Variant report

Variant	nsv984063
Chromosome Location	chr15:44276858-44282232
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143709598	chr15:44276948-44276949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192027420	chr15:44277004-44277005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182461234	chr15:44277018-44277019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185358396	chr15:44277077-44277078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552797324	chr15:44277121-44277122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150149854	chr15:44277136-44277137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190171286	chr15:44277137-44277138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138584215	chr15:44277145-44277146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149600435	chr15:44277146-44277147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571340203	chr15:44277160-44277161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10719107	chr15:44277181-44277182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71111831	chr15:44277193-44277194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144261436	chr15:44277201-44277202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs6493091	chr15:44277216-44277217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs182072899	chr15:44277256-44277257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141920810	chr15:44277338-44277339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575366191	chr15:44277340-44277341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187879739	chr15:44277428-44277429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561356974	chr15:44277454-44277455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369381245	chr15:44277479-44277480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34455065	chr15:44277502-44277503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573199389	chr15:44277536-44277537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78589548	chr15:44277539-44277540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540931152	chr15:44277543-44277544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540200059	chr15:44277576-44277577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560662715	chr15:44277614-44277615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146399075	chr15:44277708-44277709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552835835	chr15:44277778-44277779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569459900	chr15:44277791-44277792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531451833	chr15:44277816-44277817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114160208	chr15:44277833-44277834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76613522	chr15:44277854-44277855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139772992	chr15:44277881-44277882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368456506	chr15:44277882-44277883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs570441368	chr15:44277888-44277889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs539331206	chr15:44277896-44277897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375651980	chr15:44277905-44277906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs142965816	chr15:44277933-44277934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193092747	chr15:44277961-44277962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554724891	chr15:44277968-44277969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574866984	chr15:44277999-44278000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs376689130	chr15:44278017-44278018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540317252	chr15:44278062-44278063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544282867	chr15:44278112-44278113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs2412850	chr15:44278161-44278162	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs533356233	chr15:44278209-44278210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532892987	chr15:44278228-44278229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546487044	chr15:44278266-44278267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563074899	chr15:44278281-44278282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531898430	chr15:44278310-44278311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	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	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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Mental retardation	17124404	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44257400-44281000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr15:44259200-44285600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:44263000-44295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:44267400-44290600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:44268800-44290400	Weak transcription	Fetal Heart	heart
6	chr15:44269400-44278000	Weak transcription	Brain Anterior Caudate	brain
7	chr15:44269600-44278000	Weak transcription	Brain Substantia Nigra	brain
8	chr15:44269600-44283600	Weak transcription	Brain Angular Gyrus	brain
9	chr15:44269800-44291800	Weak transcription	NH-A	brain
10	chr15:44269800-44292200	Weak transcription	HMEC	breast
11	chr15:44270800-44278000	Weak transcription	GM12878-XiMat	blood
12	chr15:44274600-44281200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:44276200-44278600	Enhancers	Brain Hippocampus Middle	brain
14	chr15:44276200-44281800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:44276400-44287200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:44276400-44287800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:44276800-44278000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr15:44276800-44281200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:44276800-44281200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:44276800-44290800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:44277400-44292400	Weak transcription	NHLF	lung
22	chr15:44277800-44278600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:44278000-44278200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr15:44278000-44278400	Enhancers	GM12878-XiMat	blood
25	chr15:44278000-44278600	Enhancers	Brain Anterior Caudate	brain
26	chr15:44278000-44278600	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr15:44278000-44278800	Enhancers	Brain Substantia Nigra	brain
28	chr15:44278200-44295400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:44278400-44278600	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr15:44278400-44278600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr15:44278400-44278800	Flanking Active TSS	GM12878-XiMat	blood
32	chr15:44278600-44278800	Enhancers	Brain Cingulate Gyrus	brain
33	chr15:44278600-44279200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr15:44278600-44281600	Weak transcription	Brain Hippocampus Middle	brain
35	chr15:44278600-44283200	Weak transcription	Brain Anterior Caudate	brain
36	chr15:44278800-44279200	Weak transcription	Brain Substantia Nigra	brain
37	chr15:44278800-44285600	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:44278800-44287600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:44279200-44279400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr15:44279200-44279400	Enhancers	Brain Substantia Nigra	brain
41	chr15:44279200-44281200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr15:44279400-44281800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:44279400-44283200	Weak transcription	Brain Substantia Nigra	brain
44	chr15:44279800-44290600	Weak transcription	NHEK	skin
45	chr15:44280400-44292400	Weak transcription	Right Ventricle	heart
46	chr15:44281000-44282000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr15:44281200-44281800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr15:44281200-44282000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr15:44281200-44282400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:44281200-44282600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links