Variant report

Variant	esv3450719
Chromosome Location	chr15:76456116-76456350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76452254..76455049-chr15:76455599..76457140,2	K562	blood:
2	chr15:76455415..76457030-chr15:76460537..76462743,2	K562	blood:
3	chr15:76436435..76439411-chr15:76454805..76456724,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527504017	chr15:76456145-76456146	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs190743676	chr15:76456146-76456147	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs567609659	chr15:76456183-76456184	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs62030163	chr15:76456184-76456185	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs142987450	chr15:76456264-76456265	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs375830843	chr15:76456297-76456298	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542079140	chr15:76456302-76456303	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs561899166	chr15:76456346-76456347	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76443200-76483000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:76443400-76466000	Weak transcription	Brain Angular Gyrus	brain
3	chr15:76452800-76456600	Enhancers	Pancreas	Pancrea
4	chr15:76452800-76458800	Enhancers	Placenta	Placenta
5	chr15:76452800-76459200	Enhancers	Fetal Muscle Leg	muscle
6	chr15:76453000-76456200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr15:76453000-76457600	Enhancers	Adipose Nuclei	Adipose
8	chr15:76453000-76459000	Enhancers	Ovary	ovary
9	chr15:76453200-76456400	Enhancers	HSMM	muscle
10	chr15:76453200-76456800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:76453200-76457400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:76453200-76457600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr15:76453400-76457600	Enhancers	Fetal Lung	lung
14	chr15:76453400-76457600	Enhancers	Spleen	Spleen
15	chr15:76453400-76459000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr15:76453400-76461000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:76453600-76456400	Enhancers	Fetal Brain Male	brain
18	chr15:76453800-76456200	Enhancers	Fetal Intestine Small	intestine
19	chr15:76453800-76456200	Enhancers	Stomach Smooth Muscle	stomach
20	chr15:76453800-76456600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:76453800-76456800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:76453800-76457600	Enhancers	Psoas Muscle	Psoas
23	chr15:76454000-76456400	Enhancers	Colonic Mucosa	Colon
24	chr15:76454000-76456600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:76454000-76457000	Enhancers	Fetal Stomach	stomach
26	chr15:76454400-76456400	Enhancers	HSMMtube	muscle
27	chr15:76454600-76461000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:76454800-76456600	Enhancers	NHLF	lung
29	chr15:76455000-76456600	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr15:76455000-76457200	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr15:76455000-76457800	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:76455200-76456200	Enhancers	HMEC	breast
33	chr15:76455200-76456400	Enhancers	Fetal Intestine Large	intestine
34	chr15:76455200-76456400	Enhancers	Lung	lung
35	chr15:76455200-76456400	Flanking Active TSS	Hela-S3	cervix
36	chr15:76455200-76456600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:76455400-76456200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr15:76455600-76456200	Enhancers	Duodenum Mucosa	Duodenum
39	chr15:76455600-76456200	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr15:76455600-76456200	Enhancers	A549	lung
41	chr15:76455600-76456400	Flanking Active TSS	HepG2	liver
42	chr15:76455600-76456400	Enhancers	NHDF-Ad	bronchial
43	chr15:76455600-76463000	Weak transcription	Colon Smooth Muscle	Colon
44	chr15:76455800-76456200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr15:76455800-76456200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:76455800-76456200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:76455800-76456400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:76455800-76456400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr15:76455800-76457000	Enhancers	Fetal Muscle Trunk	muscle
50	chr15:76455800-76465200	Weak transcription	Right Atrium	heart

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