Variant report

Variant	nsv974723
Chromosome Location	chr15:59150255-59153172
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:59151321-59151392	Lung_OC	lung:	n/a	n/a
2	FAM48A	chr15:59150636-59150688	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:59150203..59152122-chr4:10117805..10120287,2	MCF-7	breast:
2	chr15:59144722..59148208-chr15:59148286..59151538,5	K562	blood:
3	chr15:59145262..59147109-chr15:59151611..59154178,2	K562	blood:
4	chr15:59146076..59151361-chr15:59223071..59227542,5	MCF-7	breast:
5	chr15:59150365..59151946-chr15:59158006..59159550,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF111-2	chr15:59152982-59154096	NONHSAT044134

No data

Variant related genes	Relation type
ZNF444P1	TF binding region
RNF111	TF binding region
ENSG00000137776	chromatin interactions
ENSG00000071127	chromatin interactions

Extended variants
information (count: 82 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541067362	chr15:59150370-59150371	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532227831	chr15:59150538-59150539	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs559406458	chr15:59150555-59150556	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577735272	chr15:59150596-59150597	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545162888	chr15:59150616-59150617	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs563739082	chr15:59150677-59150678	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531187459	chr15:59150734-59150735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs150138435	chr15:59150749-59150750	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs564081532	chr15:59150849-59150850	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs372515564	chr15:59150868-59150869	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs528876269	chr15:59150879-59150880	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs547441447	chr15:59150891-59150892	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs565754798	chr15:59150946-59150947	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539557445	chr15:59151007-59151008	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7162584	chr15:59151010-59151011	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs371404635	chr15:59151016-59151017	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138558672	chr15:59151136-59151137	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs537299590	chr15:59151228-59151229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs565673383	chr15:59151251-59151252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs534642032	chr15:59151259-59151260	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs183106498	chr15:59151261-59151262	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573632353	chr15:59151263-59151264	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs187500295	chr15:59151265-59151266	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs377579907	chr15:59151280-59151281	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552965620	chr15:59151285-59151286	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs533057581	chr15:59151314-59151315	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545174067	chr15:59151325-59151326	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs392739	chr15:59151333-59151334	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575737716	chr15:59151492-59151493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs74926492	chr15:59151503-59151504	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs548177543	chr15:59151535-59151536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs568217978	chr15:59151540-59151541	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs561398770	chr15:59151546-59151547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537371786	chr15:59151563-59151564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs573325426	chr15:59151600-59151601	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs528818688	chr15:59151632-59151633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs149329268	chr15:59151644-59151645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs192324740	chr15:59151778-59151779	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533013060	chr15:59151783-59151784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs79198733	chr15:59151884-59151885	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184763810	chr15:59151902-59151903	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs677933	chr15:59151916-59151917	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs549188645	chr15:59151943-59151944	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189486427	chr15:59151968-59151969	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs192219153	chr15:59151996-59151997	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552900665	chr15:59151998-59151999	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs147421424	chr15:59152022-59152023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs184540035	chr15:59152089-59152090	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375476553	chr15:59152115-59152116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs557157652	chr15:59152117-59152118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Lung cancer	19238632	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	19318576	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59067000-59157800	Weak transcription	Hela-S3	cervix
2	chr15:59077800-59153600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr15:59090200-59156600	Weak transcription	Small Intestine	intestine
4	chr15:59095200-59156800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:59103800-59157000	Weak transcription	Psoas Muscle	Psoas
6	chr15:59104000-59157000	Weak transcription	Esophagus	oesophagus
7	chr15:59104000-59157200	Weak transcription	NHLF	lung
8	chr15:59106000-59156800	Weak transcription	Lung	lung
9	chr15:59106200-59156800	Weak transcription	Ovary	ovary
10	chr15:59106200-59157000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr15:59106600-59157000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr15:59106800-59156400	Weak transcription	Fetal Kidney	kidney
13	chr15:59111800-59159600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:59120000-59169000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr15:59122000-59156400	Weak transcription	Fetal Heart	heart
16	chr15:59126000-59156600	Weak transcription	Right Ventricle	heart
17	chr15:59126200-59157000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:59126800-59151200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr15:59127200-59150400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr15:59127200-59156600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:59136000-59151800	Weak transcription	GM12878-XiMat	blood
22	chr15:59137200-59156800	Weak transcription	Spleen	Spleen
23	chr15:59138200-59156400	Weak transcription	Brain Substantia Nigra	brain
24	chr15:59138200-59156800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr15:59138400-59155800	Weak transcription	Fetal Brain Male	brain
26	chr15:59140000-59155000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:59140600-59153600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:59140600-59154200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr15:59140600-59154200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr15:59140600-59154200	Weak transcription	Brain Angular Gyrus	brain
31	chr15:59140600-59156400	Weak transcription	Liver	Liver
32	chr15:59140600-59156800	Weak transcription	Primary B cells from cord blood	blood
33	chr15:59140600-59156800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr15:59140600-59156800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:59140800-59154200	Weak transcription	NHEK	skin
36	chr15:59140800-59156800	Weak transcription	Fetal Lung	lung
37	chr15:59141600-59154200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:59141800-59156800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:59142600-59156800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr15:59142800-59157000	Weak transcription	Brain Germinal Matrix	brain
41	chr15:59143000-59154200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:59143200-59156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr15:59144200-59156400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr15:59144400-59156400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr15:59144400-59156600	Weak transcription	Fetal Muscle Leg	muscle
46	chr15:59144400-59156800	Weak transcription	Thymus	Thymus
47	chr15:59144400-59157000	Weak transcription	Aorta	Aorta
48	chr15:59144400-59157000	Weak transcription	Fetal Brain Female	brain
49	chr15:59144400-59157000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:59144800-59157000	Weak transcription	Placenta Amnion	Placenta Amnion

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