244600	Strong transcription	Fetal Stomach	stomach
36	chr19:24225200-24251800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:24225400-24236400	Strong transcription	Fetal Intestine Large	intestine
38	chr19:24225400-24237400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr19:24225400-24239400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr19:24225400-24244200	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr19:24225400-24244200	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr19:24225400-24244400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr19:24225400-24244400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr19:24225400-24244600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:24225400-24244600	Strong transcription	Stomach Smooth Muscle	stomach
46	chr19:24225400-24251800	Strong transcription	Liver	Liver
47	chr19:24225400-24256400	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:24226200-24230800	Weak transcription	HSMM	muscle
49	chr19:24226800-24230800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr19:24226800-24257200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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