Variant report

Variant	nsv963057
Chromosome Location	chr19:43858470-43864228
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	chr19:43857729..43859549-chr19:43967499..43969532,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000124466	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564609079	chr19:43858477-43858478	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs570518348	chr19:43858478-43858479	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs547213838	chr19:43858483-43858484	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371980619	chr19:43858505-43858506	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs375221290	chr19:43858538-43858539	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368615080	chr19:43858552-43858553	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs201814148	chr19:43858553-43858554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs375720997	chr19:43858560-43858561	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559532165	chr19:43858577-43858578	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs77156507	chr19:43858578-43858579	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114987305	chr19:43858591-43858592	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187648405	chr19:43858610-43858611	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113919272	chr19:43858637-43858638	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs536965240	chr19:43858659-43858660	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs548573901	chr19:43858723-43858724	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs550883079	chr19:43858728-43858729	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552889476	chr19:43858752-43858753	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs118177040	chr19:43858759-43858760	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539292995	chr19:43858760-43858761	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552738372	chr19:43858761-43858762	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573009296	chr19:43858776-43858777	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182649284	chr19:43858813-43858814	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs145646505	chr19:43858830-43858831	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187569563	chr19:43858854-43858855	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192811500	chr19:43858859-43858860	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544258912	chr19:43858899-43858900	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184101969	chr19:43858903-43858904	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs578248024	chr19:43858914-43858915	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs540840796	chr19:43858927-43858928	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs560623762	chr19:43859026-43859027	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs188735381	chr19:43859027-43859028	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs3859484	chr19:43859034-43859035	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs3859485	chr19:43859043-43859044	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs530552922	chr19:43859067-43859068	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372478430	chr19:43859105-43859106	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192043464	chr19:43859113-43859114	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs367925083	chr19:43859120-43859121	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375125683	chr19:43859124-43859125	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533019021	chr19:43859151-43859152	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184546833	chr19:43859171-43859172	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8099890	chr19:43859194-43859195	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs527240974	chr19:43859200-43859201	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566303046	chr19:43859225-43859226	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs535569430	chr19:43859237-43859238	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77411415	chr19:43859256-43859257	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12973222	chr19:43859257-43859258	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs200306843	chr19:43859282-43859283	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62113735	chr19:43859286-43859287	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs555858077	chr19:43859305-43859306	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs539117441	chr19:43859314-43859315	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21509527	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
Ovarian cancer	21240255	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43855800-43864200	Weak transcription	Right Atrium	heart
2	chr19:43857200-43859000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr19:43857600-43858800	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:43857800-43858600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:43857800-43858600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:43857800-43858600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:43857800-43858600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:43857800-43858800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr19:43857800-43858800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr19:43857800-43858800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr19:43857800-43858800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:43857800-43858800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr19:43857800-43859000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr19:43857800-43859000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:43857800-43859000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr19:43858000-43858800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:43858000-43858800	Enhancers	Fetal Brain Male	brain
18	chr19:43858000-43858800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr19:43858200-43858600	Enhancers	Primary hematopoietic stem cells	blood
20	chr19:43858200-43858600	Flanking Active TSS	Colonic Mucosa	Colon
21	chr19:43858200-43858600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr19:43858200-43858600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
23	chr19:43858200-43858800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr19:43858200-43858800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:43858200-43858800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
26	chr19:43858200-43858800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:43858200-43858800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr19:43858200-43858800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:43858400-43858600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:43858400-43858600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr19:43858400-43858600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:43858400-43858600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:43858400-43858600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:43858400-43858600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr19:43858400-43858600	Active TSS	Fetal Brain Female	brain
36	chr19:43858400-43858600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
37	chr19:43858400-43858600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
38	chr19:43858400-43858600	Bivalent Enhancer	Right Ventricle	heart
39	chr19:43858400-43858600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr19:43858400-43858800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:43858400-43858800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:43858400-43859000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr19:43858400-43859000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr19:43858600-43858800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr19:43858600-43858800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:43858600-43858800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:43858600-43858800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:43858600-43858800	Active TSS	Colonic Mucosa	Colon
49	chr19:43858600-43858800	Flanking Active TSS	Fetal Brain Female	brain
50	chr19:43858600-43859000	Active TSS	HUES48 Cell Line	embryonic stem cell

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