Variant report

Variant	nsv510668
Chromosome Location	chr15:76879852-76901937
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	chr15:76877558..76879609-chr15:76881319..76882907,2	K562	blood:

Variant related genes	Relation type
ENSG00000266449	chromatin interactions

Extended variants
information (count: 803 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:803 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569818775	chr15:76879863-76879864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149186385	chr15:76879872-76879873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556618107	chr15:76879956-76879957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187044791	chr15:76879984-76879985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs578039098	chr15:76880015-76880016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2468117	chr15:76880060-76880061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549331845	chr15:76880069-76880070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569259311	chr15:76880085-76880086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534605143	chr15:76880108-76880109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554227910	chr15:76880139-76880140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531781969	chr15:76880144-76880145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572498467	chr15:76880163-76880164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543326682	chr15:76880188-76880189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561464372	chr15:76880196-76880197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576575090	chr15:76880237-76880238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377318110	chr15:76880268-76880269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543657463	chr15:76880301-76880302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552818119	chr15:76880303-76880304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571407491	chr15:76880326-76880327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533869256	chr15:76880390-76880391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113928574	chr15:76880402-76880403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558901830	chr15:76880430-76880431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529677370	chr15:76880437-76880438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs553628468	chr15:76880440-76880441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567193766	chr15:76880453-76880454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557585408	chr15:76880464-76880465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368587230	chr15:76880465-76880466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537205975	chr15:76880521-76880522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575862677	chr15:76880547-76880548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571683347	chr15:76880553-76880554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556085427	chr15:76880554-76880555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539111472	chr15:76880558-76880559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146846690	chr15:76880559-76880560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368468739	chr15:76880561-76880562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536690452	chr15:76880651-76880652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555197195	chr15:76880691-76880692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370606102	chr15:76880710-76880711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181526982	chr15:76880741-76880742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186269992	chr15:76880757-76880758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565359856	chr15:76880764-76880765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577052319	chr15:76880814-76880815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540711017	chr15:76880862-76880863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573184324	chr15:76880863-76880864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147955621	chr15:76880884-76880885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547882077	chr15:76880891-76880892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs367900512	chr15:76880900-76880901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4886818	chr15:76880939-76880940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs530732919	chr15:76880985-76880986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552471051	chr15:76881000-76881001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112614522	chr15:76881021-76881022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76869400-76881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:76870400-76881200	Weak transcription	Lung	lung
3	chr15:76871000-76883600	Weak transcription	Ovary	ovary
4	chr15:76874200-76881600	Weak transcription	Esophagus	oesophagus
5	chr15:76875600-76881600	Weak transcription	Primary B cells from cord blood	blood
6	chr15:76876000-76883600	Weak transcription	Aorta	Aorta
7	chr15:76877400-76883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:76878000-76881600	Weak transcription	Left Ventricle	heart
9	chr15:76878200-76884200	Weak transcription	Right Ventricle	heart
10	chr15:76878600-76881200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:76878800-76884800	Weak transcription	Primary T cells from cord blood	blood
12	chr15:76879200-76881200	Weak transcription	Fetal Stomach	stomach
13	chr15:76879400-76881600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:76879400-76881600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr15:76879400-76883400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:76879600-76881200	Weak transcription	Thymus	Thymus
17	chr15:76879600-76881400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr15:76879600-76881600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:76879600-76883400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr15:76879800-76881800	Weak transcription	Liver	Liver
21	chr15:76879800-76881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr15:76879800-76885600	Weak transcription	Pancreas	Pancrea
23	chr15:76880200-76883200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr15:76880400-76883200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:76880400-76883200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr15:76880400-76883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:76880600-76883200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr15:76880600-76883400	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:76881000-76881600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr15:76881000-76881600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr15:76881200-76881400	Enhancers	Duodenum Mucosa	Duodenum
32	chr15:76881200-76881800	Enhancers	Fetal Intestine Small	intestine
33	chr15:76881200-76882000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:76881200-76882000	ZNF genes & repeats	Lung	lung
35	chr15:76881200-76882400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:76881200-76882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:76881200-76882400	Enhancers	Fetal Intestine Large	intestine
38	chr15:76881200-76882400	Strong transcription	Fetal Stomach	stomach
39	chr15:76881200-76882600	Strong transcription	Thymus	Thymus
40	chr15:76881400-76881600	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr15:76881400-76881800	Active TSS	Colonic Mucosa	Colon
42	chr15:76881400-76882000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:76881400-76882200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr15:76881400-76882400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr15:76881400-76882400	Enhancers	NHEK	skin
46	chr15:76881600-76881800	Enhancers	Duodenum Mucosa	Duodenum
47	chr15:76881600-76882000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr15:76881600-76882000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr15:76881600-76882000	Enhancers	Left Ventricle	heart
50	chr15:76881600-76882000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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