Variant report

Variant	esv3353591
Chromosome Location	chr15:40888735-40888917
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40886701..40889426-chr15:40891344..40893759,6	K562	blood:
2	chr15:40884637..40889853-chr15:40895293..40899936,6	K562	blood:
3	chr15:40763032..40765951-chr15:40886754..40888811,2	K562	blood:
4	chr15:40888439..40890299-chr15:40942541..40945027,2	K562	blood:

Variant related genes	Relation type
ENSG00000169105	chromatin interactions
ENSG00000238559	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527857244	chr15:40888741-40888742	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs4924484	chr15:40888753-40888754	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs73394725	chr15:40888775-40888776	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs567667026	chr15:40888798-40888799	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117446933	chr15:40888799-40888800	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs368309369	chr15:40888830-40888831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs76517329	chr15:40888884-40888885	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40887200-40893200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:40887200-40898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:40887400-40891600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:40887600-40898800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:40887600-40902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr15:40887600-40941800	Weak transcription	Fetal Intestine Large	intestine
7	chr15:40887800-40895400	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:40887800-40898800	Weak transcription	Fetal Stomach	stomach
9	chr15:40887800-40902000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:40887800-40933200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:40887800-40942200	Weak transcription	Primary B cells from cord blood	blood
12	chr15:40887800-40948200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:40887800-40961600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:40888000-40892800	Weak transcription	Fetal Heart	heart
15	chr15:40888000-40895000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr15:40888000-40895800	Weak transcription	Thymus	Thymus
17	chr15:40888000-40897800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr15:40888000-40898000	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr15:40888000-40898600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:40888000-40899400	Weak transcription	HSMM	muscle
21	chr15:40888000-40901200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:40888000-40903400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:40888000-40956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr15:40888200-40889800	Weak transcription	A549	lung
25	chr15:40888200-40890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:40888200-40890400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:40888200-40890400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:40888200-40897800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:40888200-40898600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr15:40888200-40898800	Weak transcription	NH-A	brain
31	chr15:40888200-40902200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:40888200-40912800	Weak transcription	HMEC	breast
33	chr15:40888400-40888800	Active TSS	Hela-S3	cervix
34	chr15:40888400-40889200	Weak transcription	Dnd41	blood
35	chr15:40888400-40889400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr15:40888400-40889600	Enhancers	HepG2	liver
37	chr15:40888400-40889800	Enhancers	GM12878-XiMat	blood
38	chr15:40888400-40890200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr15:40888400-40890400	Weak transcription	NHEK	skin
40	chr15:40888400-40892800	Weak transcription	Brain Germinal Matrix	brain
41	chr15:40888400-40895800	Weak transcription	Fetal Thymus	thymus
42	chr15:40888400-40897800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:40888400-40898000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr15:40888400-40898200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr15:40888400-40898800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:40888400-40898800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:40888400-40898800	Weak transcription	Fetal Intestine Small	intestine
48	chr15:40888400-40899800	Weak transcription	HUVEC	blood vessel
49	chr15:40888400-40900800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr15:40888400-40913200	Weak transcription	NHDF-Ad	bronchial

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