Variant report

Variant	esv3489578
Chromosome Location	chr19:53079641-53084219
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	chr19:53073084..53075502-chr19:53084084..53086911,2	K562	blood:
2	chr19:53072947..53075360-chr19:53081572..53083842,2	K562	blood:

Variant related genes	Relation type
ENSG00000167562	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541519358	chr19:53079651-53079652	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs559548688	chr19:53079657-53079658	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs184309782	chr19:53079658-53079659	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs545445873	chr19:53079677-53079678	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs563657751	chr19:53079702-53079703	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs77381776	chr19:53079708-53079709	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs549666519	chr19:53079709-53079710	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs75081384	chr19:53079717-53079718	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115677709	chr19:53079718-53079719	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs141406141	chr19:53079728-53079729	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs571252751	chr19:53079763-53079764	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs538522567	chr19:53079768-53079769	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs571303870	chr19:53079786-53079787	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs189766621	chr19:53079866-53079867	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556576885	chr19:53079867-53079868	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs201183096	chr19:53079877-53079878	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs375676265	chr19:53079886-53079887	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs77838395	chr19:53079899-53079900	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs538896659	chr19:53079912-53079913	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs192886591	chr19:53079956-53079957	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs162827	chr19:53079984-53079985	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs370206880	chr19:53079994-53079995	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10164361	chr19:53079997-53079998	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs536367936	chr19:53080006-53080007	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533792969	chr19:53080010-53080011	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs558694325	chr19:53080013-53080014	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs578062212	chr19:53080020-53080021	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs139290405	chr19:53080029-53080030	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs554328613	chr19:53080050-53080051	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs189551273	chr19:53080058-53080059	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs575661254	chr19:53080084-53080085	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs116875866	chr19:53080115-53080116	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs561464281	chr19:53080138-53080139	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs180742446	chr19:53080156-53080157	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs10164362	chr19:53080162-53080163	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374755446	chr19:53080180-53080181	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs368785211	chr19:53080190-53080191	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs112031381	chr19:53080205-53080206	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs162826	chr19:53080240-53080241	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs139600747	chr19:53080251-53080252	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535805613	chr19:53080254-53080255	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs115173841	chr19:53080293-53080294	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs386810504	chr19:53080309-53080310	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs189284599	chr19:53080310-53080311	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs144113163	chr19:53080328-53080329	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs576941250	chr19:53080336-53080337	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs539135570	chr19:53080337-53080338	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370496436	chr19:53080342-53080343	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs573777140	chr19:53080381-53080382	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs8109588	chr19:53080426-53080427	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074200-53080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr19:53074200-53083600	Weak transcription	NH-A	brain
3	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:53074400-53085800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
5	chr19:53074600-53079800	Weak transcription	NHDF-Ad	bronchial
6	chr19:53074600-53084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:53074600-53085800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:53074600-53087400	Weak transcription	Fetal Heart	heart
9	chr19:53074600-53088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
11	chr19:53074800-53079800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:53075000-53082000	Strong transcription	Fetal Muscle Leg	muscle
13	chr19:53075000-53082600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr19:53075200-53080600	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr19:53075200-53081600	Weak transcription	Right Ventricle	heart
16	chr19:53075200-53082200	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr19:53075200-53082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:53075400-53079800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr19:53075400-53079800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr19:53075400-53079800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr19:53075400-53081800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:53075400-53084400	Strong transcription	Placenta	Placenta
23	chr19:53075400-53089600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:53075400-53092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:53075400-53092400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:53075400-53092400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
27	chr19:53075600-53080200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:53075600-53083400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:53075600-53085600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
30	chr19:53075600-53087000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:53075600-53087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr19:53075800-53080400	Strong transcription	Fetal Thymus	thymus
33	chr19:53075800-53081400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr19:53075800-53082000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:53075800-53082400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr19:53075800-53082400	Strong transcription	Left Ventricle	heart
37	chr19:53075800-53082400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr19:53075800-53085000	Strong transcription	Fetal Stomach	stomach
39	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:53075800-53087400	Strong transcription	Osteobl	bone
42	chr19:53075800-53088000	Strong transcription	Rectal Smooth Muscle	rectum
43	chr19:53076000-53081000	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr19:53076000-53082000	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:53076000-53082200	Strong transcription	Adipose Nuclei	Adipose
46	chr19:53076400-53096000	Strong transcription	Dnd41	blood
47	chr19:53076600-53081600	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:53077000-53082400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:53077600-53088000	Strong transcription	Fetal Brain Female	brain
50	chr19:53077800-53079800	Weak transcription	HMEC	breast

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