Variant report

Variant	nsv961228
Chromosome Location	chr19:44803007-44803904
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44803407..44806293-chr19:44806642..44810099,5	K562	blood:
2	chr19:44802318..44803982-chr19:44806130..44808963,2	MCF-7	breast:
3	chr19:44803134..44806293-chr19:44806524..44808794,3	K562	blood:
4	chr19:44801817..44803437-chr19:44808255..44810481,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159917	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144034114	chr19:44803054-44803055	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs375237263	chr19:44803059-44803060	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs35930036	chr19:44803061-44803062	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs148118027	chr19:44803068-44803069	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs16978912	chr19:44803078-44803079	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs376771033	chr19:44803089-44803090	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556839228	chr19:44803173-44803174	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs183238594	chr19:44803187-44803188	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542691395	chr19:44803253-44803254	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs4453617	chr19:44803274-44803275	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550023192	chr19:44803298-44803299	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141910658	chr19:44803304-44803305	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs146115707	chr19:44803306-44803307	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572488723	chr19:44803307-44803308	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs17713662	chr19:44803373-44803374	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114524338	chr19:44803374-44803375	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs575213779	chr19:44803427-44803428	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376860354	chr19:44803456-44803457	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187156927	chr19:44803458-44803459	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2609886	chr19:44803508-44803509	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs191915667	chr19:44803544-44803545	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547301345	chr19:44803554-44803555	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560502059	chr19:44803600-44803601	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529312132	chr19:44803605-44803606	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549075519	chr19:44803609-44803610	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs184164370	chr19:44803616-44803617	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs375532929	chr19:44803660-44803661	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537906295	chr19:44803663-44803664	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566203320	chr19:44803674-44803675	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111798495	chr19:44803683-44803684	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs57294656	chr19:44803694-44803695	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs57828930	chr19:44803697-44803698	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570303627	chr19:44803710-44803711	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368797001	chr19:44803711-44803712	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs73553293	chr19:44803718-44803719	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374840982	chr19:44803745-44803746	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143894131	chr19:44803750-44803751	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs200710204	chr19:44803765-44803766	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199667184	chr19:44803775-44803776	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs372859493	chr19:44803792-44803793	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546568547	chr19:44803800-44803801	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs575298687	chr19:44803804-44803805	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs374842884	chr19:44803821-44803822	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369843616	chr19:44803837-44803838	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs80182528	chr19:44803857-44803858	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377309908	chr19:44803885-44803886	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs202230673	chr19:44803897-44803898	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44777000-44807000	ZNF genes & repeats	Liver	Liver
2	chr19:44783200-44804400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr19:44790400-44806800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr19:44790400-44808400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:44791200-44806800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:44791400-44804600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:44792400-44807600	Weak transcription	HUVEC	blood vessel
8	chr19:44792800-44807600	Weak transcription	NH-A	brain
9	chr19:44792800-44808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:44794400-44806400	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr19:44794400-44806800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr19:44794600-44807600	Strong transcription	Primary B cells from cord blood	blood
13	chr19:44794800-44803600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr19:44796800-44806800	Strong transcription	Brain Germinal Matrix	brain
15	chr19:44798400-44807000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44798400-44807400	Strong transcription	Dnd41	blood
17	chr19:44798600-44806800	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:44798800-44804400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:44798800-44804400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:44799000-44804400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:44799000-44804600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr19:44799200-44805600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr19:44799200-44806800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr19:44799400-44804600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:44799400-44806800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr19:44799400-44806800	Strong transcription	Fetal Kidney	kidney
27	chr19:44799600-44803800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr19:44799600-44804400	Strong transcription	Fetal Brain Male	brain
29	chr19:44799600-44804600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:44799600-44806800	Strong transcription	Placenta	Placenta
31	chr19:44799600-44806800	Strong transcription	Stomach Smooth Muscle	stomach
32	chr19:44799600-44807600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr19:44799800-44803200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr19:44799800-44804400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr19:44799800-44804400	Strong transcription	HepG2	liver
36	chr19:44799800-44804600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr19:44799800-44807400	Weak transcription	K562	blood
38	chr19:44799800-44807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr19:44800000-44803800	Strong transcription	Placenta Amnion	Placenta Amnion
40	chr19:44800000-44806800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:44800000-44806800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:44800000-44806800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:44800200-44804400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr19:44800200-44806000	Strong transcription	A549	lung
45	chr19:44800200-44806200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:44800200-44806200	Strong transcription	Brain Hippocampus Middle	brain
47	chr19:44800200-44806200	Strong transcription	Rectal Smooth Muscle	rectum
48	chr19:44800200-44806400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr19:44800200-44806800	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr19:44800200-44806800	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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