Variant report

Variant	nsv961225
Chromosome Location	chr19:44512566-44513320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44506929..44508722-chr19:44508906..44512991,6	K562	blood:
2	chr19:44438985..44440520-chr19:44510451..44513064,2	MCF-7	breast:
3	chr19:44507958..44509681-chr19:44512685..44515018,2	K562	blood:
4	chr19:44505048..44507661-chr19:44511684..44514598,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124459	chromatin interactions
ENSG00000159882	chromatin interactions
ENSG00000266921	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140762460	chr19:44512567-44512568	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs550653981	chr19:44512597-44512598	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs564496702	chr19:44512602-44512603	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs427608	chr19:44512624-44512625	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs150118522	chr19:44512637-44512638	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs138546956	chr19:44512668-44512669	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs535445871	chr19:44512692-44512693	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs371063011	chr19:44512727-44512728	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs181130052	chr19:44512743-44512744	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537922336	chr19:44512753-44512754	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs373296261	chr19:44512756-44512757	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs558247531	chr19:44512855-44512856	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs11880006	chr19:44512865-44512866	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs149291895	chr19:44512868-44512869	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs8110147	chr19:44512869-44512870	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs370832238	chr19:44512882-44512883	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372420054	chr19:44512892-44512893	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs375934191	chr19:44512907-44512908	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs368483716	chr19:44512915-44512916	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs138118998	chr19:44512918-44512919	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs555016436	chr19:44512922-44512923	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs575220379	chr19:44512967-44512968	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs78640754	chr19:44512970-44512971	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs144108898	chr19:44512991-44512992	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs543939729	chr19:44513004-44513005	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564242815	chr19:44513014-44513015	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs533329297	chr19:44513031-44513032	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs200621855	chr19:44513060-44513061	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371582886	chr19:44513093-44513094	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs77165087	chr19:44513108-44513109	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs529495033	chr19:44513123-44513124	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs76081769	chr19:44513173-44513174	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369736552	chr19:44513191-44513192	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569122254	chr19:44513197-44513198	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373581518	chr19:44513226-44513227	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs531765046	chr19:44513229-44513230	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs542128366	chr19:44513239-44513240	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs111311736	chr19:44513250-44513251	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs74392537	chr19:44513257-44513258	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376516272	chr19:44513261-44513262	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs369737169	chr19:44513288-44513289	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs141481463	chr19:44513317-44513318	ZNF genes & repeats Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
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
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	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	chr19:44508200-44512800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:44508400-44512800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr19:44508400-44513000	Weak transcription	K562	blood
4	chr19:44508400-44513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr19:44508400-44513600	Weak transcription	Hela-S3	cervix
6	chr19:44508600-44512600	Weak transcription	NHDF-Ad	bronchial
7	chr19:44509200-44520600	ZNF genes & repeats	Liver	Liver
8	chr19:44509400-44516800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr19:44509400-44518200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:44509800-44516600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr19:44509800-44517000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr19:44509800-44517400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
13	chr19:44510000-44517000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:44510000-44517000	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:44510000-44517200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr19:44510000-44517400	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:44510200-44513000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr19:44510200-44516600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
19	chr19:44510200-44517000	ZNF genes & repeats	GM12878-XiMat	blood
20	chr19:44510200-44517400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr19:44510200-44517600	ZNF genes & repeats	Primary B cells from cord blood	blood
22	chr19:44510400-44516400	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:44510400-44517200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:44510400-44517600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:44510400-44517600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
26	chr19:44510600-44513200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr19:44510600-44513600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:44510600-44514400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:44510600-44516200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
30	chr19:44510600-44516600	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr19:44510600-44516600	ZNF genes & repeats	A549	lung
32	chr19:44510600-44517000	ZNF genes & repeats	Fetal Lung	lung
33	chr19:44510600-44517400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
34	chr19:44510600-44517600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
35	chr19:44510800-44512600	Strong transcription	Brain Hippocampus Middle	brain
36	chr19:44510800-44512800	Strong transcription	Rectal Smooth Muscle	rectum
37	chr19:44510800-44513600	Strong transcription	Osteobl	bone
38	chr19:44510800-44516400	ZNF genes & repeats	Dnd41	blood
39	chr19:44510800-44516600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
40	chr19:44510800-44516600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
41	chr19:44510800-44516600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
42	chr19:44510800-44516800	ZNF genes & repeats	Brain Substantia Nigra	brain
43	chr19:44510800-44517000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
44	chr19:44510800-44517200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr19:44510800-44517200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:44511000-44512600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr19:44511000-44512800	Strong transcription	Gastric	stomach
48	chr19:44511000-44513400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:44511000-44514200	Strong transcription	Brain Angular Gyrus	brain
50	chr19:44511000-44515400	ZNF genes & repeats	Aorta	Aorta

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