Variant report

Variant	nsv960865
Chromosome Location	chr19:53625128-53626024
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:1)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53617497..53619438-chr19:53623367..53626154,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067634
2	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067633
3	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067636
4	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067632
5	lnc-ZNF347-2	chr19:53625915-53625996	NONHSAT067631
6	lnc-ZNF347-2	chr19:53625657-53625869	NONHSAT067635
7	lnc-ZNF347-2	chr19:53625657-53625865	NONHSAT067630

No data

Extended variants
information (count: 48 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:48 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74874225	chr19:53625143-53625144	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369036457	chr19:53625162-53625163	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs571376337	chr19:53625186-53625187	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538772816	chr19:53625196-53625197	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs557101029	chr19:53625199-53625200	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144691634	chr19:53625228-53625229	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs186000578	chr19:53625281-53625282	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs3786523	chr19:53625290-53625291	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs540206325	chr19:53625313-53625314	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs530661089	chr19:53625329-53625330	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs576999071	chr19:53625333-53625334	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs199633609	chr19:53625336-53625337	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs3786524	chr19:53625388-53625389	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190855011	chr19:53625396-53625397	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs575700808	chr19:53625397-53625398	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs34110457	chr19:53625398-53625399	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs369453712	chr19:53625418-53625419	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs367715364	chr19:53625423-53625424	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs148259098	chr19:53625456-53625457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs140371345	chr19:53625476-53625477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546564217	chr19:53625491-53625492	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564970742	chr19:53625493-53625494	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563318562	chr19:53625497-53625498	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs112994696	chr19:53625513-53625514	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs532627863	chr19:53625538-53625539	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs550752782	chr19:53625570-53625571	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs530379194	chr19:53625578-53625579	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs34974523	chr19:53625645-53625646	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536028414	chr19:53625647-53625648	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548389733	chr19:53625659-53625660	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs566752458	chr19:53625660-53625661	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs10414845	chr19:53625677-53625678	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs558579499	chr19:53625693-53625694	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs576960478	chr19:53625694-53625695	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs76084229	chr19:53625721-53625722	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs555943620	chr19:53625725-53625726	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs374160102	chr19:53625746-53625747	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs574489915	chr19:53625789-53625790	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs374946003	chr19:53625804-53625805	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs535700164	chr19:53625829-53625830	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs368108776	chr19:53625840-53625841	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs371542249	chr19:53625848-53625849	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs181955060	chr19:53625870-53625871	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs12462731	chr19:53625876-53625877	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs200785875	chr19:53625950-53625951	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs12462749	chr19:53625969-53625970	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186125990	chr19:53625971-53625972	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs539864313	chr19:53626003-53626004	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53607400-53630600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:53607600-53635000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:53612600-53634200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:53613000-53629600	Weak transcription	Fetal Heart	heart
5	chr19:53613000-53634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr19:53613000-53635400	Weak transcription	HSMMtube	muscle
7	chr19:53616000-53634600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:53616000-53635000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:53618400-53625600	Weak transcription	Gastric	stomach
10	chr19:53618600-53634400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr19:53618800-53627800	Weak transcription	Thymus	Thymus
12	chr19:53618800-53634000	Weak transcription	Pancreas	Pancrea
13	chr19:53619000-53625600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:53619000-53630600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr19:53619200-53625600	Weak transcription	Spleen	Spleen
16	chr19:53619400-53625800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr19:53619400-53627200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr19:53619400-53634400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:53619400-53634400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:53619600-53625600	Weak transcription	Placenta	Placenta
21	chr19:53619600-53625800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:53619600-53634600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr19:53619600-53634600	Weak transcription	Right Ventricle	heart
24	chr19:53619600-53634800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:53619800-53625600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr19:53619800-53625600	Weak transcription	Ovary	ovary
27	chr19:53620000-53625400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:53620000-53625600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:53620000-53625600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:53620000-53634000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:53620000-53634200	Weak transcription	Brain Angular Gyrus	brain
32	chr19:53620400-53634600	Weak transcription	Osteobl	bone
33	chr19:53620600-53625600	Weak transcription	Left Ventricle	heart
34	chr19:53620600-53626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr19:53620600-53634600	Weak transcription	Psoas Muscle	Psoas
36	chr19:53620600-53635200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:53620600-53635400	Weak transcription	Aorta	Aorta
38	chr19:53621200-53625200	Weak transcription	Fetal Muscle Leg	muscle
39	chr19:53621200-53625600	Weak transcription	Brain Anterior Caudate	brain
40	chr19:53621200-53628200	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr19:53621200-53634400	Weak transcription	Colon Smooth Muscle	Colon
42	chr19:53621200-53634800	Weak transcription	Fetal Kidney	kidney
43	chr19:53621400-53625600	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:53621400-53635000	Weak transcription	Primary B cells from cord blood	blood
45	chr19:53621400-53635000	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr19:53621600-53627800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:53621600-53633800	Weak transcription	Adipose Nuclei	Adipose
48	chr19:53621800-53634000	Weak transcription	Fetal Brain Male	brain
49	chr19:53621800-53634600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:53621800-53635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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