Variant report

Variant	nsv961237
Chromosome Location	chr19:53137692-53139858
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53139623..53144311-chr19:53192220..53194807,4	MCF-7	breast:
2	chr19:53128911..53130963-chr19:53136725..53138232,2	K562	blood:

Variant related genes	Relation type
ENSG00000167766	chromatin interactions

Extended variants
information (count: 122 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8106428	chr19:53137729-53137730	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs8107336	chr19:53137773-53137774	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs8106667	chr19:53137782-53137783	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs193230392	chr19:53137791-53137792	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563237265	chr19:53137837-53137838	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs368617134	chr19:53137838-53137839	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569882831	chr19:53137845-53137846	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs60700758	chr19:53137847-53137848	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs549178782	chr19:53137867-53137868	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs71335664	chr19:53137880-53137881	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs12976894	chr19:53137881-53137882	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs548686613	chr19:53137909-53137910	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs6509658	chr19:53137943-53137944	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs6509659	chr19:53137980-53137981	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs539750849	chr19:53138015-53138016	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370190603	chr19:53138030-53138031	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375838942	chr19:53138040-53138041	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557993032	chr19:53138053-53138054	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576249827	chr19:53138067-53138068	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543635835	chr19:53138068-53138069	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs6509660	chr19:53138091-53138092	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573729238	chr19:53138093-53138094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs145646039	chr19:53138098-53138099	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs138270795	chr19:53138103-53138104	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs568411663	chr19:53138113-53138114	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs531147907	chr19:53138114-53138115	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs202099366	chr19:53138156-53138157	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs566237882	chr19:53138158-53138159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs545343998	chr19:53138173-53138174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs185450584	chr19:53138177-53138178	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs530811055	chr19:53138212-53138213	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs400781	chr19:53138219-53138220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs10559596	chr19:53138228-53138229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs141330934	chr19:53138230-53138231	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs397821988	chr19:53138233-53138234	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558535587	chr19:53138289-53138290	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs567344068	chr19:53138302-53138303	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529390971	chr19:53138303-53138304	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547534250	chr19:53138329-53138330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs550720478	chr19:53138340-53138341	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566078401	chr19:53138389-53138390	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs539417640	chr19:53138406-53138407	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs10775556	chr19:53138422-53138423	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs423403	chr19:53138444-53138445	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs190305125	chr19:53138478-53138479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555933647	chr19:53138485-53138486	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs555443566	chr19:53138492-53138493	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs574114114	chr19:53138536-53138537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs55816064	chr19:53138546-53138547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs541135925	chr19:53138561-53138562	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

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:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53117800-53140400	Weak transcription	Brain Substantia Nigra	brain
2	chr19:53117800-53140400	Weak transcription	Fetal Heart	heart
3	chr19:53118000-53140400	Weak transcription	Right Ventricle	heart
4	chr19:53120600-53139800	Weak transcription	NHLF	lung
5	chr19:53121200-53140800	Weak transcription	HSMMtube	muscle
6	chr19:53121400-53140200	Weak transcription	NHDF-Ad	bronchial
7	chr19:53121400-53140400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:53121400-53140400	Weak transcription	Stomach Mucosa	stomach
9	chr19:53121400-53140400	Weak transcription	NH-A	brain
10	chr19:53121600-53140200	Weak transcription	HepG2	liver
11	chr19:53121600-53140800	Weak transcription	Brain Angular Gyrus	brain
12	chr19:53122200-53140400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr19:53123200-53139600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:53123200-53140400	Weak transcription	Brain Anterior Caudate	brain
15	chr19:53123200-53140400	Weak transcription	HMEC	breast
16	chr19:53125000-53140600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr19:53126200-53140400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:53126200-53140400	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:53126600-53140400	Weak transcription	Pancreas	Pancrea
20	chr19:53126600-53140400	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr19:53127000-53140800	Weak transcription	Ovary	ovary
22	chr19:53127800-53138000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:53128000-53140200	Weak transcription	Fetal Kidney	kidney
24	chr19:53128800-53140000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:53129000-53140200	Weak transcription	Brain Germinal Matrix	brain
26	chr19:53129000-53140600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr19:53129200-53140200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr19:53129200-53140400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:53129200-53140400	Weak transcription	Fetal Thymus	thymus
30	chr19:53129200-53140600	Weak transcription	Colonic Mucosa	Colon
31	chr19:53129200-53140800	Weak transcription	Small Intestine	intestine
32	chr19:53129600-53138000	Weak transcription	Gastric	stomach
33	chr19:53129600-53140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr19:53129600-53140400	Weak transcription	Spleen	Spleen
35	chr19:53129600-53140600	Weak transcription	HSMM	muscle
36	chr19:53129800-53140200	Weak transcription	Primary hematopoietic stem cells	blood
37	chr19:53129800-53140400	Weak transcription	Brain Hippocampus Middle	brain
38	chr19:53130000-53140600	Weak transcription	Rectal Smooth Muscle	rectum
39	chr19:53130000-53140800	Weak transcription	Aorta	Aorta
40	chr19:53130200-53140200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:53130200-53140200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr19:53130400-53140800	Weak transcription	Left Ventricle	heart
43	chr19:53130600-53140400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr19:53130600-53140400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr19:53130600-53140400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:53130600-53140800	Weak transcription	Fetal Brain Female	brain
47	chr19:53130600-53140800	Weak transcription	Psoas Muscle	Psoas
48	chr19:53131000-53139600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:53131000-53139800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:53131000-53140200	Weak transcription	Primary B cells from cord blood	blood

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