Variant report

Variant	nsv1040711
Chromosome Location	chr15:76878362-76902257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:76881460-76881610	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr15:76881511-76881568	MCF-7	breast:	n/a	n/a
3	CTCF	chr15:76900763-76900839	MCF-7	breast:	n/a	n/a
4	CTCF	chr15:76881520-76881670	WERI-Rb-1	eye:	n/a	n/a
5	CTCF	chr15:76882560-76882710	NHEK	skin:	n/a	n/a
6	CTCF	chr15:76881508-76881622	Pancreas_OC	pancreas:	n/a	n/a
7	CTCF	chr15:76881453-76881628	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:76900782-76900839	MCF-7	breast:	n/a	n/a
9	CTCF	chr15:76881300-76881450	NHEK	skin:	n/a	n/a
10	CTCF	chr15:76881380-76881530	NHEK	skin:	n/a	n/a
11	CTCF	chr15:76881480-76881630	MCF-7	breast:	n/a	n/a
12	CTCF	chr15:76881480-76881630	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr15:76881440-76881590	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr15:76881480-76881630	HepG2	liver:	n/a	n/a
15	CTCF	chr15:76900780-76900838	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:76881400-76881550	Caco-2	colon:	n/a	n/a
17	CTCF	chr15:76881400-76881550	HEK293	kidney:	n/a	n/a
18	CTCF	chr15:76900797-76900818	MCF-7	breast:	n/a	n/a
19	FOXA2	chr15:76900721-76901342	A549	lung:	n/a	n/a
20	GATA3	chr15:76883261-76883422	SH-SY5Y	brain:	n/a	n/a
21	MYC	chr15:76881873-76881952	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr15:76895856-76895943	ProgFib	skin:	n/a	n/a
23	POLR2A	chr15:76884234-76884374	MCF-7	breast:	n/a	n/a
24	POLR2A	chr15:76881795-76881944	MCF-7	breast:	n/a	n/a
25	POLR2A	chr15:76881790-76881791	MCF-7	breast:	n/a	n/a
26	RAD21	chr15:76881428-76881536	HepG2	liver:	n/a	n/a
27	RAD21	chr15:76881379-76881726	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76901065-76901115	RPTEC	kidney:	n/a
2	chr15:76901065-76901115	SKMC	muscle:	n/a
3	chr15:76901065-76901115	HepG2	liver:	n/a
4	chr15:76901065-76901115	Hela-S3	cervix:	n/a
5	chr15:76901065-76901115	T-47D	breast:	n/a
6	chr15:76901065-76901115	HAEpiC	amniotic membrane:	n/a
7	chr15:76901065-76901115	MCF10A-Er-Src	breast:	n/a
8	chr15:76901065-76901115	Caco-2	colon:	n/a
9	chr15:76901065-76901115	Hepatocyte	liver:	n/a
10	chr15:76901065-76901115	GM12891	blood:	n/a
11	chr15:76901065-76901115	HEK293	kidney:	embryo
12	chr15:76901065-76901115	CMK	blood:	n/a
13	chr15:76901065-76901115	HCF	heart:	n/a
14	chr15:76901065-76901115	SAEC	small airway:	n/a
15	chr15:76901065-76901115	PrEC	prostate:	n/a
16	chr15:76901065-76901115	HRPEpiC	eye:	n/a
17	chr15:76901065-76901115	HIPEpiC	eye:	n/a
18	chr15:76901065-76901115	HCT-116	colon:	n/a
19	chr15:76901065-76901115	K562	blood:	n/a
20	chr15:76901065-76901115	U87	brain:	n/a
21	chr15:76901065-76901115	PANC-1	pancreas:	n/a
22	chr15:76901065-76901115	HCPEpiC	choroid plexus:	n/a
23	chr15:76901065-76901115	AG04449	skin:	fetal
24	chr15:76901065-76901115	LNCaP	prostate:	n/a
25	chr15:76901065-76901115	AG04450	lung:	fetal
26	chr15:76901065-76901115	BJ	skin:	n/a
27	chr15:76901065-76901115	AG10803	skin:	n/a
28	chr15:76901065-76901115	SK-N-SH_RA	brain:	n/a
29	chr15:76901065-76901115	AoSMC	blood vessel:	n/a
30	chr15:76901065-76901115	BE2_C	brain:	n/a
31	chr15:76901065-76901115	NB4	blood:	n/a
32	chr15:76901065-76901115	HMEC	breast:	n/a
33	chr15:76901065-76901115	HRE	kidney:	n/a
34	chr15:76901065-76901115	Jurkat	blood:	n/a
35	chr15:76901065-76901115	NHDF-neo	bronchial:	n/a
36	chr15:76901065-76901115	HCM	heart:	n/a
37	chr15:76901065-76901115	NHBE	bronchial:	n/a
38	chr15:76901065-76901115	IMR90	lung:	fetal
39	chr15:76901065-76901115	GM19239	blood:	n/a
40	chr15:76901065-76901115	ECC-1	luminal epithelium:	n/a
41	chr15:76901065-76901115	HUVEC	blood vessel:	n/a
42	chr15:76901065-76901115	SK-N-SH	brain:	n/a
43	chr15:76901065-76901115	HRCEpiC	kidney:	n/a
44	chr15:76901065-76901115	HEEpiC	esophagus:	n/a
45	chr15:76901065-76901115	HL-60	blood:	n/a
46	chr15:76901065-76901115	NH-A	brain:	n/a
47	chr15:76901065-76901115	SK-N-MC	brain:	n/a
48	chr15:76901065-76901115	ProgFib	skin:	n/a
49	chr15:76901065-76901115	NT2-D1	testis:	n/a
50	chr15:76901065-76901115	GM12878	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76877558..76879609-chr15:76881319..76882907,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3713	chr15:76878988-76879007	MIMAT0018164

No data

Variant related genes	Relation type
MIR3713	TF binding region
MIR3713	CpG island
ENSG00000266449	chromatin interactions

Extended variants
information (count: 865 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:865 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16968382	chr15:76878362-76878363	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570075508	chr15:76878370-76878371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373818064	chr15:76878429-76878430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35092729	chr15:76878438-76878439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555395244	chr15:76878453-76878454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367660128	chr15:76878491-76878492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373957468	chr15:76878501-76878502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191854026	chr15:76878507-76878508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202180826	chr15:76878552-76878553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184925099	chr15:76878604-76878605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536750723	chr15:76878609-76878610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148656884	chr15:76878690-76878691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576051929	chr15:76878800-76878801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35434791	chr15:76878815-76878816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560810576	chr15:76878822-76878823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62030414	chr15:76878852-76878853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527887890	chr15:76878933-76878934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544490269	chr15:76878938-76878939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188989243	chr15:76878941-76878942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79978230	chr15:76878948-76878949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531455365	chr15:76878984-76878985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73455174	chr15:76879042-76879043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs77821039	chr15:76879067-76879068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538294616	chr15:76879081-76879082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199500750	chr15:76879105-76879106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141775583	chr15:76879119-76879120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs565640967	chr15:76879167-76879168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146267389	chr15:76879181-76879182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2469243	chr15:76879239-76879240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs373000473	chr15:76879252-76879253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115341377	chr15:76879283-76879284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544672747	chr15:76879313-76879314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556419522	chr15:76879434-76879435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577963481	chr15:76879448-76879449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545468502	chr15:76879452-76879453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143587037	chr15:76879454-76879455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55666147	chr15:76879455-76879456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs543212450	chr15:76879463-76879464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561509221	chr15:76879495-76879496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531843075	chr15:76879497-76879498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549838344	chr15:76879501-76879502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180990581	chr15:76879538-76879539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139258599	chr15:76879592-76879593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150001337	chr15:76879627-76879628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371128666	chr15:76879644-76879645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192580869	chr15:76879657-76879658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559030887	chr15:76879668-76879669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565604951	chr15:76879804-76879805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536164551	chr15:76879808-76879809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145265547	chr15:76879844-76879845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76869400-76881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:76870400-76881200	Weak transcription	Lung	lung
3	chr15:76871000-76883600	Weak transcription	Ovary	ovary
4	chr15:76874200-76881600	Weak transcription	Esophagus	oesophagus
5	chr15:76875600-76881600	Weak transcription	Primary B cells from cord blood	blood
6	chr15:76876000-76883600	Weak transcription	Aorta	Aorta
7	chr15:76877200-76879200	Enhancers	Fetal Heart	heart
8	chr15:76877400-76883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr15:76878000-76881600	Weak transcription	Left Ventricle	heart
10	chr15:76878200-76884200	Weak transcription	Right Ventricle	heart
11	chr15:76878600-76881200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:76878800-76884800	Weak transcription	Primary T cells from cord blood	blood
13	chr15:76879200-76881200	Weak transcription	Fetal Stomach	stomach
14	chr15:76879400-76881600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr15:76879400-76881600	Weak transcription	Primary B cells from peripheral blood	blood
16	chr15:76879400-76883400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:76879600-76881200	Weak transcription	Thymus	Thymus
18	chr15:76879600-76881400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:76879600-76881600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:76879600-76883400	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr15:76879800-76881800	Weak transcription	Liver	Liver
22	chr15:76879800-76881800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr15:76879800-76885600	Weak transcription	Pancreas	Pancrea
24	chr15:76880200-76883200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:76880400-76883200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr15:76880400-76883200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr15:76880400-76883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:76880600-76883200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:76880600-76883400	Weak transcription	Fetal Muscle Leg	muscle
30	chr15:76881000-76881600	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr15:76881000-76881600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr15:76881200-76881400	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:76881200-76881800	Enhancers	Fetal Intestine Small	intestine
34	chr15:76881200-76882000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:76881200-76882000	ZNF genes & repeats	Lung	lung
36	chr15:76881200-76882400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:76881200-76882400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr15:76881200-76882400	Enhancers	Fetal Intestine Large	intestine
39	chr15:76881200-76882400	Strong transcription	Fetal Stomach	stomach
40	chr15:76881200-76882600	Strong transcription	Thymus	Thymus
41	chr15:76881400-76881600	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr15:76881400-76881800	Active TSS	Colonic Mucosa	Colon
43	chr15:76881400-76882000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:76881400-76882200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr15:76881400-76882400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr15:76881400-76882400	Enhancers	NHEK	skin
47	chr15:76881600-76881800	Enhancers	Duodenum Mucosa	Duodenum
48	chr15:76881600-76882000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:76881600-76882000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr15:76881600-76882000	Enhancers	Left Ventricle	heart

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