Variant report

Variant	esv3395877
Chromosome Location	chr15:55837807-55838061
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	chr15:55832795..55834702-chr15:55836212..55838623,2	MCF-7	breast:
2	chr15:55833138..55835876-chr15:55835973..55838039,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150283748	chr15:55837810-55837811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs1550328	chr15:55837818-55837819	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs137899798	chr15:55837861-55837862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536599231	chr15:55837862-55837863	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1550327	chr15:55837888-55837889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570854361	chr15:55837899-55837900	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs539720395	chr15:55837923-55837924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553186651	chr15:55837972-55837973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545524875	chr15:55837985-55837986	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141530042	chr15:55837999-55838000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370305544	chr15:55838004-55838005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374849883	chr15:55838005-55838006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71681771	chr15:55838006-55838007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75288108	chr15:55838007-55838008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573325047	chr15:55838024-55838025	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	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
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55819200-55844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:55823400-55838200	Weak transcription	HSMM	muscle
3	chr15:55823800-55838200	Weak transcription	HSMMtube	muscle
4	chr15:55826400-55838200	Weak transcription	NHDF-Ad	bronchial
5	chr15:55830800-55838200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:55831000-55838200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr15:55831200-55838200	Weak transcription	Osteobl	bone
8	chr15:55831200-55839000	Weak transcription	NH-A	brain
9	chr15:55831200-55844800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:55831200-55846800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:55832200-55838200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:55832400-55838200	Weak transcription	Aorta	Aorta
13	chr15:55834000-55845000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr15:55834800-55838200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:55834800-55838200	Weak transcription	Left Ventricle	heart
16	chr15:55835200-55844800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:55835600-55838000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:55835600-55838200	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:55835800-55838200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:55835800-55838200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:55836000-55838200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:55836000-55838400	Weak transcription	Fetal Lung	lung
23	chr15:55836000-55846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:55836200-55838200	Weak transcription	Fetal Stomach	stomach
25	chr15:55836200-55838200	Weak transcription	A549	lung
26	chr15:55836200-55845200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:55836400-55840800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:55836400-55844800	Weak transcription	Fetal Brain Male	brain
29	chr15:55836600-55838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr15:55836600-55838200	Weak transcription	Fetal Brain Female	brain
31	chr15:55836600-55838200	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:55836600-55840000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:55836600-55840200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr15:55837000-55838200	Weak transcription	Ovary	ovary
35	chr15:55837000-55839800	Weak transcription	Adipose Nuclei	Adipose
36	chr15:55837200-55844800	Weak transcription	NHLF	lung
37	chr15:55837400-55838000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:55837400-55838600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:55837400-55838800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr15:55837400-55839000	Weak transcription	HUVEC	blood vessel
41	chr15:55837400-55840000	Weak transcription	Fetal Intestine Large	intestine
42	chr15:55837400-55842400	Weak transcription	Brain Germinal Matrix	brain
43	chr15:55837600-55839200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr15:55837600-55840000	Weak transcription	Right Ventricle	heart
45	chr15:55837600-55843200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:55837800-55839000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr15:55837800-55840200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:55838000-55839200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:55838000-55839400	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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