Variant report

Variant	nsv984093
Chromosome Location	chr15:76164797-76168564
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:76164767-76165045	K562	blood:	n/a	n/a
2	CUX1	chr15:76165106-76165242	K562	blood:	n/a	n/a
3	E2F4	chr15:76165199-76165397	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr15:76164801-76165063	K562	blood:	n/a	n/a
5	GATA1	chr15:76164127-76165332	PBDE	blood:	n/a	n/a
6	GATA2	chr15:76164829-76165061	K562	blood:	n/a	n/a
7	IRF1	chr15:76167419-76167460	K562	blood:	n/a	n/a
8	MAZ	chr15:76166185-76166245	K562	blood:	n/a	n/a
9	MYC	chr15:76164987-76164990	K562	blood:	n/a	n/a
10	MYC	chr15:76166371-76166407	K562	blood:	n/a	n/a
11	POLR2A	chr15:76166070-76166274	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:76166177-76166353	K562	blood:	n/a	n/a
13	POLR2A	chr15:76167689-76167851	ProgFib	skin:	n/a	n/a
14	RCOR1	chr15:76164807-76165043	K562	blood:	n/a	n/a
15	STAT3	chr15:76167486-76167863	MCF10A-Er-Src	breast:	n/a	chr15:76167771-76167782
16	TAL1	chr15:76164793-76165181	K562	blood:	n/a	n/a
17	TEAD4	chr15:76164853-76165172	K562	blood:	n/a	n/a
18	ZNF384	chr15:76164506-76165192	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:76160135..76162461-chr15:76165761..76167464,2	MCF-7	breast:
2	chr15:76135341..76137151-chr15:76165661..76168140,3	MCF-7	breast:
3	chr15:76167386..76170253-chr15:76181012..76182661,2	K562	blood:

No data

Variant related genes	Relation type
UBE2Q2	TF binding region
ENSG00000140367	chromatin interactions

Extended variants
information (count: 138 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181397653	chr15:76164800-76164801	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371296076	chr15:76164859-76164860	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375905506	chr15:76164863-76164864	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369755727	chr15:76164868-76164869	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374099581	chr15:76164874-76164875	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7496351	chr15:76164885-76164886	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34101559	chr15:76164895-76164896	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2460800	chr15:76164951-76164952	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs184344663	chr15:76164952-76164953	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs533005395	chr15:76164979-76164980	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551165876	chr15:76164981-76164982	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74331719	chr15:76165019-76165020	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527560509	chr15:76165022-76165023	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189565108	chr15:76165086-76165087	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181570946	chr15:76165125-76165126	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185886796	chr15:76165145-76165146	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547447729	chr15:76165183-76165184	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62028932	chr15:76165191-76165192	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs148457897	chr15:76165219-76165220	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569335095	chr15:76165224-76165225	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs367569213	chr15:76165239-76165240	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539995732	chr15:76165263-76165264	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12438642	chr15:76165277-76165278	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549561664	chr15:76165279-76165280	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373434921	chr15:76165346-76165347	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558396955	chr15:76165347-76165348	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573550669	chr15:76165447-76165448	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191133878	chr15:76165480-76165481	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555328438	chr15:76165510-76165511	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569446915	chr15:76165561-76165562	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573598177	chr15:76165565-76165566	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529201190	chr15:76165575-76165576	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35656041	chr15:76165586-76165587	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs532873399	chr15:76165644-76165645	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569020108	chr15:76165700-76165701	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557927815	chr15:76165731-76165732	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs368980638	chr15:76165757-76165758	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559941733	chr15:76165765-76165766	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs139532885	chr15:76165795-76165796	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371805905	chr15:76165812-76165813	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs151262694	chr15:76165829-76165830	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376052554	chr15:76165913-76165914	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs375072111	chr15:76165915-76165916	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs369848940	chr15:76165945-76165946	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs549047645	chr15:76165999-76166000	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568439288	chr15:76166017-76166018	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs529223282	chr15:76166047-76166048	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs140503234	chr15:76166068-76166069	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs550958853	chr15:76166090-76166091	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs569337546	chr15:76166102-76166103	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	21364760	CNVD
XY gonadal dysgenesis	20685758	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD

Chromatin state (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76137200-76166200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:76137600-76165000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr15:76137800-76165800	Weak transcription	Liver	Liver
4	chr15:76137800-76166000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:76137800-76188400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:76138000-76179600	Weak transcription	Small Intestine	intestine
7	chr15:76138200-76166000	Weak transcription	Aorta	Aorta
8	chr15:76138200-76166000	Weak transcription	Colon Smooth Muscle	Colon
9	chr15:76138200-76166000	Weak transcription	Pancreas	Pancrea
10	chr15:76138200-76166000	Weak transcription	Spleen	Spleen
11	chr15:76138200-76183000	Weak transcription	Hela-S3	cervix
12	chr15:76138200-76195200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:76138200-76195400	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:76138400-76184000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:76138800-76166000	Weak transcription	Esophagus	oesophagus
16	chr15:76138800-76169200	Weak transcription	Psoas Muscle	Psoas
17	chr15:76140000-76165800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr15:76140000-76184000	Weak transcription	Fetal Kidney	kidney
19	chr15:76140400-76166000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:76140600-76165600	Weak transcription	Fetal Brain Male	brain
21	chr15:76141400-76195200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr15:76141600-76166000	Weak transcription	NHLF	lung
23	chr15:76144800-76165800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr15:76145200-76195200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr15:76146200-76166000	Weak transcription	Right Ventricle	heart
26	chr15:76146400-76166000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr15:76146400-76166000	Weak transcription	Lung	lung
28	chr15:76148400-76166000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:76149000-76195600	Weak transcription	Colonic Mucosa	Colon
30	chr15:76149400-76166000	Weak transcription	Fetal Intestine Small	intestine
31	chr15:76151800-76166000	Weak transcription	HUVEC	blood vessel
32	chr15:76152800-76193400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:76153400-76168800	Weak transcription	Brain Substantia Nigra	brain
34	chr15:76154400-76165800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr15:76154400-76166000	Weak transcription	NHDF-Ad	bronchial
36	chr15:76155600-76166000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr15:76155800-76165800	Weak transcription	Fetal Brain Female	brain
38	chr15:76155800-76165800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr15:76155800-76166400	Weak transcription	HepG2	liver
40	chr15:76156400-76165800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:76158200-76166000	Weak transcription	Primary T cells from cord blood	blood
42	chr15:76158600-76165800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr15:76159400-76166200	Weak transcription	A549	lung
44	chr15:76159600-76166000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr15:76159800-76165800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:76159800-76166000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:76159800-76195400	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:76160400-76165800	Weak transcription	Brain Angular Gyrus	brain
49	chr15:76160800-76176000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:76161000-76182200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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