Variant report

Variant	esv3372676
Chromosome Location	chr15:77368922-77371470
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	chr15:77358882..77364790-chr15:77365543..77372289,11	K562	blood:

Variant related genes	Relation type
ENSG00000140391	chromatin interactions
ENSG00000269951	chromatin interactions

Extended variants
information (count: 188 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:188 , 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	rs557351565	chr15:77368952-77368953	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs34101991	chr15:77368959-77368960	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs575569891	chr15:77368968-77368969	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs546141123	chr15:77368986-77368987	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549366054	chr15:77368996-77368997	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs144296205	chr15:77369028-77369029	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573530046	chr15:77369079-77369080	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs540875614	chr15:77369080-77369081	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs140764742	chr15:77369082-77369083	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369154921	chr15:77369102-77369103	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144831820	chr15:77369115-77369116	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543951671	chr15:77369180-77369181	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562576392	chr15:77369213-77369214	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532805741	chr15:77369253-77369254	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs147520804	chr15:77369293-77369294	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs557393585	chr15:77369328-77369329	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs566659619	chr15:77369357-77369358	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527580377	chr15:77369361-77369362	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538583599	chr15:77369386-77369387	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs140078866	chr15:77369396-77369397	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376623458	chr15:77369444-77369445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537619602	chr15:77369456-77369457	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557188388	chr15:77369496-77369497	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs569290438	chr15:77369505-77369506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs533094135	chr15:77369507-77369508	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539450059	chr15:77369512-77369513	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs202225390	chr15:77369520-77369521	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs372059440	chr15:77369521-77369522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs35110232	chr15:77369533-77369534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs12905675	chr15:77369535-77369536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs12904316	chr15:77369537-77369538	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558128997	chr15:77369541-77369542	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369124680	chr15:77369542-77369543	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12904785	chr15:77369543-77369544	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs12904328	chr15:77369559-77369560	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs12904332	chr15:77369561-77369562	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs12904488	chr15:77369568-77369569	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs62007216	chr15:77369572-77369573	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12905687	chr15:77369574-77369575	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs540912142	chr15:77369575-77369576	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs115155517	chr15:77369590-77369591	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs185284077	chr15:77369592-77369593	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs140732038	chr15:77369600-77369601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199848141	chr15:77369605-77369606	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs12904665	chr15:77369612-77369613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs202033974	chr15:77369613-77369614	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs12905827	chr15:77369614-77369615	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12904670	chr15:77369620-77369621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs373011194	chr15:77369621-77369622	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs541903563	chr15:77369622-77369623	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77363400-77370400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:77363600-77374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:77363800-77369000	Weak transcription	Esophagus	oesophagus
4	chr15:77363800-77374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:77364000-77370400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:77364000-77375800	Weak transcription	Right Atrium	heart
7	chr15:77367600-77369200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr15:77367800-77369000	Enhancers	Brain Angular Gyrus	brain
9	chr15:77367800-77369000	Enhancers	Brain Cingulate Gyrus	brain
10	chr15:77367800-77369200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:77367800-77369200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr15:77367800-77369200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:77367800-77369200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:77367800-77369200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:77367800-77369200	Enhancers	Adipose Nuclei	Adipose
16	chr15:77367800-77369200	Enhancers	Brain Germinal Matrix	brain
17	chr15:77367800-77369200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:77367800-77369200	Enhancers	HSMMtube	muscle
19	chr15:77367800-77369400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:77367800-77369600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:77368200-77369000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:77368200-77369200	Enhancers	HSMM	muscle
23	chr15:77368400-77369200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:77368400-77369200	Enhancers	Brain Anterior Caudate	brain
25	chr15:77368800-77369000	Flanking Bivalent TSS/Enh	Hela-S3	cervix
26	chr15:77368800-77369000	Bivalent Enhancer	NHDF-Ad	bronchial
27	chr15:77368800-77369200	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr15:77368800-77369200	Flanking Active TSS	Brain Substantia Nigra	brain
29	chr15:77368800-77369200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr15:77369000-77369200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:77369000-77369200	Enhancers	Esophagus	oesophagus
32	chr15:77369000-77369200	Bivalent Enhancer	Hela-S3	cervix
33	chr15:77369200-77371800	Weak transcription	Esophagus	oesophagus
34	chr15:77369200-77374400	Weak transcription	HSMMtube	muscle
35	chr15:77369200-77374800	Weak transcription	Brain Anterior Caudate	brain
36	chr15:77369400-77374200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:77370400-77370600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:77370400-77370800	Enhancers	K562	blood
39	chr15:77370400-77371200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr15:77370400-77371800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr15:77370600-77371400	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr15:77370600-77376200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:77370800-77376800	Weak transcription	K562	blood
44	chr15:77371200-77371800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr15:77371400-77371800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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