Variant report

Variant	nsv978844
Chromosome Location	chr19:53589229-53590157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:53590040-53590190	HCPEpiC	choroid plexus:	n/a	chr19:53590139-53590152
2	GATA2	chr19:53590106-53590732	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr19:53589226-53589263	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:53588995-53589448	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:53589838-53589851	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr19:53589206-53589257	ProgFib	skin:	n/a	n/a
7	POLR2A	chr19:53589835-53589836	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53588688..53591621-chr19:53593968..53598410,4	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF415-2	chr19:53589062-53589362	NONHSAT067624
2	lnc-ZNF415-2	chr19:53589515-53589574	NONHSAT067624

No data

Variant related genes	Relation type
ZNF160	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188459238	chr19:53589231-53589232	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs143778094	chr19:53589269-53589270	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs577791700	chr19:53589296-53589297	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs544941857	chr19:53589332-53589333	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs115919526	chr19:53589351-53589352	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs574874528	chr19:53589368-53589369	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs191154774	chr19:53589394-53589395	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs560642532	chr19:53589415-53589416	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs528136880	chr19:53589427-53589428	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145834779	chr19:53589432-53589433	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs371670038	chr19:53589434-53589435	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs533586427	chr19:53589459-53589460	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375151556	chr19:53589473-53589474	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369553618	chr19:53589490-53589491	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372137290	chr19:53589536-53589537	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs149005882	chr19:53589545-53589546	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs549439237	chr19:53589588-53589589	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376582975	chr19:53589617-53589618	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536692225	chr19:53589637-53589638	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537604172	chr19:53589661-53589662	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs141182559	chr19:53589662-53589663	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs329718	chr19:53589677-53589678	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs143820395	chr19:53589700-53589701	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183121240	chr19:53589702-53589703	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556975969	chr19:53589713-53589714	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76333691	chr19:53589725-53589726	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186796084	chr19:53589743-53589744	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80313548	chr19:53589756-53589757	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs329717	chr19:53589798-53589799	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs539911792	chr19:53589805-53589806	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565023799	chr19:53589808-53589809	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs199936810	chr19:53589814-53589815	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370151425	chr19:53589823-53589824	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544167970	chr19:53589824-53589825	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578093214	chr19:53589843-53589844	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs532015524	chr19:53589853-53589854	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545630354	chr19:53589869-53589870	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561733149	chr19:53589888-53589889	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531189043	chr19:53589974-53589975	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs34650344	chr19:53590025-53590026	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148075976	chr19:53590054-53590055	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs140942671	chr19:53590078-53590079	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs75326872	chr19:53590124-53590125	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs546757207	chr19:53590127-53590128	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs571762279	chr19:53590131-53590132	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding 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
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53570600-53589600	ZNF genes & repeats	GM12878-XiMat	blood
2	chr19:53573600-53604800	Weak transcription	Hela-S3	cervix
3	chr19:53574800-53599600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:53575600-53598600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:53575600-53601000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:53576800-53605200	Weak transcription	Stomach Mucosa	stomach
7	chr19:53578800-53593400	Weak transcription	HepG2	liver
8	chr19:53580600-53597800	Weak transcription	Fetal Heart	heart
9	chr19:53581000-53591200	Strong transcription	Fetal Intestine Large	intestine
10	chr19:53584000-53599000	Strong transcription	Muscle Satellite Cultured Cells	--
11	chr19:53584200-53595000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr19:53584200-53595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:53584400-53595200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:53584400-53596400	Strong transcription	Fetal Brain Female	brain
15	chr19:53584400-53598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:53584600-53589600	Strong transcription	Fetal Muscle Trunk	muscle
17	chr19:53584600-53594600	Strong transcription	Stomach Smooth Muscle	stomach
18	chr19:53584600-53595000	Strong transcription	Brain Cingulate Gyrus	brain
19	chr19:53584600-53599400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr19:53584600-53599800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:53584800-53595400	Strong transcription	Brain Germinal Matrix	brain
22	chr19:53585000-53595200	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:53585000-53597000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr19:53585200-53589600	Strong transcription	Left Ventricle	heart
25	chr19:53585200-53590000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:53585200-53590000	Strong transcription	Brain Hippocampus Middle	brain
27	chr19:53585200-53590600	ZNF genes & repeats	Lung	lung
28	chr19:53585200-53596200	Strong transcription	Thymus	Thymus
29	chr19:53585200-53596400	Strong transcription	Dnd41	blood
30	chr19:53585200-53597800	Strong transcription	Placenta	Placenta
31	chr19:53585200-53599400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr19:53585200-53599600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr19:53585400-53589600	Strong transcription	A549	lung
34	chr19:53585400-53590000	Strong transcription	Osteobl	bone
35	chr19:53585400-53590600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr19:53585400-53594400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr19:53585400-53594400	Strong transcription	Primary B cells from cord blood	blood
38	chr19:53585400-53594400	Strong transcription	Fetal Lung	lung
39	chr19:53585400-53595200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr19:53585400-53595200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr19:53585400-53604800	Weak transcription	Psoas Muscle	Psoas
42	chr19:53585600-53590200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:53585600-53595200	Strong transcription	Brain Angular Gyrus	brain
44	chr19:53585600-53595200	Strong transcription	Gastric	stomach
45	chr19:53585600-53598800	Strong transcription	HSMMtube	muscle
46	chr19:53585600-53599000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:53585600-53599200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr19:53585800-53589800	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr19:53585800-53590200	Strong transcription	Fetal Muscle Leg	muscle
50	chr19:53585800-53591400	Strong transcription	Pancreas	Pancrea

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