Variant report

Variant	esv2094808
Chromosome Location	chr19:53116747-53117176
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:52406735..52408758-chr19:53114766..53117318,2	K562	blood:
2	chr19:53115970..53118193-chr19:53236786..53238588,2	K562	blood:
3	chr19:53115087..53117490-chr19:53126115..53129040,2	K562	blood:
4	chr19:53109944..53111454-chr19:53116244..53117812,2	K562	blood:

Variant related genes	Relation type
ENSG00000213020	chromatin interactions
ENSG00000198093	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139303117	chr19:53116748-53116749	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550822949	chr19:53116753-53116754	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs201638086	chr19:53116762-53116763	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs578014466	chr19:53116771-53116772	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7259639	chr19:53116783-53116784	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192432041	chr19:53116804-53116805	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs17855778	chr19:53116811-53116812	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200196513	chr19:53116813-53116814	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs373238202	chr19:53116821-53116822	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542960627	chr19:53116831-53116832	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs7248193	chr19:53116835-53116836	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7247359	chr19:53116855-53116856	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs199873537	chr19:53116856-53116857	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75685729	chr19:53116861-53116862	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs141749555	chr19:53116865-53116866	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs182979853	chr19:53116867-53116868	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs377329189	chr19:53116871-53116872	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7247257	chr19:53116885-53116886	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs7247258	chr19:53116888-53116889	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs143575530	chr19:53116892-53116893	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78207921	chr19:53116939-53116940	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs75857698	chr19:53116940-53116941	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556550175	chr19:53116948-53116949	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560464978	chr19:53116949-53116950	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs78562523	chr19:53116951-53116952	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs367946778	chr19:53116962-53116963	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146207784	chr19:53116964-53116965	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs7247690	chr19:53116969-53116970	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs7247691	chr19:53116972-53116973	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs201460258	chr19:53116975-53116976	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs201794892	chr19:53116976-53116977	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs200250390	chr19:53116979-53116980	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs542853549	chr19:53116986-53116987	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs201157018	chr19:53116988-53116989	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs557033862	chr19:53116990-53116991	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs575275768	chr19:53116994-53116995	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542573550	chr19:53116995-53116996	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs561268356	chr19:53116999-53117000	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs573424533	chr19:53117000-53117001	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199821089	chr19:53117002-53117003	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs140513277	chr19:53117006-53117007	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs144905073	chr19:53117007-53117008	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs7248435	chr19:53117017-53117018	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562525525	chr19:53117023-53117024	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs151121323	chr19:53117025-53117026	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs549588102	chr19:53117029-53117030	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs372157919	chr19:53117054-53117055	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs140701245	chr19:53117059-53117060	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs184914383	chr19:53117074-53117075	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs144646412	chr19:53117076-53117077	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53105200-53120200	Weak transcription	Aorta	Aorta
2	chr19:53105400-53121200	Weak transcription	Fetal Brain Male	brain
3	chr19:53105800-53117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:53105800-53129000	Weak transcription	Hela-S3	cervix
5	chr19:53107000-53136600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:53110600-53119400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr19:53112000-53117400	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr19:53112000-53131600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:53112400-53123400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr19:53112800-53123200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:53113000-53120000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr19:53113200-53119400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr19:53113200-53121600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:53113400-53119800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
15	chr19:53113400-53122000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
16	chr19:53113800-53123800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:53114200-53122200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:53114800-53117400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:53114800-53121600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:53115000-53117800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:53115000-53118000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
22	chr19:53115000-53121000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr19:53115000-53122000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:53115200-53120600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr19:53115200-53120800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
26	chr19:53115200-53121200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:53115200-53121600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
28	chr19:53115200-53122000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr19:53115400-53117800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:53115400-53119000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
31	chr19:53115400-53119800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:53115400-53120000	Strong transcription	Fetal Lung	lung
33	chr19:53115400-53120200	Strong transcription	Rectal Smooth Muscle	rectum
34	chr19:53115400-53120400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:53115400-53120600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:53115400-53120800	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:53115400-53120800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:53115400-53120800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
39	chr19:53115400-53121400	ZNF genes & repeats	Primary B cells from peripheral blood	blood
40	chr19:53115400-53121400	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr19:53115400-53121600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:53115400-53121600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr19:53115400-53121600	Strong transcription	Brain Germinal Matrix	brain
44	chr19:53115400-53122600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
45	chr19:53115400-53123800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:53115400-53123800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
47	chr19:53115400-53131800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:53115600-53117000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:53115600-53117000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr19:53115600-53117000	Weak transcription	Pancreas	Pancrea

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