Variant report

Variant	nsv9745
Chromosome Location	chr19:53476979-53482972
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:53481937-53481985	Kidney_OC	kidney:	n/a	n/a
2	MYC	chr19:53481732-53481741	MCF-7	breast:	n/a	n/a
3	MYC	chr19:53481743-53481763	MCF-7	breast:	n/a	n/a
4	POLR2A	chr19:53480219-53480459	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr19:53478017-53478072	HUVEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:53478537..53481849-chr19:53482363..53484640,3	K562	blood:
2	chr19:53478537..53481849-chr19:53482363..53484640,3	K562	blood:
3	chr19:53482347..53484833-chr19:53488292..53490832,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF816-2	chr19:53478626-53479053	NONHSAT067611
2	lnc-ZNF816-2	chr19:53482153-53482206	NONHSAT067613
3	lnc-ZNF816-2	chr19:53477295-53477406	NONHSAT067610
4	lnc-ZNF816-2	chr19:53482046-53482206	NONHSAT067612

No data

Variant related genes	Relation type
ZNF702P	TF binding region
ENSG00000242779	chromatin interactions

Extended variants
information (count: 294 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:294 , 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	rs564175550	chr19:53476985-53476986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531588838	chr19:53477005-53477006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543364301	chr19:53477018-53477019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs16984219	chr19:53477095-53477096	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs116701936	chr19:53477100-53477101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547447594	chr19:53477127-53477128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386810621	chr19:53477145-53477146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142557185	chr19:53477147-53477148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188647884	chr19:53477174-53477175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527676405	chr19:53477183-53477184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs386810622	chr19:53477275-53477276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533104490	chr19:53477288-53477289	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552756410	chr19:53477293-53477294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570964430	chr19:53477302-53477303	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs552424671	chr19:53477374-53477375	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs150958922	chr19:53477381-53477382	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs181177581	chr19:53477388-53477389	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs183754345	chr19:53477395-53477396	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs140371635	chr19:53477420-53477421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs199519259	chr19:53477423-53477424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs535441758	chr19:53477438-53477439	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs564580928	chr19:53477480-53477481	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs553792043	chr19:53477566-53477567	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs572205896	chr19:53477605-53477606	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545897778	chr19:53477606-53477607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs571401258	chr19:53477607-53477608	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189479015	chr19:53477643-53477644	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs576175601	chr19:53477670-53477671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs527935147	chr19:53477673-53477674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs569053847	chr19:53477687-53477688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs141022995	chr19:53477688-53477689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs150250070	chr19:53477693-53477694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs541022782	chr19:53477726-53477727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs375913014	chr19:53477731-53477732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34246667	chr19:53477732-53477733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370872215	chr19:53477735-53477736	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551202296	chr19:53477751-53477752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570997247	chr19:53477757-53477758	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7253472	chr19:53477782-53477783	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs368797153	chr19:53477805-53477806	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs180772219	chr19:53477821-53477822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs35750890	chr19:53477823-53477824	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs377473136	chr19:53477829-53477830	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370648382	chr19:53477834-53477835	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs7256353	chr19:53477839-53477840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs7256358	chr19:53477844-53477845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs7256362	chr19:53477854-53477855	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs7257419	chr19:53477877-53477878	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs7256379	chr19:53477893-53477894	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7256498	chr19:53477918-53477919	Weak transcription ZNF genes & repeats	n/a	n/a	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:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53467000-53479000	Weak transcription	Brain Substantia Nigra	brain
2	chr19:53467000-53489000	Weak transcription	Right Ventricle	heart
3	chr19:53467000-53494600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:53467200-53478800	Weak transcription	Thymus	Thymus
5	chr19:53467200-53480000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr19:53467200-53488600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:53467200-53489200	Weak transcription	Colon Smooth Muscle	Colon
8	chr19:53467200-53495400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:53467400-53481800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:53471000-53481600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:53471200-53481200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr19:53471600-53487600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:53472200-53478000	Weak transcription	Right Atrium	heart
14	chr19:53472600-53489000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:53472800-53478000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr19:53472800-53478000	Weak transcription	Aorta	Aorta
17	chr19:53472800-53481600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:53472800-53481600	Weak transcription	Gastric	stomach
19	chr19:53472800-53487800	Weak transcription	Adipose Nuclei	Adipose
20	chr19:53472800-53495800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:53473000-53488000	Weak transcription	K562	blood
22	chr19:53473000-53488600	Weak transcription	Colonic Mucosa	Colon
23	chr19:53473000-53489400	Weak transcription	Brain Anterior Caudate	brain
24	chr19:53473600-53488600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:53473600-53495800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr19:53473800-53487800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:53474000-53477200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr19:53474000-53488200	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr19:53474000-53488800	Weak transcription	Fetal Kidney	kidney
30	chr19:53474000-53495800	Weak transcription	Fetal Lung	lung
31	chr19:53474200-53478800	Weak transcription	Ovary	ovary
32	chr19:53474200-53479800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr19:53474200-53481600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:53474200-53488000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:53474200-53488000	Weak transcription	HUVEC	blood vessel
36	chr19:53474800-53481600	Weak transcription	Left Ventricle	heart
37	chr19:53475000-53477400	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:53475000-53478200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:53475200-53479400	Weak transcription	Placenta	Placenta
40	chr19:53475400-53478000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:53475400-53481600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr19:53475600-53478600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr19:53476200-53478200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:53476400-53477400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:53476600-53477200	Strong transcription	Fetal Stomach	stomach
46	chr19:53477200-53481000	Weak transcription	Fetal Stomach	stomach
47	chr19:53477400-53478400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr19:53477400-53481600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr19:53477600-53480000	Weak transcription	Pancreas	Pancrea
50	chr19:53478000-53479000	Strong transcription	Aorta	Aorta

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