Variant report

Variant	nsv1042304
Chromosome Location	chr15:76869929-76895763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:76881400-76881550	Caco-2	colon:	n/a	n/a
2	CTCF	chr15:76881520-76881670	WERI-Rb-1	eye:	n/a	n/a
3	CTCF	chr15:76881440-76881590	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr15:76881300-76881450	NHEK	skin:	n/a	n/a
5	CTCF	chr15:76881380-76881530	NHEK	skin:	n/a	n/a
6	CTCF	chr15:76881400-76881550	HEK293	kidney:	n/a	n/a
7	CTCF	chr15:76881480-76881630	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:76881460-76881610	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr15:76882560-76882710	NHEK	skin:	n/a	n/a
10	CTCF	chr15:76881511-76881568	MCF-7	breast:	n/a	n/a
11	CTCF	chr15:76881453-76881628	MCF-7	breast:	n/a	n/a
12	CTCF	chr15:76881480-76881630	HEEpiC	esophagus:	n/a	n/a
13	CTCF	chr15:76881508-76881622	Pancreas_OC	pancreas:	n/a	n/a
14	CTCF	chr15:76881480-76881630	HepG2	liver:	n/a	n/a
15	GATA3	chr15:76883261-76883422	SH-SY5Y	brain:	n/a	n/a
16	MAX	chr15:76872719-76872775	NB4	blood:	n/a	chr15:76872722-76872732 chr15:76872738-76872748
17	MYC	chr15:76881873-76881952	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:76872099-76872252	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr15:76870310-76870387	MCF-7	breast:	n/a	n/a
20	POLR2A	chr15:76881795-76881944	MCF-7	breast:	n/a	n/a
21	POLR2A	chr15:76881790-76881791	MCF-7	breast:	n/a	n/a
22	POLR2A	chr15:76884234-76884374	MCF-7	breast:	n/a	n/a
23	RAD21	chr15:76881379-76881726	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr15:76881428-76881536	HepG2	liver:	n/a	n/a
25	SETDB1	chr15:76874910-76875249	U2OS	brain:	n/a	n/a

No data

(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
SCAPER	TF binding region
MIR3713	TF binding region
ENSG00000266449	chromatin interactions

Extended variants
information (count: 855 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:855 , 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	rs2120108	chr15:76869929-76869930	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs546763177	chr15:76869936-76869937	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145057925	chr15:76869945-76869946	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs571516976	chr15:76869961-76869962	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs565931637	chr15:76869976-76869977	Weak transcription Enhancers Genic enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs138930189	chr15:76870025-76870026	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550563144	chr15:76870050-76870051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569169564	chr15:76870131-76870132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539760688	chr15:76870134-76870135	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558302938	chr15:76870175-76870176	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566930417	chr15:76870240-76870241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538284313	chr15:76870287-76870288	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375861811	chr15:76870289-76870290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149409355	chr15:76870311-76870312	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555494511	chr15:76870372-76870373	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367627251	chr15:76870402-76870403	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373808047	chr15:76870403-76870404	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75281718	chr15:76870471-76870472	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181768920	chr15:76870492-76870493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1607016	chr15:76870496-76870497	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs148176685	chr15:76870499-76870500	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141625686	chr15:76870571-76870572	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185273157	chr15:76870639-76870640	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571544904	chr15:76870644-76870645	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527485635	chr15:76870653-76870654	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373082869	chr15:76870683-76870684	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537467827	chr15:76870691-76870692	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs371745004	chr15:76870694-76870695	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147153169	chr15:76870698-76870699	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529355406	chr15:76870708-76870709	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140300232	chr15:76870730-76870731	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568933241	chr15:76870731-76870732	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374938597	chr15:76870739-76870740	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144267167	chr15:76870740-76870741	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368502134	chr15:76870795-76870796	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551771306	chr15:76870813-76870814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567196780	chr15:76870844-76870845	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534129465	chr15:76870856-76870857	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6495206	chr15:76870963-76870964	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs2468116	chr15:76870998-76870999	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs72738853	chr15:76871034-76871035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs542171086	chr15:76871091-76871092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112962866	chr15:76871116-76871117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs556320316	chr15:76871258-76871259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577547915	chr15:76871335-76871336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538668160	chr15:76871342-76871343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189824045	chr15:76871343-76871344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181426214	chr15:76871378-76871379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62030412	chr15:76871379-76871380	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560764877	chr15:76871423-76871424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76862600-76872000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr15:76868200-76870000	Weak transcription	Primary B cells from cord blood	blood
3	chr15:76868400-76870800	Enhancers	Esophagus	oesophagus
4	chr15:76868400-76871000	Enhancers	Ovary	ovary
5	chr15:76868600-76870800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:76868800-76870000	Enhancers	Liver	Liver
7	chr15:76868800-76870200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr15:76868800-76870200	Enhancers	Small Intestine	intestine
9	chr15:76868800-76870600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr15:76868800-76870800	Enhancers	Right Atrium	heart
11	chr15:76868800-76871000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr15:76868800-76871200	Enhancers	NHEK	skin
13	chr15:76869000-76870000	Enhancers	Colon Smooth Muscle	Colon
14	chr15:76869000-76870000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr15:76869000-76870000	Enhancers	Fetal Intestine Large	intestine
16	chr15:76869000-76870000	Enhancers	Psoas Muscle	Psoas
17	chr15:76869000-76870200	Enhancers	Brain Substantia Nigra	brain
18	chr15:76869000-76870200	Enhancers	Fetal Lung	lung
19	chr15:76869000-76870200	Enhancers	Fetal Muscle Leg	muscle
20	chr15:76869000-76870200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr15:76869000-76870400	Enhancers	Right Ventricle	heart
22	chr15:76869000-76870800	Enhancers	Aorta	Aorta
23	chr15:76869000-76870800	Enhancers	Left Ventricle	heart
24	chr15:76869000-76870800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:76869000-76870800	Enhancers	HepG2	liver
26	chr15:76869000-76870800	Enhancers	HMEC	breast
27	chr15:76869000-76871000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:76869200-76870000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:76869200-76870000	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr15:76869200-76870400	Enhancers	Lung	lung
31	chr15:76869400-76870000	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:76869400-76870200	Enhancers	Fetal Heart	heart
33	chr15:76869400-76870600	Weak transcription	Fetal Thymus	thymus
34	chr15:76869400-76881200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:76869600-76870200	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr15:76869600-76870400	Enhancers	Colonic Mucosa	Colon
37	chr15:76869600-76870600	Enhancers	Duodenum Mucosa	Duodenum
38	chr15:76869800-76870000	Genic enhancers	Fetal Intestine Small	intestine
39	chr15:76869800-76870000	Active TSS	Stomach Smooth Muscle	stomach
40	chr15:76869800-76870200	Weak transcription	Spleen	Spleen
41	chr15:76869800-76870400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr15:76869800-76870600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr15:76869800-76870600	Enhancers	Hela-S3	cervix
44	chr15:76870000-76871000	Strong transcription	Fetal Intestine Small	intestine
45	chr15:76870000-76871800	Weak transcription	Fetal Intestine Large	intestine
46	chr15:76870200-76870400	Enhancers	Spleen	Spleen
47	chr15:76870200-76870800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:76870200-76872600	Weak transcription	Brain Substantia Nigra	brain
49	chr15:76870400-76872000	Weak transcription	Spleen	Spleen
50	chr15:76870400-76876000	Weak transcription	Right Ventricle	heart

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