Variant report

Variant	esv2761910
Chromosome Location	chr15:56082974-56087827
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	chr15:56034718..56037980-chr15:56081519..56084125,3	MCF-7	breast:
2	chr15:56077249..56078804-chr15:56081657..56084527,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166450	chromatin interactions

Extended variants
information (count: 193 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4617792	chr15:56082974-56082975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs532749189	chr15:56083040-56083041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs552441115	chr15:56083093-56083094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184292473	chr15:56083098-56083099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs34147841	chr15:56083103-56083104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs5812820	chr15:56083110-56083111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75180922	chr15:56083115-56083116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114759669	chr15:56083124-56083125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs881868	chr15:56083135-56083136	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs536597700	chr15:56083156-56083157	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550093429	chr15:56083158-56083159	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59666651	chr15:56083206-56083207	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs188586350	chr15:56083226-56083227	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192401137	chr15:56083234-56083235	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs62043936	chr15:56083239-56083240	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114118562	chr15:56083288-56083289	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534399569	chr15:56083301-56083302	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs184287235	chr15:56083377-56083378	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs148904031	chr15:56083399-56083400	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542972735	chr15:56083469-56083470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57712261	chr15:56083487-56083488	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577434599	chr15:56083494-56083495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs143634946	chr15:56083538-56083539	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs8040325	chr15:56083540-56083541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs58524058	chr15:56083592-56083593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs2414440	chr15:56083620-56083621	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs190400408	chr15:56083621-56083622	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530940372	chr15:56083659-56083660	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs550653773	chr15:56083688-56083689	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571882709	chr15:56083701-56083702	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35632854	chr15:56083710-56083711	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374360199	chr15:56083765-56083766	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377649684	chr15:56083773-56083774	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs77750844	chr15:56083798-56083799	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148091414	chr15:56083805-56083806	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374140649	chr15:56083888-56083889	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs73412222	chr15:56083900-56083901	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs142831724	chr15:56084011-56084012	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs145042498	chr15:56084018-56084019	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536667003	chr15:56084029-56084030	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs4238319	chr15:56084058-56084059	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs548065231	chr15:56084069-56084070	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546156679	chr15:56084121-56084122	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs182592771	chr15:56084131-56084132	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs73412224	chr15:56084133-56084134	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs200756550	chr15:56084150-56084151	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs138896778	chr15:56084157-56084158	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs73412227	chr15:56084160-56084161	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs882509	chr15:56084178-56084179	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564308532	chr15:56084260-56084261	Enhancers Flanking Active TSS	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56079000-56083800	Weak transcription	HepG2	liver
2	chr15:56079200-56083800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:56079200-56083800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr15:56079200-56084200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:56083000-56083600	Enhancers	Hela-S3	cervix
6	chr15:56083000-56085000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr15:56083000-56085200	Enhancers	HSMMtube	muscle
8	chr15:56083200-56085000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr15:56083400-56083600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:56083400-56085000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr15:56083400-56085200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:56083600-56083800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr15:56083600-56084600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:56083600-56084600	Enhancers	NH-A	brain
15	chr15:56083600-56084800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr15:56083600-56084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:56083600-56084800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr15:56083600-56084800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:56083600-56084800	Enhancers	Placenta	Placenta
20	chr15:56083600-56084800	Enhancers	Stomach Mucosa	stomach
21	chr15:56083600-56085000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:56083600-56085000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:56083600-56085000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:56083600-56085000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:56083600-56085000	Flanking Active TSS	Hela-S3	cervix
26	chr15:56083600-56085000	Enhancers	HMEC	breast
27	chr15:56083600-56085000	Enhancers	NHLF	lung
28	chr15:56083600-56085000	Enhancers	Osteobl	bone
29	chr15:56083600-56085200	Enhancers	HSMM	muscle
30	chr15:56083800-56084000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:56083800-56084200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr15:56083800-56084400	Enhancers	NHEK	skin
33	chr15:56083800-56084800	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:56083800-56084800	Enhancers	NHDF-Ad	bronchial
35	chr15:56083800-56085000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr15:56083800-56085000	Enhancers	HepG2	liver
37	chr15:56084000-56084400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:56084000-56084400	Enhancers	Aorta	Aorta
39	chr15:56084200-56084600	Enhancers	Fetal Intestine Small	intestine
40	chr15:56084200-56084800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:56084400-56084800	Enhancers	Fetal Thymus	thymus
42	chr15:56084400-56085200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:56085000-56085400	Enhancers	Hela-S3	cervix
44	chr15:56085000-56086000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:56085000-56088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:56085000-56088600	Weak transcription	HMEC	breast
47	chr15:56085000-56091400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:56085200-56091200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:56085200-56091800	Weak transcription	HSMM	muscle
50	chr15:56086000-56086800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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