Variant report

Variant	esv3401586
Chromosome Location	chr15:41545608-41545630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZC3H11A	chr15:41545538-41545700	K562	blood:	n/a	n/a

Variant related genes	Relation type
CHP1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8034073	chr15:41545613-41545614	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs373688528	chr15:41545621-41545622	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs527841412	chr15:41545622-41545623	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs202140339	chr15:41545624-41545625	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Chronic lymphocytic leukemia	20421269	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41524200-41546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:41524200-41554800	Weak transcription	Fetal Thymus	thymus
3	chr15:41524200-41555800	Weak transcription	Aorta	Aorta
4	chr15:41524200-41563800	Weak transcription	Small Intestine	intestine
5	chr15:41524200-41575800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:41524400-41555800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:41524800-41546200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr15:41524800-41563800	Weak transcription	Esophagus	oesophagus
9	chr15:41525000-41548400	Weak transcription	Fetal Lung	lung
10	chr15:41525200-41548200	Weak transcription	Fetal Kidney	kidney
11	chr15:41525200-41554200	Weak transcription	Fetal Brain Female	brain
12	chr15:41525200-41556400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:41525200-41575400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:41525400-41556200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr15:41525400-41556800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr15:41525800-41554800	Weak transcription	Dnd41	blood
17	chr15:41525800-41575200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:41526000-41554800	Weak transcription	Brain Angular Gyrus	brain
19	chr15:41526200-41554800	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:41532400-41550600	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr15:41533200-41548400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr15:41533200-41552400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:41533800-41554600	Weak transcription	Brain Anterior Caudate	brain
24	chr15:41533800-41555000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:41534000-41555200	Weak transcription	Brain Germinal Matrix	brain
26	chr15:41534200-41551000	Weak transcription	GM12878-XiMat	blood
27	chr15:41534200-41555200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr15:41534200-41556400	Weak transcription	Spleen	Spleen
29	chr15:41536600-41573600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr15:41536800-41555000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:41536800-41555200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:41537000-41546400	Weak transcription	K562	blood
33	chr15:41537000-41549800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:41537200-41546000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr15:41537200-41548600	Weak transcription	HUVEC	blood vessel
36	chr15:41537200-41553000	Weak transcription	Colonic Mucosa	Colon
37	chr15:41537200-41555000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr15:41537400-41546600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr15:41537400-41547800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:41537400-41555000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:41537400-41570800	Weak transcription	Ovary	ovary
42	chr15:41537600-41552000	Weak transcription	Pancreas	Pancrea
43	chr15:41537600-41562800	Weak transcription	Lung	lung
44	chr15:41537800-41548600	Weak transcription	Brain Hippocampus Middle	brain
45	chr15:41537800-41549800	Weak transcription	Right Ventricle	heart
46	chr15:41537800-41552000	Weak transcription	Psoas Muscle	Psoas
47	chr15:41537800-41554600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr15:41538000-41549200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr15:41538000-41550000	Weak transcription	Brain Substantia Nigra	brain
50	chr15:41538200-41546400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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