Variant report

Variant	esv3394228
Chromosome Location	chr19:52810905-52816835
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52810214..52812761-chr19:52813239..52815974,2	K562	blood:
2	chr19:52804812..52807578-chr19:52808701..52812079,3	MCF-7	breast:
3	chr19:52771868..52774315-chr19:52811814..52814643,2	K562	blood:
4	chr19:52805604..52808306-chr19:52809399..52811799,3	K562	blood:
5	chr19:52810214..52812761-chr19:52813239..52815974,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF836-4	chr19:52811920-52812006	ENSG00000269535.1

No data

Variant related genes	Relation type
ENSG00000196214	chromatin interactions

Extended variants
information (count: 253 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:253 , 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	rs200432209	chr19:52810919-52810920	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs386810452	chr19:52810920-52810921	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10549168	chr19:52810923-52810924	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577270912	chr19:52810925-52810926	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201780498	chr19:52810928-52810929	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139242458	chr19:52810931-52810932	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10406835	chr19:52810992-52810993	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182600239	chr19:52811012-52811013	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542522507	chr19:52811016-52811017	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560714256	chr19:52811035-52811036	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552518729	chr19:52811106-52811107	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528310404	chr19:52811153-52811154	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570438315	chr19:52811193-52811194	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546503963	chr19:52811205-52811206	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186998658	chr19:52811218-52811219	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375158076	chr19:52811254-52811255	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377470943	chr19:52811270-52811271	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190288750	chr19:52811290-52811291	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570065913	chr19:52811328-52811329	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537703155	chr19:52811342-52811343	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556114443	chr19:52811361-52811362	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181529533	chr19:52811378-52811379	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145548230	chr19:52811383-52811384	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553326259	chr19:52811385-52811386	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185789790	chr19:52811442-52811443	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73579038	chr19:52811471-52811472	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544824437	chr19:52811472-52811473	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78449793	chr19:52811514-52811515	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574909041	chr19:52811536-52811537	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542483943	chr19:52811537-52811538	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146136889	chr19:52811560-52811561	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56221635	chr19:52811577-52811578	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375637770	chr19:52811583-52811584	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535201300	chr19:52811591-52811592	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560826801	chr19:52811615-52811616	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs321911	chr19:52811620-52811621	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560393671	chr19:52811646-52811647	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573373405	chr19:52811684-52811685	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533415015	chr19:52811733-52811734	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11667008	chr19:52811787-52811788	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs570034361	chr19:52811839-52811840	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs530952470	chr19:52811840-52811841	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs34135909	chr19:52811849-52811850	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549428597	chr19:52811880-52811881	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs111511220	chr19:52811894-52811895	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs567934051	chr19:52811895-52811896	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565272207	chr19:52811913-52811914	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs527292728	chr19:52811936-52811937	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs148540215	chr19:52811937-52811938	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs142860828	chr19:52811947-52811948	ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	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
Adrenocortical carcinoma	18281524	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

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52801200-52813200	ZNF genes & repeats	A549	lung
2	chr19:52801800-52827200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:52801800-52829200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:52802000-52813200	ZNF genes & repeats	Primary B cells from cord blood	blood
5	chr19:52802000-52826400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr19:52802000-52830000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr19:52802200-52813000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
8	chr19:52802200-52827400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:52802200-52828400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:52802200-52829200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr19:52802400-52814000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr19:52802400-52828800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
13	chr19:52802400-52841800	ZNF genes & repeats	Liver	Liver
14	chr19:52802600-52826800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
15	chr19:52802600-52827600	ZNF genes & repeats	Dnd41	blood
16	chr19:52803200-52812400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:52803400-52813200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
18	chr19:52803800-52816200	ZNF genes & repeats	Small Intestine	intestine
19	chr19:52803800-52829000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr19:52803800-52829200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr19:52804000-52813000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr19:52804000-52814000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr19:52804400-52827200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr19:52805000-52819000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr19:52805200-52829000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
26	chr19:52805400-52813200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
27	chr19:52805400-52829200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:52805600-52813800	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr19:52805600-52827800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:52805800-52813800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
31	chr19:52806000-52813200	ZNF genes & repeats	Stomach Smooth Muscle	stomach
32	chr19:52806800-52813000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
33	chr19:52807000-52813200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr19:52807400-52813200	ZNF genes & repeats	Colon Smooth Muscle	Colon
35	chr19:52807400-52813600	ZNF genes & repeats	Lung	lung
36	chr19:52807400-52824400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
37	chr19:52807400-52824800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:52807800-52813600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:52807800-52814000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:52807800-52814000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
41	chr19:52807800-52816200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr19:52807800-52827000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr19:52808000-52812600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
44	chr19:52808000-52813200	ZNF genes & repeats	Spleen	Spleen
45	chr19:52808000-52813800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:52808000-52824200	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr19:52808200-52813800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr19:52808200-52813800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr19:52808200-52813800	ZNF genes & repeats	Fetal Brain Female	brain
50	chr19:52808200-52813800	ZNF genes & repeats	Rectal Smooth Muscle	rectum

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