Variant report

Variant	esv3449055
Chromosome Location	chr15:42017707-42018097
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	chr15:42018096..42020182-chr15:42050911..42053494,2	K562	blood:

Variant related genes	Relation type
ENSG00000174197	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141344476	chr15:42017713-42017714	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146467899	chr15:42017723-42017724	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371120778	chr15:42017747-42017748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200969300	chr15:42017749-42017750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201877991	chr15:42017750-42017751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200056243	chr15:42017751-42017752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528111178	chr15:42017770-42017771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545832073	chr15:42017789-42017790	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564831940	chr15:42017790-42017791	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545132512	chr15:42018026-42018027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530739046	chr15:42018027-42018028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575406640	chr15:42018029-42018030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201032903	chr15:42018059-42018060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs372773784	chr15:42018060-42018061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376076510	chr15:42018061-42018062	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369379626	chr15:42018062-42018063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201801950	chr15:42018063-42018064	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6145538	chr15:42018067-42018068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141405885	chr15:42018094-42018095	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41972400-42065200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:41984200-42034800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:41989000-42041600	Weak transcription	Fetal Brain Male	brain
4	chr15:41995400-42023800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:41996200-42034800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:41999800-42018400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:42002000-42021400	Weak transcription	Esophagus	oesophagus
8	chr15:42002200-42028400	Weak transcription	Pancreas	Pancrea
9	chr15:42003600-42021800	Weak transcription	Lung	lung
10	chr15:42003600-42026800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:42003600-42027000	Weak transcription	Brain Germinal Matrix	brain
12	chr15:42003600-42028400	Weak transcription	Aorta	Aorta
13	chr15:42003800-42021400	Weak transcription	Fetal Kidney	kidney
14	chr15:42003800-42027200	Weak transcription	Spleen	Spleen
15	chr15:42003800-42028400	Weak transcription	Gastric	stomach
16	chr15:42003800-42028400	Weak transcription	Small Intestine	intestine
17	chr15:42003800-42056000	Weak transcription	Colonic Mucosa	Colon
18	chr15:42004000-42020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:42004000-42021200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr15:42004000-42021400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:42004000-42026800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:42004000-42027000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:42004200-42021400	Weak transcription	Left Ventricle	heart
24	chr15:42004600-42020200	Weak transcription	Fetal Stomach	stomach
25	chr15:42004600-42026600	Weak transcription	Right Ventricle	heart
26	chr15:42004800-42021400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:42005400-42019200	Weak transcription	HSMMtube	muscle
28	chr15:42005400-42027000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:42005400-42028400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:42005600-42018600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:42005600-42021200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:42005600-42027200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:42005600-42027400	Weak transcription	NHDF-Ad	bronchial
34	chr15:42005800-42018200	Weak transcription	K562	blood
35	chr15:42005800-42020800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:42005800-42020800	Weak transcription	HUVEC	blood vessel
37	chr15:42005800-42022600	Weak transcription	Brain Angular Gyrus	brain
38	chr15:42005800-42027000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:42005800-42028400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr15:42006000-42019200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:42006000-42021400	Weak transcription	Brain Anterior Caudate	brain
42	chr15:42006000-42022600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:42006000-42026200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:42006000-42028400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr15:42006200-42020600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr15:42006200-42021200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr15:42006200-42021400	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:42006200-42021400	Weak transcription	Ovary	ovary
49	chr15:42006200-42021400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr15:42006200-42022600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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