Variant report

Variant	nsv521828
Chromosome Location	chr19:53232293-53233273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:183)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:53233027-53233245	K562	blood:	n/a	n/a
2	CEBPB	chr19:53232623-53232823	IMR90	lung:	n/a	n/a
3	CEBPB	chr19:53232598-53232808	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr19:53232571-53232835	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr19:53232594-53232629	GM13976	blood:	n/a	n/a
6	JUND	chr19:53233068-53233198	K562	blood:	n/a	chr19:53233178-53233187
7	MAFK	chr19:53233077-53233248	K562	blood:	n/a	n/a
8	TBL1XR1	chr19:53233080-53233089	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:53233164-53233214	HRE	kidney:	n/a
2	chr19:53233083-53233133	HMEC	breast:	n/a
3	chr19:53233245-53233295	AG09319	gingival:	n/a
4	chr19:53233083-53233133	ovcar-3	ovarian:	n/a
5	chr19:53233245-53233295	SKMC	muscle:	n/a
6	chr19:53233164-53233214	HEEpiC	esophagus:	n/a
7	chr19:53233083-53233133	K562	blood:	n/a
8	chr19:53233245-53233295	HCF	heart:	n/a
9	chr19:53233245-53233295	AoSMC	blood vessel:	n/a
10	chr19:53233083-53233133	LNCaP	prostate:	n/a
11	chr19:53233245-53233295	SK-N-SH	brain:	n/a
12	chr19:53233083-53233133	A549	lung:	n/a
13	chr19:53233164-53233214	SK-N-MC	brain:	n/a
14	chr19:53233245-53233295	HRE	kidney:	n/a
15	chr19:53233083-53233133	NH-A	brain:	n/a
16	chr19:53233164-53233214	HMEC	breast:	n/a
17	chr19:53233164-53233214	HUVEC	blood vessel:	n/a
18	chr19:53233164-53233214	MCF10A-Er-Src	breast:	n/a
19	chr19:53233083-53233133	PrEC	prostate:	n/a
20	chr19:53233245-53233295	GM12878	blood:	n/a
21	chr19:53233083-53233133	GM12892	blood:	n/a
22	chr19:53233083-53233133	AG09309	skin:	n/a
23	chr19:53233083-53233133	GM12891	blood:	n/a
24	chr19:53233245-53233295	SK-N-MC	brain:	n/a
25	chr19:53233245-53233295	U87	brain:	n/a
26	chr19:53233083-53233133	HPAEpiC	pulmonary alveolar:	n/a
27	chr19:53233245-53233295	HNPCEpiC	eye:	n/a
28	chr19:53233164-53233214	AG10803	skin:	n/a
29	chr19:53233245-53233295	GM06990	blood:	n/a
30	chr19:53233245-53233295	HUVEC	blood vessel:	n/a
31	chr19:53233245-53233295	LNCaP	prostate:	n/a
32	chr19:53233083-53233133	MCF10A-Er-Src	breast:	n/a
33	chr19:53233083-53233133	HEK293	kidney:	embryo
34	chr19:53233245-53233295	AG04449	skin:	fetal
35	chr19:53233245-53233295	Jurkat	blood:	n/a
36	chr19:53233164-53233214	AG09319	gingival:	n/a
37	chr19:53233245-53233295	H1-hESC	embryonic stem cell:	embryo
38	chr19:53233164-53233214	GM12891	blood:	n/a
39	chr19:53233245-53233295	HepG2	liver:	n/a
40	chr19:53233245-53233295	GM12891	blood:	n/a
41	chr19:53233083-53233133	HRE	kidney:	n/a
42	chr19:53233245-53233295	HPAEpiC	pulmonary alveolar:	n/a
43	chr19:53233245-53233295	HL-60	blood:	n/a
44	chr19:53233164-53233214	K562	blood:	n/a
45	chr19:53233245-53233295	PrEC	prostate:	n/a
46	chr19:53233245-53233295	IMR90	lung:	fetal
47	chr19:53233164-53233214	Caco-2	colon:	n/a
48	chr19:53233083-53233133	NB4	blood:	n/a
49	chr19:53233245-53233295	HAEpiC	amniotic membrane:	n/a
50	chr19:53233245-53233295	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53226674..53228672-chr19:53232730..53234940,2	K562	blood:
2	chr19:53233250..53234773-chr19:53236233..53238057,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF83-5	chr19:53233159-53233258	NONHSAT067580
2	lnc-ZNF83-5	chr19:53233159-53233258	NONHSAT067579

No data

Variant related genes	Relation type
ZNF611	TF binding region
ZNF611	CpG island
ENSG00000213020	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 66 )

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	rs10853855	chr19:53232293-53232294	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546740793	chr19:53232308-53232309	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11669363	chr19:53232321-53232322	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112421547	chr19:53232326-53232327	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182834785	chr19:53232340-53232341	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535347697	chr19:53232344-53232345	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548267596	chr19:53232427-53232428	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542041467	chr19:53232432-53232433	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560104451	chr19:53232442-53232443	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs7259713	chr19:53232477-53232478	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148583989	chr19:53232484-53232485	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143000908	chr19:53232504-53232505	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532588761	chr19:53232565-53232566	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73934873	chr19:53232588-53232589	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571936331	chr19:53232620-53232621	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs530314771	chr19:53232681-53232682	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs187261716	chr19:53232742-53232743	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs397859789	chr19:53232746-53232747	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12985149	chr19:53232771-53232772	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs377126196	chr19:53232772-53232773	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs151031465	chr19:53232776-53232777	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373840163	chr19:53232777-53232778	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs376889818	chr19:53232781-53232782	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs369825363	chr19:53232787-53232788	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs372147485	chr19:53232843-53232844	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs1971063	chr19:53232854-53232855	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534357705	chr19:53232875-53232876	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558240284	chr19:53232901-53232902	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570204258	chr19:53232935-53232936	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs7248024	chr19:53232979-53232980	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs191776430	chr19:53233009-53233010	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112519392	chr19:53233027-53233028	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541779176	chr19:53233060-53233061	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544780545	chr19:53233068-53233069	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs553983846	chr19:53233071-53233072	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs183072398	chr19:53233075-53233076	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs187621852	chr19:53233083-53233084	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs116153760	chr19:53233108-53233109	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs544423540	chr19:53233166-53233167	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
40	rs192690378	chr19:53233172-53233173	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
41	rs544654840	chr19:53233173-53233174	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
42	rs185739010	chr19:53233174-53233175	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
43	rs1971064	chr19:53233196-53233197	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548605855	chr19:53233210-53233211	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
45	rs4802987	chr19:53233273-53233274	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53210400-53236600	Weak transcription	Psoas Muscle	Psoas
2	chr19:53210600-53237200	Weak transcription	NHDF-Ad	bronchial
3	chr19:53214800-53237200	Weak transcription	Stomach Mucosa	stomach
4	chr19:53215800-53237000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:53216800-53236600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr19:53221000-53237400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:53224000-53232400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:53225000-53236800	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:53225200-53232400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr19:53225200-53236600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:53225200-53237000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:53225200-53237200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:53225200-53237200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:53225400-53233400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr19:53225400-53236600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr19:53225400-53237200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:53226000-53232800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:53226200-53237200	Weak transcription	HUVEC	blood vessel
19	chr19:53226200-53237200	Weak transcription	Osteobl	bone
20	chr19:53226400-53237200	Weak transcription	HMEC	breast
21	chr19:53226600-53233200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr19:53226800-53232400	Strong transcription	Brain Anterior Caudate	brain
23	chr19:53226800-53235200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr19:53227000-53232600	Strong transcription	Dnd41	blood
25	chr19:53227000-53232800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr19:53227000-53232800	Strong transcription	Duodenum Mucosa	Duodenum
27	chr19:53227000-53232800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr19:53228000-53236400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr19:53228200-53232400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr19:53228400-53232600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:53228400-53237400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:53228800-53232600	ZNF genes & repeats	GM12878-XiMat	blood
33	chr19:53228800-53236600	Weak transcription	Fetal Heart	heart
34	chr19:53229000-53232400	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr19:53229000-53232400	Weak transcription	HepG2	liver
36	chr19:53229000-53236800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:53229000-53237000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:53229000-53237200	Weak transcription	NH-A	brain
39	chr19:53229200-53232400	Strong transcription	Fetal Stomach	stomach
40	chr19:53229400-53233200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:53229400-53236600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr19:53229400-53237200	Weak transcription	Aorta	Aorta
43	chr19:53229600-53236600	Weak transcription	Esophagus	oesophagus
44	chr19:53229600-53236600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:53229600-53236600	Weak transcription	K562	blood
46	chr19:53229800-53232600	Strong transcription	Adipose Nuclei	Adipose
47	chr19:53230000-53232400	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr19:53230000-53232400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr19:53230000-53232600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr19:53230000-53233200	Strong transcription	Primary B cells from cord blood	blood

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