Variant report

Variant	nsv520769
Chromosome Location	chr15:59371663-59375103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:59374083-59374261	HepG2	liver:	n/a	chr15:59374170-59374181
2	POLR2A	chr15:59373415-59373922	K562	blood:	n/a	n/a
3	POLR2A	chr15:59373333-59373470	A549	lung:	n/a	n/a
4	POLR2A	chr15:59371951-59371955	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr15:59371963-59372229	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr15:59374175-59374233	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:59374032-59374265	K562	blood:	n/a	n/a
8	POLR2A	chr15:59372374-59372476	ProgFib	skin:	n/a	n/a
9	POLR2A	chr15:59374266-59374426	K562	blood:	n/a	n/a
10	POLR2A	chr15:59373908-59374286	HepG2	liver:	n/a	n/a
11	STAT3	chr15:59374207-59374228	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59370260..59372211-chr15:59377170..59378882,2	K562	blood:

Variant related genes	Relation type
RNF111	TF binding region
ENSG00000157450	chromatin interactions

Extended variants
information (count: 140 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:140 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11636707	chr15:59371663-59371664	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs559565023	chr15:59371685-59371686	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184114576	chr15:59371793-59371794	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186681244	chr15:59371818-59371819	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570330732	chr15:59371820-59371821	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548477002	chr15:59371832-59371833	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs28733679	chr15:59371844-59371845	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs36057944	chr15:59371855-59371856	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs191341411	chr15:59371965-59371966	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs549527054	chr15:59371973-59371974	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs183928520	chr15:59371984-59371985	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs568130504	chr15:59372000-59372001	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs386784466	chr15:59372028-59372029	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs60741546	chr15:59372030-59372031	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187131045	chr15:59372048-59372049	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs28398210	chr15:59372064-59372065	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs536286905	chr15:59372105-59372106	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376895453	chr15:59372112-59372113	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs191949197	chr15:59372113-59372114	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs73418820	chr15:59372115-59372116	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576272808	chr15:59372138-59372139	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs543756320	chr15:59372156-59372157	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184991286	chr15:59372171-59372172	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs368179840	chr15:59372176-59372177	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs541167496	chr15:59372209-59372210	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559504581	chr15:59372216-59372217	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs533603375	chr15:59372275-59372276	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545294679	chr15:59372276-59372277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563975222	chr15:59372312-59372313	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531121882	chr15:59372313-59372314	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549753506	chr15:59372350-59372351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561715106	chr15:59372356-59372357	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528991728	chr15:59372359-59372360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190268506	chr15:59372366-59372367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565657948	chr15:59372369-59372370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539582336	chr15:59372407-59372408	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181960531	chr15:59372429-59372430	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs539838534	chr15:59372460-59372461	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs536991951	chr15:59372504-59372505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185763750	chr15:59372508-59372509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556464356	chr15:59372516-59372517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs8035850	chr15:59372562-59372563	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs113083442	chr15:59372566-59372567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578046795	chr15:59372569-59372570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62002554	chr15:59372666-59372667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542124202	chr15:59372751-59372752	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577756378	chr15:59372753-59372754	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556046310	chr15:59372805-59372806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545213559	chr15:59372814-59372815	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575725441	chr15:59372825-59372826	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
Mental retardation	17124404	CNVD

Chromatin state (count:273 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59344400-59392800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:59350800-59384600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:59351000-59373200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:59354000-59373200	Weak transcription	Small Intestine	intestine
5	chr15:59354000-59390600	Strong transcription	Primary B cells from peripheral blood	blood
6	chr15:59354400-59396800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:59355200-59373200	Weak transcription	Psoas Muscle	Psoas
8	chr15:59355400-59373000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr15:59355400-59392800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr15:59355600-59373200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:59355600-59378400	Strong transcription	Osteobl	bone
12	chr15:59355600-59392800	Strong transcription	Liver	Liver
13	chr15:59355600-59396600	Weak transcription	Fetal Heart	heart
14	chr15:59355800-59386800	Weak transcription	Stomach Mucosa	stomach
15	chr15:59356200-59375400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:59359400-59373200	Weak transcription	Aorta	Aorta
17	chr15:59359400-59396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:59359600-59373000	Weak transcription	Colonic Mucosa	Colon
19	chr15:59359600-59373200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:59359600-59373200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:59359800-59373000	Weak transcription	Esophagus	oesophagus
22	chr15:59359800-59373000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:59359800-59373200	Weak transcription	Lung	lung
24	chr15:59359800-59373200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr15:59359800-59373200	Weak transcription	Right Ventricle	heart
26	chr15:59359800-59373200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:59360000-59373200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr15:59360200-59373200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr15:59360400-59373200	Weak transcription	Pancreas	Pancrea
30	chr15:59360400-59373200	Weak transcription	Spleen	Spleen
31	chr15:59360800-59373200	Weak transcription	NHLF	lung
32	chr15:59361200-59373000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:59361200-59373200	Weak transcription	Gastric	stomach
34	chr15:59362800-59373200	Weak transcription	Fetal Kidney	kidney
35	chr15:59363000-59372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:59363200-59373000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:59363200-59373200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr15:59363200-59373200	Weak transcription	HepG2	liver
39	chr15:59363800-59373000	Weak transcription	Thymus	Thymus
40	chr15:59364000-59373000	Weak transcription	NHEK	skin
41	chr15:59364800-59392600	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:59365200-59377200	Strong transcription	Dnd41	blood
43	chr15:59365400-59373400	Weak transcription	Fetal Brain Male	brain
44	chr15:59365400-59378000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:59365600-59373200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:59365800-59372400	Weak transcription	Fetal Intestine Small	intestine
47	chr15:59365800-59372400	Weak transcription	Fetal Stomach	stomach
48	chr15:59365800-59373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:59365800-59373200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr15:59365800-59373200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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