Variant report

Variant	nsv519070
Chromosome Location	chr19:53114267-53115843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:53105509..53107487-chr19:53113900..53115997,2	K562	blood:
2	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:
3	chr19:53109871..53112715-chr19:53114135..53116216,3	K562	blood:
4	chr19:52406735..52408758-chr19:53114766..53117318,2	K562	blood:
5	chr19:53110675..53112715-chr19:53114135..53115659,2	K562	blood:

Variant related genes	Relation type
ENSG00000198093	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10409120	chr19:53114267-53114268	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567972340	chr19:53114333-53114334	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs150845297	chr19:53114352-53114353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111919834	chr19:53114356-53114357	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547159325	chr19:53114404-53114405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113772777	chr19:53114415-53114416	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558408656	chr19:53114417-53114418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59594693	chr19:53114423-53114424	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs534064125	chr19:53114449-53114450	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558990940	chr19:53114474-53114475	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60011015	chr19:53114477-53114478	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111267266	chr19:53114482-53114483	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143339182	chr19:53114488-53114489	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556906393	chr19:53114518-53114519	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187545677	chr19:53114542-53114543	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112286254	chr19:53114566-53114567	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374048787	chr19:53114571-53114572	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371776307	chr19:53114572-53114573	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572577706	chr19:53114582-53114583	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146249399	chr19:53114586-53114587	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564198909	chr19:53114596-53114597	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139368294	chr19:53114601-53114602	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113025856	chr19:53114610-53114611	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560752689	chr19:53114615-53114616	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192280762	chr19:53114627-53114628	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572662932	chr19:53114637-53114638	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184300359	chr19:53114640-53114641	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113455332	chr19:53114641-53114642	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533151592	chr19:53114660-53114661	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552433011	chr19:53114661-53114662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368547178	chr19:53114671-53114672	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs148606017	chr19:53114672-53114673	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565232284	chr19:53114701-53114702	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188680037	chr19:53114705-53114706	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372973877	chr19:53114709-53114710	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142081464	chr19:53114712-53114713	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147789376	chr19:53114727-53114728	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192864142	chr19:53114738-53114739	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572592652	chr19:53114747-53114748	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565684689	chr19:53114761-53114762	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539981017	chr19:53114768-53114769	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs113336347	chr19:53114771-53114772	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376446871	chr19:53114812-53114813	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs147076570	chr19:53114815-53114816	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184623539	chr19:53114868-53114869	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189511434	chr19:53114869-53114870	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs117478190	chr19:53114873-53114874	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147721453	chr19:53114891-53114892	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559591128	chr19:53114894-53114895	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs79126785	chr19:53114918-53114919	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance

Variant related diseases (count:65)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53105000-53115800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:53105200-53115800	Weak transcription	HUVEC	blood vessel
3	chr19:53105200-53116200	Weak transcription	Left Ventricle	heart
4	chr19:53105200-53116600	Weak transcription	Brain Substantia Nigra	brain
5	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
6	chr19:53105400-53114800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr19:53105400-53115600	Weak transcription	HSMM	muscle
8	chr19:53105400-53116000	Weak transcription	Fetal Brain Female	brain
9	chr19:53105400-53116400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr19:53105400-53116400	Weak transcription	Ovary	ovary
11	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
12	chr19:53105600-53114800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:53105600-53115000	Weak transcription	Pancreas	Pancrea
14	chr19:53105600-53115400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:53105600-53115400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:53105600-53115400	Weak transcription	Brain Germinal Matrix	brain
17	chr19:53105600-53115600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:53105600-53115600	Weak transcription	Adipose Nuclei	Adipose
19	chr19:53105600-53116200	Weak transcription	Brain Anterior Caudate	brain
20	chr19:53105800-53114600	Weak transcription	Gastric	stomach
21	chr19:53105800-53115200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr19:53105800-53115400	Weak transcription	Fetal Lung	lung
23	chr19:53105800-53115400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr19:53105800-53115600	Weak transcription	Placenta	Placenta
25	chr19:53105800-53116200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:53105800-53116200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:53105800-53116200	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:53105800-53116400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:53105800-53117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:53105800-53129000	Weak transcription	Hela-S3	cervix
31	chr19:53106000-53115400	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr19:53106000-53115600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr19:53106000-53115600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr19:53106000-53115600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr19:53106000-53115600	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr19:53106200-53116400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr19:53106400-53116400	Weak transcription	Fetal Kidney	kidney
38	chr19:53106600-53114600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
39	chr19:53106800-53116000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr19:53107000-53136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr19:53107400-53115400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr19:53107400-53115600	Weak transcription	K562	blood
43	chr19:53107600-53115600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:53108600-53115000	Weak transcription	Thymus	Thymus
45	chr19:53108600-53115200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:53109000-53116200	Weak transcription	Fetal Muscle Leg	muscle
47	chr19:53109200-53115400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:53109600-53115400	Weak transcription	Colonic Mucosa	Colon
49	chr19:53110200-53115400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:53110400-53115600	Weak transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links