Variant report

Variant	nsv977739
Chromosome Location	chr15:79062099-79080757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:97)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:97 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:79077772-79078235	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr15:79080640-79080790	GM12865	blood:	n/a	n/a
3	CTCF	chr15:79080620-79080770	HepG2	liver:	n/a	n/a
4	CTCF	chr15:79080671-79080895	K562	blood:	n/a	n/a
5	CTCF	chr15:79072862-79072926	LNCaP	prostate:	n/a	n/a
6	CTCF	chr15:79080743-79080857	MCF-7	breast:	n/a	n/a
7	CTCF	chr15:79080619-79080917	K562	blood:	n/a	n/a
8	CTCF	chr15:79069384-79069450	GM20000	blood:	n/a	n/a
9	CTCF	chr15:79080724-79080865	MCF-7	breast:	n/a	n/a
10	CTCF	chr15:79070878-79070902	GM19240	blood:	n/a	n/a
11	CTCF	chr15:79080745-79080836	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr15:79071582-79071622	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr15:79069840-79069990	HepG2	liver:	n/a	n/a
14	CTCF	chr15:79063666-79063696	Lung_OC	lung:	n/a	n/a
15	CTCF	chr15:79074126-79074273	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr15:79063380-79063530	HepG2	liver:	n/a	n/a
17	CTCF	chr15:79073421-79073442	GM13976	blood:	n/a	n/a
18	CTCF	chr15:79080677-79080897	NHEK	skin:	n/a	n/a
19	CTCF	chr15:79080690-79081036	MCF-7	breast:	n/a	n/a
20	CTCF	chr15:79066788-79066840	Kidney_OC	kidney:	n/a	n/a
21	CTCF	chr15:79066844-79066879	Lung_OC	lung:	n/a	n/a
22	CTCF	chr15:79065924-79065994	Lung_OC	lung:	n/a	n/a
23	CTCF	chr15:79063380-79063530	Caco-2	colon:	n/a	n/a
24	CTCF	chr15:79071820-79071846	Lung_OC	lung:	n/a	n/a
25	CTCF	chr15:79069824-79069908	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr15:79071793-79071803	Lung_OC	lung:	n/a	n/a
27	CTCF	chr15:79080700-79080850	NHEK	skin:	n/a	n/a
28	CTCF	chr15:79080700-79080850	GM12869	blood:	n/a	n/a
29	CTCF	chr15:79080538-79080952	K562	blood:	n/a	n/a
30	CTCF	chr15:79063621-79063689	GM20000	blood:	n/a	n/a
31	CTCF	chr15:79070841-79070872	Lung_OC	lung:	n/a	n/a
32	CTCF	chr15:79080740-79080890	NHEK	skin:	n/a	n/a
33	CTCF	chr15:79080700-79080850	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr15:79080720-79080870	A549	lung:	n/a	n/a
35	CTCF	chr15:79070865-79070895	GM12891	blood:	n/a	n/a
36	CTCF	chr15:79063400-79063550	HEK293	kidney:	n/a	n/a
37	CTCF	chr15:79080700-79080850	GM12875	blood:	n/a	n/a
38	CTCF	chr15:79080750-79080857	HepG2	liver:	n/a	n/a
39	CTCF	chr15:79080738-79080838	GM12878	blood:	n/a	n/a
40	E2F6	chr15:79068764-79068894	K562	blood:	n/a	n/a
41	EBF1	chr15:79066706-79067018	GM12878	blood:	n/a	chr15:79066834-79066843 chr15:79066832-79066845 chr15:79066834-79066844
42	EP300	chr15:79077998-79078154	K562	blood:	n/a	n/a
43	EP300	chr15:79077974-79078219	Hela-S3	cervix:	n/a	n/a
44	FOXA1	chr15:79078604-79078865	HepG2	liver:	n/a	n/a
45	FOXA1	chr15:79078600-79078972	HepG2	liver:	n/a	n/a
46	FOXA1	chr15:79078660-79078889	T-47D	breast:	n/a	n/a
47	GABPA	chr15:79072474-79072644	Hela-S3	cervix:	n/a	n/a
48	KAP1	chr15:79077210-79077374	HEK293	kidney:	n/a	n/a
49	MAFF	chr15:79068723-79069006	K562	blood:	n/a	chr15:79068877-79068891 chr15:79068871-79068889
50	MAFF	chr15:79068777-79068991	HepG2	liver:	n/a	chr15:79068877-79068891 chr15:79068871-79068889

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:79079898..79081980-chr15:79170465..79172653,2	K562	blood:
2	chr15:79067456..79069175-chr15:79164352..79166795,2	K562	blood:
3	chr15:78266206..78268014-chr15:79069467..79071102,2	MCF-7	breast:
4	chr15:79069323..79071034-chr15:79102065..79103655,2	K562	blood:
5	chr15:78869904..78872050-chr15:79066335..79069045,2	MCF-7	breast:

No data

Variant related genes	Relation type
ADAMTS7	TF binding region
ENSG00000185787	chromatin interactions
ENSG00000136378	chromatin interactions

Extended variants
information (count: 1071 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1807007	chr15:79062102-79062103	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570693366	chr15:79062106-79062107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141845651	chr15:79062142-79062143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200231071	chr15:79062149-79062150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568154825	chr15:79062157-79062158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535489564	chr15:79062159-79062160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557274652	chr15:79062182-79062183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575470693	chr15:79062193-79062194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562239129	chr15:79062230-79062231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs540392425	chr15:79062274-79062275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558012767	chr15:79062276-79062277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573071912	chr15:79062329-79062330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531159580	chr15:79062339-79062340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1807006	chr15:79062340-79062341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528934461	chr15:79062405-79062406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543884712	chr15:79062436-79062437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111775124	chr15:79062454-79062455	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs531140914	chr15:79062489-79062490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552433601	chr15:79062506-79062507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117093863	chr15:79062526-79062527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs367730745	chr15:79062527-79062528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555287145	chr15:79062528-79062529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541099737	chr15:79062532-79062533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56251219	chr15:79062547-79062548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200438356	chr15:79062607-79062608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs77433085	chr15:79062662-79062663	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72747307	chr15:79062686-79062687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9708234	chr15:79062745-79062746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12591098	chr15:79062793-79062794	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs116362251	chr15:79062832-79062833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546751652	chr15:79062841-79062842	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62012623	chr15:79062888-79062889	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs147030716	chr15:79062946-79062947	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12917102	chr15:79062952-79062953	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535917211	chr15:79062973-79062974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371293965	chr15:79062987-79062988	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548281058	chr15:79062996-79062997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34445137	chr15:79062997-79062998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397781603	chr15:79063001-79063002	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550715661	chr15:79063006-79063007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569220275	chr15:79063043-79063044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138238026	chr15:79063045-79063046	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12593429	chr15:79063046-79063047	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143365856	chr15:79063103-79063104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148351501	chr15:79063117-79063118	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79509003	chr15:79063128-79063129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200125702	chr15:79063226-79063227	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs367971892	chr15:79063227-79063228	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181208336	chr15:79063240-79063241	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112677804	chr15:79063246-79063247	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
small cell lung cancer	20016488	CNVD
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79043600-79077800	Weak transcription	Brain Germinal Matrix	brain
2	chr15:79046400-79063200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:79051800-79070600	Weak transcription	Fetal Brain Female	brain
4	chr15:79052800-79070600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:79052800-79070800	Weak transcription	Ovary	ovary
6	chr15:79052800-79071000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:79053200-79063200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:79053200-79063800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:79053200-79071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr15:79054000-79068600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:79054000-79083200	Weak transcription	Fetal Intestine Small	intestine
12	chr15:79054400-79070600	Weak transcription	HSMM	muscle
13	chr15:79054600-79064000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr15:79054600-79070000	Weak transcription	Fetal Lung	lung
15	chr15:79054600-79070400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr15:79054800-79070600	Weak transcription	Adipose Nuclei	Adipose
17	chr15:79055000-79063000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr15:79055000-79069800	Weak transcription	Left Ventricle	heart
19	chr15:79055000-79076400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:79055800-79070000	Weak transcription	Lung	lung
21	chr15:79056400-79063200	Weak transcription	Right Ventricle	heart
22	chr15:79056600-79070600	Weak transcription	Right Atrium	heart
23	chr15:79057000-79076400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr15:79058000-79090000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:79058600-79068600	Weak transcription	Spleen	Spleen
26	chr15:79059000-79068600	Weak transcription	Fetal Muscle Leg	muscle
27	chr15:79059400-79071000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:79059800-79068600	Weak transcription	Osteobl	bone
29	chr15:79060000-79062800	Weak transcription	Fetal Stomach	stomach
30	chr15:79060200-79063200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:79060800-79078600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr15:79061000-79070400	Weak transcription	HSMMtube	muscle
33	chr15:79061000-79078000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr15:79061000-79078800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr15:79061000-79078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:79061000-79080000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr15:79061200-79062600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:79061400-79063200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:79061600-79062200	Enhancers	Brain Substantia Nigra	brain
40	chr15:79061600-79066800	Weak transcription	Fetal Muscle Trunk	muscle
41	chr15:79061600-79080400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr15:79061800-79062200	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr15:79061800-79062200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr15:79062000-79062200	Enhancers	A549	lung
45	chr15:79062000-79063200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:79062200-79080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr15:79062600-79064200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:79062800-79070200	Strong transcription	Fetal Stomach	stomach
49	chr15:79063000-79066800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr15:79063200-79063400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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