Variant report

Variant	esv3393795
Chromosome Location	chr19:42887512-42891710
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42848657..42850188-chr19:42889894..42891557,2	MCF-7	breast:
2	chr19:42886045..42887590-chr19:42890896..42893115,2	K562	blood:
3	chr19:42890893..42891547-chr19:42937567..42938070,2	MCF-7	breast:
4	chr19:42889502..42891146-chr19:42893810..42896023,2	K562	blood:
5	chr19:42582306..42582902-chr19:42891227..42892126,2	MCF-7	breast:
6	chr19:42804975..42806852-chr19:42888889..42891720,2	MCF-7	breast:
7	chr19:42886045..42887590-chr19:42890896..42893115,2	K562	blood:
8	chr19:42816374..42819101-chr19:42890006..42892770,2	MCF-7	breast:
9	chr19:42882253..42884746-chr19:42889914..42891793,2	MCF-7	breast:
10	chr19:42891039..42891750-chr5:40679071..40679824,2	Hela-S3	cervix:
11	chr12:120729276..120730006-chr19:42890948..42891530,2	Hela-S3	cervix:
12	chr17:38084028..38084744-chr19:42891148..42891821,2	HCT-116	colon:
13	chr19:42877710..42882925-chr19:42884420..42888840,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000167619	chromatin interactions
ENSG00000171522	chromatin interactions
ENSG00000188368	chromatin interactions
ENSG00000105427	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000264968	chromatin interactions
ENSG00000079462	chromatin interactions

Extended variants
information (count: 179 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:179 , 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	rs28412914	chr19:42887525-42887526	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568047597	chr19:42887526-42887527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530369145	chr19:42887528-42887529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546216768	chr19:42887669-42887670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548875148	chr19:42887726-42887727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569970207	chr19:42887744-42887745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537261278	chr19:42887793-42887794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558709308	chr19:42887800-42887801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111647596	chr19:42887854-42887855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570637209	chr19:42887880-42887881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535112810	chr19:42887886-42887887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374553575	chr19:42887909-42887910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545956066	chr19:42887915-42887916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183850504	chr19:42887933-42887934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541809856	chr19:42887943-42887944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557855444	chr19:42887950-42887951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11880014	chr19:42887980-42887981	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs112011106	chr19:42888018-42888019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575577404	chr19:42888025-42888026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188819499	chr19:42888119-42888120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546056363	chr19:42888138-42888139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192873583	chr19:42888197-42888198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369534464	chr19:42888221-42888222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375280210	chr19:42888222-42888223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369343622	chr19:42888223-42888224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184098160	chr19:42888267-42888268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11882625	chr19:42888285-42888286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs150797081	chr19:42888317-42888318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188635954	chr19:42888351-42888352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112176810	chr19:42888434-42888435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149499180	chr19:42888435-42888436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531086159	chr19:42888452-42888453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191546987	chr19:42888455-42888456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114990622	chr19:42888463-42888464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534865119	chr19:42888514-42888515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372493894	chr19:42888609-42888610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553435278	chr19:42888626-42888627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568432776	chr19:42888633-42888634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535858809	chr19:42888665-42888666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557377872	chr19:42888690-42888691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143964373	chr19:42888697-42888698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542148164	chr19:42888730-42888731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558027431	chr19:42888731-42888732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573005845	chr19:42888800-42888801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540008641	chr19:42888801-42888802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561844845	chr19:42888830-42888831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573636947	chr19:42888885-42888886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs183656984	chr19:42888905-42888906	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535213445	chr19:42888951-42888952	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs562139579	chr19:42888956-42888957	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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42869600-42890800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:42871400-42890800	Weak transcription	Psoas Muscle	Psoas
3	chr19:42874400-42891000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:42877200-42890800	Weak transcription	Primary B cells from cord blood	blood
5	chr19:42877200-42890800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr19:42879400-42891000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr19:42879600-42890800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr19:42880000-42891000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:42880400-42891000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:42880800-42890600	Weak transcription	Right Ventricle	heart
11	chr19:42881200-42891000	Weak transcription	Gastric	stomach
12	chr19:42881400-42891000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:42881400-42891000	Weak transcription	Brain Anterior Caudate	brain
14	chr19:42881400-42891200	Weak transcription	Brain Hippocampus Middle	brain
15	chr19:42881600-42891000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:42882800-42890800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:42885000-42890800	Weak transcription	A549	lung
18	chr19:42886200-42891000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:42886200-42891000	Weak transcription	Spleen	Spleen
20	chr19:42890800-42891000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr19:42890800-42891000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:42890800-42891000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr19:42890800-42891000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:42890800-42891000	Enhancers	Primary B cells from cord blood	blood
25	chr19:42890800-42891000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:42890800-42891000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr19:42890800-42891000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:42890800-42891000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:42890800-42891000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr19:42890800-42891000	Bivalent Enhancer	Stomach Mucosa	stomach
31	chr19:42890800-42891000	Enhancers	Hela-S3	cervix
32	chr19:42890800-42891000	Bivalent Enhancer	HepG2	liver
33	chr19:42890800-42891000	Enhancers	HMEC	breast
34	chr19:42890800-42891200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr19:42890800-42891200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:42890800-42891200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr19:42890800-42891200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr19:42890800-42891200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr19:42890800-42891200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr19:42890800-42891200	Enhancers	Primary B cells from peripheral blood	blood
41	chr19:42890800-42891200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
42	chr19:42890800-42891200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr19:42890800-42891200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:42890800-42891200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr19:42890800-42891200	Bivalent Enhancer	Fetal Stomach	stomach
46	chr19:42890800-42891200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr19:42890800-42891400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr19:42890800-42891400	Bivalent Enhancer	Fetal Thymus	thymus
49	chr19:42890800-42891400	Flanking Active TSS	A549	lung
50	chr19:42890800-42891400	Flanking Active TSS	NHEK	skin

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