Variant report

Variant	nsv526711
Chromosome Location	chr19:39533754-39538592
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39531425..39533053-chr19:39537325..39539768,2	MCF-7	breast:
2	chr19:39521423..39523663-chr19:39535001..39537936,2	MCF-7	breast:
3	chr19:39521025..39525658-chr19:39535006..39538345,5	MCF-7	breast:
4	chr19:39528736..39531074-chr19:39534796..39537090,2	K562	blood:
5	chr19:39536592..39538414-chr19:39541757..39543284,2	MCF-7	breast:
6	chr19:39527434..39530385-chr19:39532161..39533802,2	K562	blood:
7	chr19:39519101..39521598-chr19:39532998..39534703,2	K562	blood:
8	chr19:39522295..39523922-chr19:39537003..39539265,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161243	chromatin interactions
ENSG00000267992	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs473878	chr19:39533754-39533755	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs601966	chr19:39533819-39533820	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs570738477	chr19:39533852-39533853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528680803	chr19:39533927-39533928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559642308	chr19:39533935-39533936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs472104	chr19:39533937-39533938	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs541897021	chr19:39533983-39533984	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541830399	chr19:39534020-39534021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs602899	chr19:39534031-39534032	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs603268	chr19:39534076-39534077	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs376956920	chr19:39534159-39534160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557118962	chr19:39534193-39534194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190692784	chr19:39534208-39534209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs60908804	chr19:39534242-39534243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs140468131	chr19:39534419-39534420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs558916226	chr19:39534424-39534425	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144552540	chr19:39534477-39534478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs569394659	chr19:39534482-39534483	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs374249083	chr19:39534533-39534534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs553085912	chr19:39534572-39534573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs536452881	chr19:39534576-39534577	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574496108	chr19:39534620-39534621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371111032	chr19:39534644-39534645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541898778	chr19:39534653-39534654	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563171834	chr19:39534659-39534660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs530502511	chr19:39534667-39534668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545365522	chr19:39534674-39534675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs7248416	chr19:39534708-39534709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs528717513	chr19:39534709-39534710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554932	chr19:39534714-39534715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs568633237	chr19:39534726-39534727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540558924	chr19:39534731-39534732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558507873	chr19:39534732-39534733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551034346	chr19:39534779-39534780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs117869534	chr19:39534810-39534811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372300586	chr19:39534811-39534812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539858889	chr19:39534816-39534817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553330	chr19:39534843-39534844	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs182382833	chr19:39534852-39534853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144873030	chr19:39534854-39534855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552933579	chr19:39534889-39534890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs617085	chr19:39534891-39534892	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs372511682	chr19:39534910-39534911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541589189	chr19:39534916-39534917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186607678	chr19:39534927-39534928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201871219	chr19:39534940-39534941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73038198	chr19:39534941-39534942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199632570	chr19:39534949-39534950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574958788	chr19:39534951-39534952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs56214332	chr19:39534954-39534955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Pleomorphic liposarcoma	18784837	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
Disorders of sex development	21048976	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
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39523400-39535400	Weak transcription	Right Atrium	heart
2	chr19:39530800-39543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:39535400-39538800	Enhancers	Fetal Intestine Large	intestine
4	chr19:39535400-39538800	Enhancers	Fetal Intestine Small	intestine
5	chr19:39535800-39538800	Enhancers	Duodenum Mucosa	Duodenum
6	chr19:39536200-39536400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr19:39536200-39536400	Active TSS	HepG2	liver
8	chr19:39536200-39536400	Enhancers	K562	blood
9	chr19:39536200-39536600	Enhancers	A549	lung
10	chr19:39536400-39536600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr19:39536400-39536800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr19:39536400-39536800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:39536400-39536800	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr19:39536400-39537200	Enhancers	Placenta	Placenta
15	chr19:39536400-39537200	Enhancers	Hela-S3	cervix
16	chr19:39536400-39537400	Flanking Active TSS	K562	blood
17	chr19:39536400-39538200	Enhancers	Stomach Mucosa	stomach
18	chr19:39536600-39536800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr19:39536600-39537000	Flanking Active TSS	A549	lung
20	chr19:39536600-39537400	Enhancers	GM12878-XiMat	blood
21	chr19:39536600-39537600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr19:39536800-39537000	Bivalent Enhancer	HepG2	liver
23	chr19:39536800-39537200	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr19:39536800-39537400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr19:39537000-39537200	Enhancers	HepG2	liver
26	chr19:39537000-39537600	Enhancers	A549	lung
27	chr19:39537200-39541800	Weak transcription	HepG2	liver
28	chr19:39537400-39538600	Enhancers	K562	blood
29	chr19:39537600-39543000	Weak transcription	A549	lung

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