Variant report

Variant	nsv569521
Chromosome Location	chr15:55400649-55466155
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:29)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55462838..55463684-chr15:55582353..55582908,2	K562	blood:
2	chr15:54374784..54375687-chr15:55460665..55461171,2	MCF-7	breast:
3	chr15:55400665..55401788-chr15:55460662..55461217,3	MCF-7	breast:
4	chr15:55400665..55401788-chr15:55460662..55461217,3	MCF-7	breast:
5	chr15:55463428..55465333-chr15:55485353..55487968,3	K562	blood:
6	chr15:55327650..55328589-chr15:55400979..55401484,2	MCF-7	breast:
7	chr15:54254851..54255818-chr15:55460244..55461151,4	MCF-7	breast:
8	chr15:55455906..55459673-chr15:55485986..55489439,4	K562	blood:
9	chr15:55456344..55458514-chr15:55459219..55462233,3	K562	blood:
10	chr15:55416875..55419348-chr15:55422802..55424971,2	K562	blood:
11	chr15:55408942..55409666-chr15:55460289..55461154,2	MCF-7	breast:
12	chr15:54374868..54376175-chr15:55400827..55401744,4	MCF-7	breast:
13	chr15:54254831..54255689-chr15:55400781..55401468,2	MCF-7	breast:
14	chr15:55456344..55458514-chr15:55459219..55462233,3	K562	blood:
15	chr15:55307832..55310614-chr15:55419822..55421871,2	K562	blood:
16	chr15:55441978..55444770-chr15:55453903..55455710,2	K562	blood:
17	chr15:55400894..55401490-chr15:65197977..65198492,2	MCF-7	breast:
18	chr15:55416875..55419348-chr15:55422802..55424971,2	K562	blood:
19	chr15:55416875..55420623-chr15:55422802..55424971,3	K562	blood:
20	chr15:54375029..54375976-chr15:55400805..55401778,3	MCF-7	breast:
21	chr15:54268886..54269434-chr15:55400990..55401709,2	MCF-7	breast:
22	chr15:54268785..54269712-chr15:55460337..55461244,4	MCF-7	breast:
23	chr15:54268702..54269681-chr15:55400788..55401575,2	MCF-7	breast:
24	chr15:55441978..55444770-chr15:55453903..55455710,2	K562	blood:
25	chr15:55456931..55459282-chr15:55487662..55489408,2	K562	blood:
26	chr15:55416875..55420623-chr15:55422802..55424971,3	K562	blood:
27	chr10:13366886..13368696-chr15:55465125..55467342,2	MCF-7	breast:
28	chr15:55327619..55328387-chr15:55460369..55461213,2	MCF-7	breast:
29	chr15:55408942..55409666-chr15:55460289..55461154,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSL24D1-1	chr15:55464171-55468937	ENSG00000248800
2	lnc-PIGB-3	chr15:55402395-55402617	l_1161_chr15:55398420-55404514_testes
3	lnc-PIGB-2	chr15:55456636-55456655	ucscGeneNc_uc002aeh_2
4	lnc-PIGB-3	chr15:55404340-55404514	l_1161_chr15:55398420-55404514_testes
5	lnc-PIGB-3	chr15:55403336-55403422	l_1161_chr15:55398420-55404514_testes

No data

Variant related genes	Relation type
ENSG00000137876	chromatin interactions
ENSG00000259669	chromatin interactions
ANKRD17	miRNA target sites

Extended variants
information (count: 1364 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1364 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs505918	chr15:55400649-55400650	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112471220	chr15:55400655-55400656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183383994	chr15:55400659-55400660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147369339	chr15:55400673-55400674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562843813	chr15:55400685-55400686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186787340	chr15:55400692-55400693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551549647	chr15:55400709-55400710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs16975936	chr15:55400872-55400873	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs544231844	chr15:55400873-55400874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113024423	chr15:55400901-55400902	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs17818988	chr15:55400941-55400942	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11071165	chr15:55400961-55400962	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs567616385	chr15:55400968-55400969	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113535268	chr15:55400989-55400990	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs536654856	chr15:55400994-55400995	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538688822	chr15:55401010-55401011	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs558898485	chr15:55401018-55401019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550246660	chr15:55401063-55401064	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569164535	chr15:55401076-55401077	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs146834197	chr15:55401093-55401094	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs34131059	chr15:55401095-55401096	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376497261	chr15:55401096-55401097	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs538178428	chr15:55401103-55401104	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138221820	chr15:55401104-55401105	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs557913807	chr15:55401108-55401109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs373142995	chr15:55401132-55401133	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs58050454	chr15:55401135-55401136	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
28	rs200928416	chr15:55401143-55401144	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200515396	chr15:55401144-55401145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs56734801	chr15:55401145-55401146	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370319426	chr15:55401153-55401154	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs67719291	chr15:55401154-55401155	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545876813	chr15:55401155-55401156	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs28668526	chr15:55401161-55401162	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs58968569	chr15:55401164-55401165	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372783496	chr15:55401175-55401176	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375868066	chr15:55401176-55401177	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs66936070	chr15:55401177-55401178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs58717705	chr15:55401185-55401186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs544716338	chr15:55401258-55401259	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553598413	chr15:55401274-55401275	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs573257545	chr15:55401285-55401286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs542210351	chr15:55401332-55401333	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs562182882	chr15:55401336-55401337	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs116593570	chr15:55401338-55401339	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373166431	chr15:55401341-55401342	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs144463315	chr15:55401361-55401362	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73404027	chr15:55401369-55401370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs565447881	chr15:55401375-55401376	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs77699560	chr15:55401444-55401445	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495309	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55399800-55401000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:55400200-55401000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:55400200-55401000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr15:55400400-55400800	Enhancers	Right Atrium	heart
5	chr15:55400400-55401000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:55400400-55401000	Enhancers	Brain Germinal Matrix	brain
7	chr15:55400400-55401000	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr15:55400400-55401000	Enhancers	Fetal Kidney	kidney
9	chr15:55400400-55401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:55400400-55401800	Enhancers	K562	blood
11	chr15:55400600-55400800	Enhancers	Brain Cingulate Gyrus	brain
12	chr15:55400600-55400800	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr15:55400600-55401000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:55400600-55401000	Enhancers	Fetal Muscle Leg	muscle
15	chr15:55400600-55401600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:55400600-55401800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:55400600-55402600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:55400800-55401400	Enhancers	NHEK	skin
19	chr15:55400800-55401600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:55401000-55406200	Weak transcription	Fetal Muscle Leg	muscle
21	chr15:55401400-55402400	Enhancers	HepG2	liver
22	chr15:55402600-55403000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr15:55404800-55405200	Enhancers	Fetal Lung	lung
24	chr15:55405000-55405800	Enhancers	Fetal Muscle Trunk	muscle
25	chr15:55405200-55416800	Weak transcription	Fetal Lung	lung
26	chr15:55406200-55406400	Enhancers	Fetal Muscle Leg	muscle
27	chr15:55407400-55407800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr15:55409000-55409200	Enhancers	Fetal Kidney	kidney
29	chr15:55409200-55410600	Weak transcription	Fetal Kidney	kidney
30	chr15:55410400-55410800	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr15:55410600-55410800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr15:55410600-55411200	Enhancers	Fetal Kidney	kidney
33	chr15:55410600-55411400	Enhancers	Psoas Muscle	Psoas
34	chr15:55412800-55413000	Enhancers	Fetal Kidney	kidney
35	chr15:55412800-55413200	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr15:55413000-55413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:55416400-55416800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr15:55416800-55417400	Enhancers	Fetal Lung	lung
39	chr15:55421000-55421800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr15:55421400-55421800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:55426800-55427200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr15:55427400-55427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr15:55427400-55427800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr15:55427600-55428200	ZNF genes & repeats	Spleen	Spleen
45	chr15:55442400-55445000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:55446600-55446800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:55455400-55455600	Enhancers	Aorta	Aorta
48	chr15:55455600-55469600	Weak transcription	Aorta	Aorta
49	chr15:55455800-55487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr15:55456200-55456400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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