Variant report

Variant	esv3362998
Chromosome Location	chr15:56190542-56191008
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56189708..56191637-chr15:56192609..56194993,2	K562	blood:
2	chr15:56189708..56191734-chr15:56192609..56195384,4	K562	blood:
3	chr15:56190390..56193219-chr15:56284965..56287438,2	MCF-7	breast:
4	chr15:56189431..56191033-chr15:56283600..56285774,2	MCF-7	breast:
5	chr15:56186114..56188918-chr15:56190868..56192433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069869	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8027843	chr15:56190629-56190630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180751216	chr15:56190662-56190663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569261817	chr15:56190695-56190696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs187228348	chr15:56190697-56190698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561783720	chr15:56190699-56190700	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558247778	chr15:56190729-56190730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575250499	chr15:56190767-56190768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571822520	chr15:56190774-56190775	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74941688	chr15:56190775-56190776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs8029265	chr15:56190787-56190788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371102805	chr15:56190826-56190827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371117612	chr15:56190830-56190831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs113778248	chr15:56190843-56190844	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77618750	chr15:56190849-56190850	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs398043334	chr15:56190852-56190853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574372443	chr15:56190873-56190874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs35822276	chr15:56190891-56190892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556579415	chr15:56190907-56190908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78560585	chr15:56190921-56190922	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377162621	chr15:56190967-56190968	Weak transcription Enhancers	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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56176000-56216200	Weak transcription	Fetal Intestine Small	intestine
2	chr15:56188400-56207800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:56188600-56218400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:56189400-56190600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:56189400-56190600	Flanking Active TSS	A549	lung
6	chr15:56189400-56190600	Genic enhancers	HSMM	muscle
7	chr15:56189400-56190800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:56189800-56190600	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr15:56189800-56190600	Enhancers	Stomach Smooth Muscle	stomach
10	chr15:56190000-56190600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:56190000-56190600	Enhancers	Muscle Satellite Cultured Cells	--
12	chr15:56190000-56190600	Enhancers	Osteobl	bone
13	chr15:56190000-56190800	Enhancers	HUVEC	blood vessel
14	chr15:56190000-56220000	Weak transcription	Pancreas	Pancrea
15	chr15:56190200-56190800	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr15:56190200-56190800	Enhancers	Hela-S3	cervix
17	chr15:56190200-56190800	Enhancers	NHEK	skin
18	chr15:56190200-56191800	Weak transcription	Right Atrium	heart
19	chr15:56190200-56192400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr15:56190200-56192800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr15:56190200-56195400	Weak transcription	NHLF	lung
22	chr15:56190200-56195800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:56190200-56199400	Weak transcription	HSMMtube	muscle
24	chr15:56190200-56201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:56190200-56221200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:56190400-56190800	Weak transcription	Psoas Muscle	Psoas
27	chr15:56190400-56191800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr15:56190400-56194400	Weak transcription	NH-A	brain
29	chr15:56190400-56195400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:56190400-56196600	Weak transcription	HMEC	breast
31	chr15:56190400-56199200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr15:56190400-56199200	Weak transcription	NHDF-Ad	bronchial
33	chr15:56190400-56199600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr15:56190400-56219800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr15:56190600-56192200	Enhancers	A549	lung
36	chr15:56190600-56193600	Weak transcription	HSMM	muscle
37	chr15:56190600-56195000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr15:56190600-56195000	Weak transcription	Osteobl	bone
39	chr15:56190800-56191800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:56190800-56192600	Enhancers	Psoas Muscle	Psoas
41	chr15:56190800-56196600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:56190800-56196600	Weak transcription	NHEK	skin
43	chr15:56190800-56199400	Weak transcription	Hela-S3	cervix

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