Variant report

Variant	nsv827341
Chromosome Location	chr15:56529146-56532251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:122)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:56529788-56530071	T-47D	breast:	n/a	n/a
2	GATA3	chr15:56529831-56530170	T-47D	breast:	n/a	n/a
3	MAFK	chr15:56529814-56530077	HepG2	liver:	n/a	n/a
4	MAFK	chr15:56529847-56530047	HepG2	liver:	n/a	n/a
5	MAFK	chr15:56529953-56529968	IMR90	lung:	n/a	n/a
6	MAZ	chr15:56530104-56530110	K562	blood:	n/a	n/a
7	MXI1	chr15:56532128-56532985	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:56530116-56530455	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:56532060-56532061	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:56531666-56532050	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:56531191-56531201	GM12878	blood:	n/a	n/a
12	POLR2A	chr15:56529167-56529285	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:56530188-56530283	MCF-7	breast:	n/a	n/a
14	POLR2A	chr15:56531075-56531651	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:56532135-56532563	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:56530145-56530354	K562	blood:	n/a	n/a
17	POLR2A	chr15:56529913-56530187	GM12892	blood:	n/a	n/a
18	SMC3	chr15:56532146-56532261	GM12878	blood:	n/a	n/a
19	STAT3	chr15:56530487-56530836	MCF10A-Er-Src	breast:	n/a	n/a
20	ZNF143	chr15:56532242-56532267	H1-hESC	embryonic stem cell:	n/a	n/a
21	ZNF384	chr15:56531985-56532475	GM12878	blood:	n/a	n/a
22	ZNF384	chr15:56530225-56530226	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:56530082-56530132	SK-N-SH	brain:	n/a
2	chr15:56531754-56531804	HEK293	kidney:	embryo
3	chr15:56530082-56530132	H1-hESC	embryonic stem cell:	embryo
4	chr15:56531754-56531804	Hela-S3	cervix:	n/a
5	chr15:56530082-56530132	SK-N-MC	brain:	n/a
6	chr15:56531754-56531804	AG04450	lung:	fetal
7	chr15:56531754-56531804	HCPEpiC	choroid plexus:	n/a
8	chr15:56530082-56530132	AG10803	skin:	n/a
9	chr15:56531754-56531804	HEEpiC	esophagus:	n/a
10	chr15:56530082-56530132	AG04450	lung:	fetal
11	chr15:56531754-56531804	AG09309	skin:	n/a
12	chr15:56531754-56531804	SK-N-SH_RA	brain:	n/a
13	chr15:56531754-56531804	NH-A	brain:	n/a
14	chr15:56530082-56530132	HAEpiC	amniotic membrane:	n/a
15	chr15:56530082-56530132	NHDF-neo	bronchial:	n/a
16	chr15:56531754-56531804	SK-N-MC	brain:	n/a
17	chr15:56531754-56531804	LNCaP	prostate:	n/a
18	chr15:56531754-56531804	HCM	heart:	n/a
19	chr15:56531754-56531804	ProgFib	skin:	n/a
20	chr15:56530082-56530132	NB4	blood:	n/a
21	chr15:56531754-56531804	HAEpiC	amniotic membrane:	n/a
22	chr15:56531754-56531804	BJ	skin:	n/a
23	chr15:56530082-56530132	HMEC	breast:	n/a
24	chr15:56530082-56530132	ovcar-3	ovarian:	n/a
25	chr15:56530082-56530132	NH-A	brain:	n/a
26	chr15:56530082-56530132	Hela-S3	cervix:	n/a
27	chr15:56530082-56530132	BJ	skin:	n/a
28	chr15:56530082-56530132	AG04449	skin:	fetal
29	chr15:56530082-56530132	AG09309	skin:	n/a
30	chr15:56530082-56530132	PANC-1	pancreas:	n/a
31	chr15:56531754-56531804	Caco-2	colon:	n/a
32	chr15:56531754-56531804	PANC-1	pancreas:	n/a
33	chr15:56530082-56530132	MCF10A-Er-Src	breast:	n/a
34	chr15:56530082-56530132	HL-60	blood:	n/a
35	chr15:56530082-56530132	LNCaP	prostate:	n/a
36	chr15:56531754-56531804	CMK	blood:	n/a
37	chr15:56531754-56531804	HCF	heart:	n/a
38	chr15:56530082-56530132	AoSMC	blood vessel:	n/a
39	chr15:56530082-56530132	HRCEpiC	kidney:	n/a
40	chr15:56530082-56530132	HIPEpiC	eye:	n/a
41	chr15:56531754-56531804	MCF10A-Er-Src	breast:	n/a
42	chr15:56530082-56530132	Caco-2	colon:	n/a
43	chr15:56531754-56531804	HRCEpiC	kidney:	n/a
44	chr15:56530082-56530132	PrEC	prostate:	n/a
45	chr15:56531754-56531804	HCT-116	colon:	n/a
46	chr15:56530082-56530132	GM19239	blood:	n/a
47	chr15:56530082-56530132	HepG2	liver:	n/a
48	chr15:56531754-56531804	PrEC	prostate:	n/a
49	chr15:56530082-56530132	Hepatocyte	liver:	n/a
50	chr15:56530082-56530132	IMR90	lung:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:56523183..56527072-chr15:56528127..56530635,4	K562	blood:
2	chr15:56529793..56531409-chr15:56531688..56534062,2	MCF-7	breast:
3	chr15:56529793..56531409-chr15:56531688..56534062,2	MCF-7	breast:
4	chr15:56516120..56519450-chr15:56528763..56530830,3	K562	blood:
5	chr1:89991262..89991889-chr15:56531356..56531876,2	Hela-S3	cervix:
6	chr15:56521792..56524721-chr15:56527729..56529667,2	MCF-7	breast:

No data

Variant related genes	Relation type
TEX9	TF binding region
TEX9	CpG island

Extended variants
information (count: 122 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186539801	chr15:56529207-56529208	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573142165	chr15:56529208-56529209	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535489426	chr15:56529254-56529255	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555794442	chr15:56529257-56529258	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191844541	chr15:56529264-56529265	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114663010	chr15:56529266-56529267	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564703530	chr15:56529320-56529321	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139407933	chr15:56529326-56529327	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540881911	chr15:56529346-56529347	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150072804	chr15:56529361-56529362	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs9783738	chr15:56529425-56529426	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs74346945	chr15:56529444-56529445	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562584262	chr15:56529458-56529459	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs371773428	chr15:56529477-56529478	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373322267	chr15:56529480-56529481	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560387211	chr15:56529487-56529488	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7163562	chr15:56529578-56529579	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs36021178	chr15:56529703-56529704	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs60476946	chr15:56529721-56529722	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs533737621	chr15:56529743-56529744	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs60037792	chr15:56529750-56529751	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563273315	chr15:56529757-56529758	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556503509	chr15:56529793-56529794	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567462820	chr15:56529820-56529821	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576538545	chr15:56529837-56529838	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs57073668	chr15:56529847-56529848	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs555504853	chr15:56529852-56529853	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575791376	chr15:56529869-56529870	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374777495	chr15:56529870-56529871	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538381538	chr15:56529887-56529888	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370115961	chr15:56529955-56529956	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs61430727	chr15:56529965-56529966	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558380376	chr15:56530020-56530021	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs578187165	chr15:56530022-56530023	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs183748287	chr15:56530044-56530045	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs7163119	chr15:56530054-56530055	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574281185	chr15:56530140-56530141	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs542594842	chr15:56530142-56530143	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs116936153	chr15:56530148-56530149	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531304261	chr15:56530156-56530157	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs372614928	chr15:56530180-56530181	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs544661347	chr15:56530201-56530202	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377116314	chr15:56530205-56530206	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115299497	chr15:56530236-56530237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs148411115	chr15:56530240-56530241	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374097030	chr15:56530256-56530257	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75035077	chr15:56530274-56530275	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529977102	chr15:56530321-56530322	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs186537615	chr15:56530405-56530406	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569321181	chr15:56530446-56530447	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	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
Chronic lymphocytic leukemia	21546498	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:196 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56508000-56534400	Weak transcription	Fetal Heart	heart
2	chr15:56509000-56533600	Weak transcription	Osteobl	bone
3	chr15:56513800-56530200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr15:56514000-56535000	Weak transcription	Pancreas	Pancrea
5	chr15:56514600-56532400	Weak transcription	HSMMtube	muscle
6	chr15:56514800-56534800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr15:56515800-56529200	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:56520200-56530200	ZNF genes & repeats	Dnd41	blood
9	chr15:56521400-56532000	ZNF genes & repeats	GM12878-XiMat	blood
10	chr15:56522800-56533600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr15:56524600-56532000	Weak transcription	NHEK	skin
12	chr15:56524600-56532400	Weak transcription	HSMM	muscle
13	chr15:56524600-56533800	Weak transcription	Aorta	Aorta
14	chr15:56524600-56534800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:56524800-56531800	Weak transcription	NH-A	brain
16	chr15:56524800-56532000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:56524800-56533600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:56524800-56533600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:56524800-56533800	Weak transcription	Ovary	ovary
20	chr15:56524800-56534800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:56524800-56534800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:56524800-56534800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:56524800-56534800	Weak transcription	Small Intestine	intestine
24	chr15:56524800-56535000	Weak transcription	Esophagus	oesophagus
25	chr15:56525000-56529600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr15:56525000-56529800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr15:56525000-56533400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:56525000-56533600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr15:56525200-56529800	Weak transcription	Brain Anterior Caudate	brain
30	chr15:56525200-56531000	Weak transcription	Left Ventricle	heart
31	chr15:56525200-56531200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:56525400-56533600	Weak transcription	Brain Substantia Nigra	brain
33	chr15:56525400-56534800	Weak transcription	Placenta	Placenta
34	chr15:56525400-56535000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:56525600-56530000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:56525600-56532400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:56525600-56533600	Weak transcription	Fetal Stomach	stomach
38	chr15:56525600-56535000	Weak transcription	Lung	lung
39	chr15:56525800-56532000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr15:56525800-56533200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr15:56525800-56533400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr15:56525800-56533800	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:56526000-56532400	Weak transcription	Brain Germinal Matrix	brain
44	chr15:56526000-56532400	Weak transcription	NHDF-Ad	bronchial
45	chr15:56526000-56533400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:56526000-56533400	Weak transcription	Fetal Intestine Small	intestine
47	chr15:56526000-56533400	Weak transcription	Thymus	Thymus
48	chr15:56526000-56533600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr15:56526000-56533600	Weak transcription	Brain Angular Gyrus	brain
50	chr15:56526000-56533600	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links