Variant report

Variant	esv3318622
Chromosome Location	chr19:53081903-53083561
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	chr19:53072947..53075360-chr19:53081572..53083842,2	K562	blood:

Variant related genes	Relation type
ENSG00000167562	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188584393	chr19:53081979-53081980	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs529425264	chr19:53082034-53082035	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148822825	chr19:53082036-53082037	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs8111002	chr19:53082041-53082042	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs192851189	chr19:53082050-53082051	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564757892	chr19:53082052-53082053	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549761359	chr19:53082055-53082056	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs568762904	chr19:53082066-53082067	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147584514	chr19:53082071-53082072	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs554362208	chr19:53082072-53082073	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572520006	chr19:53082073-53082074	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs550352313	chr19:53082079-53082080	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184954911	chr19:53082080-53082081	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs189412155	chr19:53082102-53082103	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543492843	chr19:53082111-53082112	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561506903	chr19:53082135-53082136	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375644910	chr19:53082136-53082137	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374097487	chr19:53082141-53082142	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540937970	chr19:53082147-53082148	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs549601388	chr19:53082154-53082155	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs563032434	chr19:53082156-53082157	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs142081293	chr19:53082166-53082167	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs113496491	chr19:53082167-53082168	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs386810506	chr19:53082171-53082172	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs148350927	chr19:53082172-53082173	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs62117239	chr19:53082202-53082203	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77232599	chr19:53082242-53082243	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568327942	chr19:53082260-53082261	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs79795719	chr19:53082277-53082278	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs547728885	chr19:53082278-53082279	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs8110439	chr19:53082292-53082293	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs540079887	chr19:53082295-53082296	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs539275023	chr19:53082296-53082297	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs191445449	chr19:53082298-53082299	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs35155974	chr19:53082305-53082306	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs117033318	chr19:53082336-53082337	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs117303925	chr19:53082373-53082374	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs114371582	chr19:53082374-53082375	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs8110548	chr19:53082446-53082447	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541324829	chr19:53082476-53082477	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183770016	chr19:53082479-53082480	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62117240	chr19:53082498-53082499	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs544831224	chr19:53082507-53082508	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs563125633	chr19:53082545-53082546	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189621271	chr19:53082550-53082551	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531706547	chr19:53082574-53082575	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs576345291	chr19:53082615-53082616	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142750374	chr19:53082665-53082666	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs562117402	chr19:53082670-53082671	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540330970	chr19:53082684-53082685	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53074200-53083600	Weak transcription	NH-A	brain
2	chr19:53074200-53087800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:53074400-53085800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
4	chr19:53074600-53084800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:53074600-53085800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:53074600-53087400	Weak transcription	Fetal Heart	heart
7	chr19:53074600-53088000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:53074600-53103600	Weak transcription	Fetal Brain Male	brain
9	chr19:53075000-53082000	Strong transcription	Fetal Muscle Leg	muscle
10	chr19:53075000-53082600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:53075200-53082200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:53075200-53082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr19:53075400-53084400	Strong transcription	Placenta	Placenta
14	chr19:53075400-53089600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:53075400-53092200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:53075400-53092400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:53075400-53092400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr19:53075600-53083400	Strong transcription	Primary B cells from peripheral blood	blood
19	chr19:53075600-53085600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
20	chr19:53075600-53087000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr19:53075600-53087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:53075800-53082000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:53075800-53082400	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:53075800-53082400	Strong transcription	Left Ventricle	heart
25	chr19:53075800-53082400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:53075800-53085000	Strong transcription	Fetal Stomach	stomach
27	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:53075800-53085600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr19:53075800-53087400	Strong transcription	Osteobl	bone
30	chr19:53075800-53088000	Strong transcription	Rectal Smooth Muscle	rectum
31	chr19:53076000-53082000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr19:53076000-53082200	Strong transcription	Adipose Nuclei	Adipose
33	chr19:53076400-53096000	Strong transcription	Dnd41	blood
34	chr19:53077000-53082400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:53077600-53088000	Strong transcription	Fetal Brain Female	brain
36	chr19:53077800-53082800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr19:53079000-53082600	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:53079000-53083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:53079200-53082000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr19:53079200-53082000	Strong transcription	Brain Substantia Nigra	brain
41	chr19:53079200-53082400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr19:53079200-53086400	Strong transcription	Ovary	ovary
43	chr19:53079200-53087400	Strong transcription	Brain Anterior Caudate	brain
44	chr19:53079200-53087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:53079200-53092200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:53079400-53082000	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr19:53079400-53082000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
48	chr19:53079400-53082200	Strong transcription	Pancreas	Pancrea
49	chr19:53079400-53082400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:53079400-53082400	Strong transcription	Placenta Amnion	Placenta Amnion

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