Variant report

Variant	nsv579600
Chromosome Location	chr19:41680341-41680840
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41678854..41681708-chr19:41768595..41770762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105323	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566355606	chr19:41680357-41680358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142414905	chr19:41680367-41680368	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs540686929	chr19:41680379-41680380	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73931437	chr19:41680380-41680381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs305954	chr19:41680424-41680425	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs76771094	chr19:41680435-41680436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556134550	chr19:41680439-41680440	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577630474	chr19:41680459-41680460	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77149513	chr19:41680469-41680470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78215036	chr19:41680491-41680492	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573512819	chr19:41680495-41680496	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368563669	chr19:41680525-41680526	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs149452821	chr19:41680534-41680535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71358970	chr19:41680543-41680544	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs372263094	chr19:41680545-41680546	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56342775	chr19:41680549-41680550	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs2569690	chr19:41680552-41680553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28649877	chr19:41680555-41680556	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs147791653	chr19:41680561-41680562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148132950	chr19:41680564-41680565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs28373693	chr19:41680567-41680568	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs62119620	chr19:41680570-41680571	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62119621	chr19:41680573-41680574	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62119622	chr19:41680576-41680577	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192140914	chr19:41680607-41680608	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs79980687	chr19:41680610-41680611	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373545186	chr19:41680612-41680613	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs36191975	chr19:41680651-41680652	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs147680449	chr19:41680752-41680753	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs200065572	chr19:41680755-41680756	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs566265165	chr19:41680835-41680836	Weak transcription Enhancers Active TSS Flanking Active TSS	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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41666000-41681800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:41672000-41680800	Weak transcription	Hela-S3	cervix
3	chr19:41677600-41681600	Enhancers	Fetal Intestine Large	intestine
4	chr19:41678000-41680600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:41678400-41680800	Enhancers	A549	lung
6	chr19:41678400-41681800	Enhancers	Duodenum Mucosa	Duodenum
7	chr19:41678800-41680600	Weak transcription	Fetal Stomach	stomach
8	chr19:41678800-41681600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr19:41678800-41681600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:41679000-41681400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:41679000-41681800	Enhancers	Placenta	Placenta
12	chr19:41679200-41680600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:41679200-41680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:41679200-41680600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:41679200-41681200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr19:41679200-41681200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:41679200-41681800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr19:41679200-41681800	Enhancers	Fetal Intestine Small	intestine
19	chr19:41679400-41680600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr19:41679400-41681600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:41679400-41681600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:41679400-41681800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr19:41679600-41680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr19:41679800-41680600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr19:41679800-41680800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr19:41679800-41681600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:41680000-41680600	Enhancers	HepG2	liver
28	chr19:41680000-41680600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr19:41680000-41680800	Enhancers	Colonic Mucosa	Colon
30	chr19:41680200-41680400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr19:41680200-41680600	Enhancers	Gastric	stomach
32	chr19:41680200-41681000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr19:41680200-41681000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr19:41680200-41681000	Enhancers	Lung	lung
35	chr19:41680200-41681800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:41680200-41682800	Enhancers	Stomach Mucosa	stomach
37	chr19:41680400-41682400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr19:41680600-41680800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr19:41680600-41680800	Flanking Active TSS	Gastric	stomach
40	chr19:41680600-41680800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr19:41680600-41681000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr19:41680600-41681200	Active TSS	Fetal Stomach	stomach
43	chr19:41680600-41681400	Flanking Active TSS	HepG2	liver
44	chr19:41680600-41681600	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr19:41680600-41681800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:41680600-41681800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr19:41680600-41682800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr19:41680600-41683000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr19:41680800-41681000	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr19:41680800-41681000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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