Variant report

Variant	esv3311792
Chromosome Location	chr15:55868589-55869099
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	chr15:55868467..55871093-chr15:55879725..55881749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171016	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 58 )

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	rs374268931	chr15:55868609-55868610	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs183393820	chr15:55868750-55868751	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538654798	chr15:55868758-55868759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187322563	chr15:55868761-55868762	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577823173	chr15:55868826-55868827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs531515812	chr15:55868827-55868828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs62021871	chr15:55868829-55868830	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs372727674	chr15:55868839-55868840	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs573794156	chr15:55868906-55868907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555010654	chr15:55868935-55868936	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542776025	chr15:55868950-55868951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs565282951	chr15:55868954-55868955	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs376675658	chr15:55868957-55868958	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs368845891	chr15:55868958-55868959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71105897	chr15:55868966-55868967	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs199538772	chr15:55868967-55868968	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367654946	chr15:55869080-55869081	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55846200-55878800	Weak transcription	HSMM	muscle
2	chr15:55855400-55877600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:55858000-55879400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:55859600-55878800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr15:55861200-55878400	Weak transcription	Fetal Muscle Leg	muscle
6	chr15:55862000-55869400	Weak transcription	Colon Smooth Muscle	Colon
7	chr15:55862400-55869400	Weak transcription	Psoas Muscle	Psoas
8	chr15:55863800-55878200	Weak transcription	Fetal Brain Male	brain
9	chr15:55864000-55873600	Weak transcription	Fetal Stomach	stomach
10	chr15:55864000-55878200	Weak transcription	Fetal Lung	lung
11	chr15:55865000-55869200	Weak transcription	A549	lung
12	chr15:55865600-55869000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr15:55865600-55879000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:55866400-55869200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:55866600-55869000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:55866600-55875200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr15:55866600-55878200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:55866600-55878800	Weak transcription	HSMMtube	muscle
19	chr15:55866600-55878800	Weak transcription	NHDF-Ad	bronchial
20	chr15:55866800-55878600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:55868000-55873000	Weak transcription	Brain Germinal Matrix	brain
22	chr15:55868200-55872600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:55869000-55869600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:55869000-55873600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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