Variant report

Variant	nsv983992
Chromosome Location	chr15:57763203-57763797
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	chr15:57753396..57757139-chr15:57762848..57768344,4	K562	blood:
2	chr15:57761779..57763343-chr15:57766139..57768515,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140195438	chr15:57763211-57763212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557272927	chr15:57763264-57763265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576810350	chr15:57763310-57763311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143883130	chr15:57763329-57763330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553156627	chr15:57763356-57763357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573295475	chr15:57763375-57763376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541611871	chr15:57763426-57763427	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150934841	chr15:57763460-57763461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4774943	chr15:57763464-57763465	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544499618	chr15:57763495-57763496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538880175	chr15:57763575-57763576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140673957	chr15:57763597-57763598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149692736	chr15:57763613-57763614	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185033096	chr15:57763724-57763725	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145535936	chr15:57763725-57763726	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559954079	chr15:57763741-57763742	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534254884	chr15:57763772-57763773	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57732600-57768000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:57736000-57767600	Weak transcription	Fetal Kidney	kidney
3	chr15:57738600-57767400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:57738600-57768800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:57741200-57766400	Strong transcription	Liver	Liver
6	chr15:57746200-57769400	Weak transcription	Aorta	Aorta
7	chr15:57749800-57766400	Weak transcription	HepG2	liver
8	chr15:57749800-57787400	Weak transcription	Ovary	ovary
9	chr15:57750200-57769000	Weak transcription	Fetal Intestine Small	intestine
10	chr15:57751000-57769800	Weak transcription	Lung	lung
11	chr15:57751400-57769000	Weak transcription	Fetal Lung	lung
12	chr15:57752600-57767200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:57753200-57768800	Weak transcription	Fetal Muscle Leg	muscle
14	chr15:57754200-57763400	Weak transcription	Gastric	stomach
15	chr15:57754200-57768600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr15:57754200-57769400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr15:57754200-57769400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:57754200-57769800	Weak transcription	Right Ventricle	heart
19	chr15:57754400-57765800	Weak transcription	Pancreas	Pancrea
20	chr15:57754400-57766600	Weak transcription	Stomach Smooth Muscle	stomach
21	chr15:57756200-57767200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:57756400-57765000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr15:57756400-57770800	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:57756600-57763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:57758000-57768800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr15:57758400-57763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr15:57759000-57765000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:57759000-57767800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr15:57759800-57768800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr15:57760400-57763800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr15:57761600-57764400	Weak transcription	Fetal Stomach	stomach
32	chr15:57761800-57763600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr15:57762200-57768200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:57762200-57769000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:57762200-57769800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:57762200-57770200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:57762400-57764400	Weak transcription	Fetal Heart	heart
38	chr15:57763400-57767200	Strong transcription	Gastric	stomach
39	chr15:57763400-57767400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:57763600-57764000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr15:57763600-57765400	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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