Variant report

Variant	nsv963043
Chromosome Location	chr19:37384319-37394843
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr19:37385858-37386267	U2OS	brain:	n/a	n/a
2	KAP1	chr19:37385865-37386290	HEK293	kidney:	n/a	n/a
3	KAP1	chr19:37389340-37389621	U2OS	brain:	n/a	n/a
4	POLR2A	chr19:37389442-37389550	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr19:37392655-37392775	A549	lung:	n/a	n/a
6	POLR2A	chr19:37388938-37388958	A549	lung:	n/a	n/a
7	POLR2A	chr19:37384914-37385107	A549	lung:	n/a	n/a
8	SETDB1	chr19:37389267-37389665	U2OS	brain:	n/a	n/a
9	SETDB1	chr19:37385764-37386391	U2OS	brain:	n/a	n/a
10	SETDB1	chr19:37385241-37385441	U2OS	brain:	n/a	n/a
11	STAT3	chr19:37385698-37385898	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37368925..37371871-chr19:37383138..37385642,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF345-4	chr19:37389239-37389247	l_1678_chr19:37389066-37399110_whiteBloodCell
2	lnc-ZNF345-4	chr19:37389067-37389188	l_1678_chr19:37389066-37399110_whiteBloodCell

No data

Variant related genes	Relation type
RPL31P61	TF binding region

Extended variants
information (count: 390 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:390 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537258024	chr19:37384321-37384322	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs556177589	chr19:37384336-37384337	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577861836	chr19:37384375-37384376	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545014966	chr19:37384446-37384447	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181018144	chr19:37384465-37384466	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs148628856	chr19:37384466-37384467	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370791616	chr19:37384482-37384483	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185902869	chr19:37384528-37384529	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112581312	chr19:37384584-37384585	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151076995	chr19:37384625-37384626	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141346154	chr19:37384663-37384664	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145181435	chr19:37384679-37384680	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10426229	chr19:37384777-37384778	ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs551468488	chr19:37384784-37384785	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs77122922	chr19:37384797-37384798	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532509994	chr19:37384809-37384810	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572748292	chr19:37384867-37384868	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547370646	chr19:37384874-37384875	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189725751	chr19:37385039-37385040	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530052553	chr19:37385057-37385058	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569532019	chr19:37385071-37385072	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117439107	chr19:37385083-37385084	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181348508	chr19:37385166-37385167	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11879215	chr19:37385188-37385189	ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185522752	chr19:37385207-37385208	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146872018	chr19:37385277-37385278	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs571350301	chr19:37385290-37385291	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555695840	chr19:37385300-37385301	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538769536	chr19:37385335-37385336	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190679256	chr19:37385363-37385364	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140534611	chr19:37385375-37385376	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542264013	chr19:37385427-37385428	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554799701	chr19:37385438-37385439	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576305515	chr19:37385594-37385595	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183403546	chr19:37385612-37385613	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112525668	chr19:37385641-37385642	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150394354	chr19:37385707-37385708	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567605847	chr19:37385718-37385719	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534923630	chr19:37385775-37385776	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189163729	chr19:37385914-37385915	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559431092	chr19:37385974-37385975	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191910822	chr19:37385982-37385983	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367706114	chr19:37386005-37386006	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564001825	chr19:37386063-37386064	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531147019	chr19:37386078-37386079	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200562195	chr19:37386083-37386084	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552784841	chr19:37386090-37386091	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57821615	chr19:37386176-37386177	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183912996	chr19:37386187-37386188	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117157045	chr19:37386198-37386199	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD

Chromatin state (count:408 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37344400-37406400	ZNF genes & repeats	Liver	Liver
2	chr19:37346400-37404600	ZNF genes & repeats	Adipose Nuclei	Adipose
3	chr19:37353400-37405000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37373800-37403400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr19:37374000-37400400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr19:37374000-37405400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:37374200-37390400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
8	chr19:37374200-37404200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:37374400-37395000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:37374400-37395800	ZNF genes & repeats	Brain Germinal Matrix	brain
11	chr19:37374400-37400400	ZNF genes & repeats	Fetal Brain Female	brain
12	chr19:37374400-37406400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:37374600-37400400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr19:37375000-37386600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
15	chr19:37375000-37397200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:37375200-37390200	ZNF genes & repeats	Brain Hippocampus Middle	brain
17	chr19:37375200-37390600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
18	chr19:37375200-37393400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr19:37378000-37390000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:37379200-37386400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
21	chr19:37379200-37390200	ZNF genes & repeats	Fetal Brain Male	brain
22	chr19:37379400-37390200	ZNF genes & repeats	Brain Anterior Caudate	brain
23	chr19:37379400-37390200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr19:37379400-37390400	ZNF genes & repeats	Fetal Lung	lung
25	chr19:37379400-37400400	ZNF genes & repeats	Primary T cells from cord blood	blood
26	chr19:37379600-37386400	ZNF genes & repeats	Aorta	Aorta
27	chr19:37379600-37390200	ZNF genes & repeats	Brain Substantia Nigra	brain
28	chr19:37379600-37392800	ZNF genes & repeats	Fetal Muscle Trunk	muscle
29	chr19:37379600-37399600	ZNF genes & repeats	Ovary	ovary
30	chr19:37379800-37390200	ZNF genes & repeats	Colon Smooth Muscle	Colon
31	chr19:37379800-37390400	ZNF genes & repeats	Brain Angular Gyrus	brain
32	chr19:37380000-37385400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
33	chr19:37380000-37386400	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
34	chr19:37380000-37386400	ZNF genes & repeats	Fetal Kidney	kidney
35	chr19:37380000-37390400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:37380000-37399800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr19:37380200-37390200	ZNF genes & repeats	Dnd41	blood
38	chr19:37380200-37396800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
39	chr19:37380400-37386400	ZNF genes & repeats	HSMM	muscle
40	chr19:37380400-37386600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr19:37380400-37386600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:37380400-37390400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
43	chr19:37380400-37405000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:37380600-37385000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr19:37380600-37386000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:37380600-37386400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:37380600-37387400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:37380600-37389000	ZNF genes & repeats	Psoas Muscle	Psoas
49	chr19:37380600-37390000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
50	chr19:37380600-37390400	ZNF genes & repeats	Primary B cells from cord blood	blood

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