Variant report

Variant	nsv976923
Chromosome Location	chr15:41401287-41405069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41403941..41406164-chr15:41407398..41410541,4	MCF-7	breast:
2	chr15:41391555..41394241-chr15:41403159..41405692,2	K562	blood:
3	chr15:41404323..41407208-chr15:41574690..41577351,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC012652.1.1-8	chr15:41401076-41401376	NONHSAT041911

Variant related genes	Relation type
ENSG00000128908	chromatin interactions
ENSG00000247556	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80054936	chr15:41401296-41401297	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs192321383	chr15:41401324-41401325	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs182986420	chr15:41401340-41401341	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs529332018	chr15:41401402-41401403	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550580344	chr15:41401436-41401437	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563524594	chr15:41401449-41401450	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527530439	chr15:41401450-41401451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547576497	chr15:41401461-41401462	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570606384	chr15:41401467-41401468	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539737318	chr15:41401469-41401470	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549788153	chr15:41401510-41401511	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2928148	chr15:41401550-41401551	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs535543776	chr15:41401574-41401575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2928149	chr15:41401581-41401582	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs377685246	chr15:41401589-41401590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565789526	chr15:41401628-41401629	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534860905	chr15:41401654-41401655	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558520893	chr15:41401663-41401664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558354091	chr15:41401683-41401684	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558451357	chr15:41401687-41401688	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578161918	chr15:41401696-41401697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140936910	chr15:41401728-41401729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112024974	chr15:41401763-41401764	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567068417	chr15:41401766-41401767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544128534	chr15:41401773-41401774	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs556915215	chr15:41401847-41401848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188898446	chr15:41401857-41401858	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs193277973	chr15:41401881-41401882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559378225	chr15:41401896-41401897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370724674	chr15:41401917-41401918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540837943	chr15:41401930-41401931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564342725	chr15:41401935-41401936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370914201	chr15:41401963-41401964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28402335	chr15:41401984-41401985	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533058076	chr15:41402014-41402015	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375633814	chr15:41402055-41402056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550148806	chr15:41402065-41402066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569662325	chr15:41402101-41402102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528855128	chr15:41402106-41402107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185413079	chr15:41402108-41402109	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs565613390	chr15:41402116-41402117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578187934	chr15:41402129-41402130	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150032787	chr15:41402226-41402227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558052582	chr15:41402230-41402231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs66818965	chr15:41402279-41402280	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs530637857	chr15:41402289-41402290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78939365	chr15:41402291-41402292	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544086962	chr15:41402292-41402293	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537341264	chr15:41402301-41402302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557269084	chr15:41402395-41402396	Weak transcription Strong transcription	n/a	n/a	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
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
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:176 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41361200-41407200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:41383200-41406800	Weak transcription	A549	lung
3	chr15:41383800-41407400	Weak transcription	Esophagus	oesophagus
4	chr15:41384000-41407400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:41384400-41407400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:41385200-41406000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr15:41386200-41407400	Weak transcription	Aorta	Aorta
8	chr15:41386600-41407400	Weak transcription	Colonic Mucosa	Colon
9	chr15:41386800-41405400	Weak transcription	Spleen	Spleen
10	chr15:41386800-41406800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:41386800-41406800	Weak transcription	Right Ventricle	heart
12	chr15:41386800-41407000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:41386800-41407200	Weak transcription	HSMMtube	muscle
14	chr15:41386800-41407400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:41387200-41406000	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:41387200-41406600	Weak transcription	Pancreas	Pancrea
17	chr15:41387400-41407200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:41388000-41406600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:41388200-41406600	Weak transcription	Adipose Nuclei	Adipose
20	chr15:41388400-41406400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr15:41388600-41402200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:41388600-41404200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:41388600-41405600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr15:41388600-41405800	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:41388600-41406600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:41388600-41406600	Weak transcription	Ovary	ovary
27	chr15:41388600-41406600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr15:41388600-41406800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:41388600-41406800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr15:41388600-41406800	Weak transcription	Fetal Brain Female	brain
31	chr15:41388600-41406800	Weak transcription	Fetal Lung	lung
32	chr15:41388600-41407000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr15:41388600-41407000	Weak transcription	Fetal Kidney	kidney
34	chr15:41388600-41407200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:41388600-41407200	Weak transcription	Brain Anterior Caudate	brain
36	chr15:41388600-41407400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:41388800-41401400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:41388800-41402600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr15:41388800-41406200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:41388800-41406800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr15:41388800-41407000	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:41388800-41407000	Weak transcription	Fetal Intestine Large	intestine
43	chr15:41389000-41405800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr15:41389000-41406600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr15:41389000-41406800	Weak transcription	HMEC	breast
46	chr15:41389200-41406800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr15:41389400-41404000	Weak transcription	K562	blood
48	chr15:41389400-41405600	Weak transcription	Placenta	Placenta
49	chr15:41389800-41406800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:41391000-41407400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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