Variant report

Variant	nsv827344
Chromosome Location	chr15:57132604-57139103
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:57133292-57133314	K562	blood:	n/a	n/a
2	CEBPB	chr15:57136480-57136676	K562	blood:	n/a	chr15:57136569-57136580 chr15:57136568-57136579 chr15:57136568-57136581
3	CEBPB	chr15:57136520-57136635	HepG2	liver:	n/a	chr15:57136569-57136580 chr15:57136568-57136579 chr15:57136568-57136581
4	KAP1	chr15:57134141-57134414	K562	blood:	n/a	n/a
5	MAFK	chr15:57138901-57139022	HepG2	liver:	n/a	n/a
6	MAX	chr15:57137063-57137317	H1-hESC	embryonic stem cell:	n/a	chr15:57137209-57137219 chr15:57137189-57137199
7	MAX	chr15:57137057-57137352	NB4	blood:	n/a	chr15:57137209-57137219 chr15:57137189-57137199
8	POLR2A	chr15:57135058-57135100	GM12878	blood:	n/a	n/a
9	STAT3	chr15:57133273-57133332	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:57138252-57138302	HAEpiC	amniotic membrane:	n/a
2	chr15:57138252-57138302	GM12878	blood:	n/a
3	chr15:57138252-57138302	MCF10A-Er-Src	breast:	n/a
4	chr15:57138252-57138302	H1-hESC	embryonic stem cell:	embryo
5	chr15:57138252-57138302	SK-N-MC	brain:	n/a
6	chr15:57138252-57138302	PFSK-1	brain:	n/a
7	chr15:57138252-57138302	LNCaP	prostate:	n/a
8	chr15:57138252-57138302	GM06990	blood:	n/a
9	chr15:57138252-57138302	ProgFib	skin:	n/a
10	chr15:57138252-57138302	HIPEpiC	eye:	n/a
11	chr15:57138252-57138302	HRCEpiC	kidney:	n/a
12	chr15:57138252-57138302	AG09309	skin:	n/a
13	chr15:57138252-57138302	Caco-2	colon:	n/a
14	chr15:57138252-57138302	Hepatocyte	liver:	n/a
15	chr15:57138252-57138302	CMK	blood:	n/a
16	chr15:57138252-57138302	HMEC	breast:	n/a
17	chr15:57138252-57138302	HCT-116	colon:	n/a
18	chr15:57138252-57138302	HEK293	kidney:	embryo
19	chr15:57138252-57138302	AG10803	skin:	n/a
20	chr15:57138252-57138302	AG09319	gingival:	n/a
21	chr15:57138252-57138302	RPTEC	kidney:	n/a
22	chr15:57138252-57138302	ECC-1	luminal epithelium:	n/a
23	chr15:57138252-57138302	AG04450	lung:	fetal
24	chr15:57138252-57138302	NH-A	brain:	n/a
25	chr15:57138252-57138302	K562	blood:	n/a
26	chr15:57138252-57138302	HL-60	blood:	n/a
27	chr15:57138252-57138302	Jurkat	blood:	n/a
28	chr15:57138252-57138302	AoSMC	blood vessel:	n/a
29	chr15:57138252-57138302	SK-N-SH_RA	brain:	n/a
30	chr15:57138252-57138302	SAEC	small airway:	n/a
31	chr15:57138252-57138302	GM12891	blood:	n/a
32	chr15:57138252-57138302	HRPEpiC	eye:	n/a
33	chr15:57138252-57138302	U87	brain:	n/a
34	chr15:57138252-57138302	IMR90	lung:	fetal
35	chr15:57138252-57138302	NT2-D1	testis:	n/a
36	chr15:57138252-57138302	HCF	heart:	n/a
37	chr15:57138252-57138302	HCPEpiC	choroid plexus:	n/a
38	chr15:57138252-57138302	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:57138252-57138302	PrEC	prostate:	n/a
40	chr15:57138252-57138302	T-47D	breast:	n/a
41	chr15:57138252-57138302	GM12892	blood:	n/a
42	chr15:57138252-57138302	HCM	heart:	n/a
43	chr15:57138252-57138302	SKMC	muscle:	n/a
44	chr15:57138252-57138302	SK-N-SH	brain:	n/a
45	chr15:57138252-57138302	MCF-7	breast:	n/a
46	chr15:57138252-57138302	HepG2	liver:	n/a
47	chr15:57138252-57138302	A549	lung:	n/a
48	chr15:57138252-57138302	NHDF-neo	bronchial:	n/a
49	chr15:57138252-57138302	HEEpiC	esophagus:	n/a
50	chr15:57138252-57138302	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:57131930..57134243-chr15:57135173..57137568,2	K562	blood:
2	chr15:57131930..57134243-chr15:57135173..57137568,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000225625	TF binding region
ENSG00000225625	CpG island

Extended variants
information (count: 210 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575724613	chr15:57132613-57132614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140883745	chr15:57132661-57132662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544487582	chr15:57132716-57132717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540934264	chr15:57132791-57132792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564489156	chr15:57132800-57132801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533318603	chr15:57132812-57132813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57300318	chr15:57132818-57132819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540831096	chr15:57132852-57132853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544806449	chr15:57132863-57132864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs5812855	chr15:57132864-57132865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559958339	chr15:57132873-57132874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1615647	chr15:57132900-57132901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185833723	chr15:57133005-57133006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111906955	chr15:57133025-57133026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62022959	chr15:57133033-57133034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568856071	chr15:57133172-57133173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531377963	chr15:57133253-57133254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551695630	chr15:57133265-57133266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571519384	chr15:57133302-57133303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533705315	chr15:57133356-57133357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13379960	chr15:57133357-57133358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566823280	chr15:57133424-57133425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144856327	chr15:57133434-57133435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114896317	chr15:57133448-57133449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189359032	chr15:57133449-57133450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115467489	chr15:57133453-57133454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557990946	chr15:57133509-57133510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs57498481	chr15:57133537-57133538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs540444700	chr15:57133559-57133560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560718479	chr15:57133601-57133602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529500702	chr15:57133723-57133724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182020277	chr15:57133755-57133756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111534192	chr15:57133759-57133760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186420044	chr15:57133780-57133781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190833070	chr15:57133802-57133803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563444036	chr15:57133823-57133824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34916267	chr15:57133885-57133886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57249166	chr15:57133900-57133901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564996628	chr15:57133910-57133911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1647377	chr15:57133930-57133931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147950358	chr15:57133976-57133977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567438204	chr15:57133980-57133981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536081438	chr15:57134027-57134028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144382804	chr15:57134030-57134031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201792822	chr15:57134031-57134032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199862618	chr15:57134033-57134034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs59157784	chr15:57134035-57134036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182870804	chr15:57134063-57134064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186602604	chr15:57134180-57134181	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs375602456	chr15:57134184-57134185	Weak transcription	TF binding region	1 gene(s)	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
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
2	chr15:57125400-57140400	Weak transcription	Brain Angular Gyrus	brain
3	chr15:57125400-57141000	Weak transcription	Fetal Lung	lung
4	chr15:57125400-57141000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:57128200-57140400	Weak transcription	Brain Anterior Caudate	brain
6	chr15:57128200-57158600	Weak transcription	Ovary	ovary
7	chr15:57128400-57140000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr15:57128400-57140400	Weak transcription	Right Ventricle	heart
9	chr15:57129400-57137400	Weak transcription	Fetal Kidney	kidney
10	chr15:57129400-57142600	Weak transcription	Fetal Muscle Leg	muscle
11	chr15:57129800-57133000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:57131000-57141000	Weak transcription	Adipose Nuclei	Adipose
13	chr15:57132000-57136800	Weak transcription	Dnd41	blood
14	chr15:57132400-57132800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:57132800-57133200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:57133000-57137000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr15:57135000-57135400	ZNF genes & repeats	Aorta	Aorta
18	chr15:57135400-57164000	Weak transcription	Aorta	Aorta
19	chr15:57135600-57135800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:57136800-57137200	Enhancers	HepG2	liver
21	chr15:57136800-57137400	Enhancers	K562	blood
22	chr15:57136800-57137600	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr15:57136800-57137600	Enhancers	Dnd41	blood
24	chr15:57137000-57137200	Enhancers	Fetal Intestine Small	intestine
25	chr15:57137000-57137200	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:57137200-57137400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:57137200-57145600	Weak transcription	Fetal Intestine Small	intestine
28	chr15:57137400-57142200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:57138000-57140400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:57138400-57139000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:57138600-57139600	Strong transcription	Left Ventricle	heart
32	chr15:57138600-57141200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr15:57138600-57161800	Weak transcription	Fetal Thymus	thymus
34	chr15:57139000-57139600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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