Variant report

Variant	nsv974494
Chromosome Location	chr15:40440073-40444446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40388597..40390833-chr15:40440085..40442294,2	K562	blood:
2	chr15:40441619..40444532-chr15:40445691..40448469,3	K562	blood:
3	chr15:40441619..40443769-chr15:40446969..40449341,2	K562	blood:
4	chr15:40440789..40442524-chr15:40442904..40444462,2	K562	blood:
5	chr15:40440789..40442524-chr15:40442904..40444462,2	K562	blood:
6	chr15:40437357..40438931-chr15:40442265..40443877,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142404347	chr15:40440106-40440107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs371533773	chr15:40440149-40440150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568548549	chr15:40440156-40440157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10518681	chr15:40440164-40440165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs576125149	chr15:40440264-40440265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185416628	chr15:40440301-40440302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73392673	chr15:40440368-40440369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs544561487	chr15:40440375-40440376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138358371	chr15:40440411-40440412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189790756	chr15:40440469-40440470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112615567	chr15:40440491-40440492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs488318	chr15:40440518-40440519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs12902191	chr15:40440563-40440564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs540425860	chr15:40440574-40440575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs35225198	chr15:40440602-40440603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs115767792	chr15:40440615-40440616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532670333	chr15:40440673-40440674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114019153	chr15:40440766-40440767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538801920	chr15:40440831-40440832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377007898	chr15:40440935-40440936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569254611	chr15:40440945-40440946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144480182	chr15:40440950-40440951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369667225	chr15:40440986-40440987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548593907	chr15:40441008-40441009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181334916	chr15:40441013-40441014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553859351	chr15:40441015-40441016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534084131	chr15:40441017-40441018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554352147	chr15:40441042-40441043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139691874	chr15:40441043-40441044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538367428	chr15:40441086-40441087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558258755	chr15:40441188-40441189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574878304	chr15:40441259-40441260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16970409	chr15:40441260-40441261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs185603536	chr15:40441284-40441285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574686525	chr15:40441327-40441328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143611900	chr15:40441367-40441368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554692075	chr15:40441378-40441379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560318809	chr15:40441391-40441392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532377361	chr15:40441444-40441445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576369536	chr15:40441477-40441478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546306967	chr15:40441486-40441487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191603669	chr15:40441489-40441490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563013961	chr15:40441493-40441494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531731785	chr15:40441519-40441520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548563548	chr15:40441557-40441558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562202155	chr15:40441560-40441561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs796389	chr15:40441620-40441621	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs76140062	chr15:40441627-40441628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570689247	chr15:40441631-40441632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539679143	chr15:40441638-40441639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Pancreatic cancer	17952125	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Non-syndromic sensorineural hearing loss	22150418	CNVD
Autosomal-recessive limb girdle muscular dystrophy	22150418	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40428600-40442200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:40437400-40442200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40438400-40442200	Weak transcription	Hela-S3	cervix
4	chr15:40438400-40446800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:40438600-40442000	Weak transcription	HSMMtube	muscle
6	chr15:40438600-40442200	Weak transcription	NH-A	brain
7	chr15:40438800-40442200	Weak transcription	A549	lung
8	chr15:40438800-40442200	Weak transcription	HSMM	muscle
9	chr15:40438800-40446800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:40439200-40441800	Weak transcription	HMEC	breast
11	chr15:40439200-40441800	Weak transcription	NHEK	skin
12	chr15:40439200-40442000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:40440000-40441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr15:40440000-40442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr15:40440200-40446800	Weak transcription	Pancreas	Pancrea
16	chr15:40441800-40445000	Enhancers	HMEC	breast
17	chr15:40441800-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:40441800-40445200	Enhancers	NHEK	skin
19	chr15:40442000-40442200	Enhancers	HSMMtube	muscle
20	chr15:40442000-40443200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr15:40442000-40443400	Enhancers	Brain Germinal Matrix	brain
22	chr15:40442000-40443400	Enhancers	Fetal Muscle Leg	muscle
23	chr15:40442000-40444400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:40442000-40445200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:40442200-40442400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr15:40442200-40442400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:40442200-40442400	Enhancers	Hela-S3	cervix
28	chr15:40442200-40442400	Flanking Active TSS	HSMMtube	muscle
29	chr15:40442200-40442600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr15:40442200-40442600	Enhancers	HSMM	muscle
31	chr15:40442200-40443000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:40442200-40443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr15:40442200-40443000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:40442200-40443000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:40442200-40443000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:40442200-40443000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:40442200-40443000	Enhancers	Stomach Mucosa	stomach
38	chr15:40442200-40443000	Enhancers	A549	lung
39	chr15:40442200-40443200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr15:40442200-40443200	Enhancers	NH-A	brain
41	chr15:40442200-40443600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:40442200-40443600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:40442200-40444200	Enhancers	Psoas Muscle	Psoas
44	chr15:40442200-40444400	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr15:40442400-40442600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:40442400-40442600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr15:40442400-40442600	Enhancers	HSMMtube	muscle
48	chr15:40442400-40442800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr15:40442400-40442800	Enhancers	Fetal Heart	heart
50	chr15:40442400-40442800	Flanking Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links