Variant report

Variant	esv3366934
Chromosome Location	chr15:40566559-40566890
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40507899..40511190-chr15:40564977..40567533,3	MCF-7	breast:
2	chr15:40336630..40337966-chr15:40566528..40567460,17	K562	blood:
3	chr15:39977990..39978884-chr15:40566769..40567521,2	K562	blood:
4	chr15:40556498..40560954-chr15:40561713..40567483,5	MCF-7	breast:
5	chr15:40322252..40323110-chr15:40566583..40567527,5	K562	blood:
6	chr15:40566616..40567536-chr15:40575443..40576329,2	K562	blood:
7	chr15:40543324..40544589-chr15:40566509..40567486,5	MCF-7	breast:
8	chr15:40531660..40532193-chr15:40566578..40567313,2	MCF-7	breast:
9	chr15:40337054..40338155-chr15:40566547..40567480,5	MCF-7	breast:
10	chr15:40531032..40531701-chr15:40566512..40567430,2	MCF-7	breast:
11	chr15:40566645..40567517-chr15:40601865..40602542,3	K562	blood:
12	chr15:40537059..40538375-chr15:40566657..40567392,4	MCF-7	breast:
13	chr15:40078638..40079472-chr15:40566591..40567310,2	MCF-7	breast:
14	chr15:40537194..40537865-chr15:40566649..40567440,2	MCF-7	breast:
15	chr15:40508840..40510209-chr15:40566468..40567517,20	MCF-7	breast:
16	chr15:40508806..40511063-chr15:40566498..40567957,44	K562	blood:
17	chr15:40078495..40079355-chr15:40566600..40567596,4	K562	blood:
18	chr15:40509026..40510811-chr15:40564171..40567983,79	MCF-7	breast:
19	chr15:40509342..40510064-chr15:40566620..40567261,2	MCF-7	breast:
20	chr15:40566814..40567330-chr15:40628604..40629206,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259288	chromatin interactions
ENSG00000137843	chromatin interactions
ENSG00000128829	chromatin interactions
ENSG00000156970	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531833538	chr15:40566590-40566591	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs548246428	chr15:40566598-40566599	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs568480610	chr15:40566599-40566600	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs566662580	chr15:40566651-40566652	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs534219850	chr15:40566660-40566661	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs148589766	chr15:40566681-40566682	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs534128489	chr15:40566683-40566684	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs371936811	chr15:40566685-40566686	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs546935086	chr15:40566708-40566709	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs56282503	chr15:40566759-40566760	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529435344	chr15:40566763-40566764	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs7170576	chr15:40566765-40566766	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs575203693	chr15:40566787-40566788	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs537956448	chr15:40566796-40566797	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40546000-40571800	Weak transcription	Right Ventricle	heart
2	chr15:40546200-40568200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:40550000-40568000	Weak transcription	Spleen	Spleen
4	chr15:40550400-40566800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:40551400-40571000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:40553800-40570400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr15:40555400-40566600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr15:40556200-40567400	Strong transcription	Fetal Intestine Small	intestine
9	chr15:40556200-40567600	Weak transcription	Colonic Mucosa	Colon
10	chr15:40557000-40568200	Weak transcription	Lung	lung
11	chr15:40557200-40571800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40557400-40566800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr15:40559000-40570000	Weak transcription	Brain Anterior Caudate	brain
14	chr15:40559200-40568000	Weak transcription	Brain Germinal Matrix	brain
15	chr15:40559200-40570000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:40559400-40570200	Weak transcription	Brain Angular Gyrus	brain
17	chr15:40559400-40571600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:40559600-40567200	Weak transcription	Stomach Mucosa	stomach
19	chr15:40559600-40568800	Weak transcription	Fetal Brain Female	brain
20	chr15:40559600-40569000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:40559600-40569200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:40559600-40570000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:40559600-40570400	Strong transcription	Esophagus	oesophagus
24	chr15:40559600-40571800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr15:40559800-40567000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:40560200-40566600	Weak transcription	K562	blood
27	chr15:40560200-40568200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:40560400-40566600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:40560600-40567200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:40560600-40567200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr15:40560800-40571800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr15:40561800-40567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:40562200-40566800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr15:40562600-40567000	Strong transcription	HMEC	breast
35	chr15:40564400-40566600	Strong transcription	Pancreas	Pancrea
36	chr15:40564400-40568000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:40564400-40569400	Strong transcription	NHEK	skin
38	chr15:40564600-40566800	Weak transcription	Liver	Liver
39	chr15:40565200-40566600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:40565400-40567000	Strong transcription	Fetal Intestine Large	intestine
41	chr15:40565600-40566600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:40565600-40571800	Weak transcription	Right Atrium	heart
43	chr15:40565800-40566600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:40566200-40570000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr15:40566400-40567000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:40566400-40567000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr15:40566400-40567400	Enhancers	Fetal Heart	heart
48	chr15:40566400-40567400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr15:40566400-40567800	Weak transcription	Placenta	Placenta
50	chr15:40566400-40571800	Weak transcription	Gastric	stomach

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