Variant report

Variant	nsv984090
Chromosome Location	chr15:72670090-72673769
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr15:72671811-72672028	GM12878	blood:	n/a	n/a
2	CEBPB	chr15:72671582-72671787	IMR90	lung:	n/a	n/a
3	MYC	chr15:72672373-72672489	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr15:72671781-72672058	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr15:72670205-72670387	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr15:72670398-72670440	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:72672316-72672444	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr15:72671781-72672197	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:72671822-72672040	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr15:72670143-72670151	HepG2	liver:	n/a	n/a
11	POLR2A	chr15:72670088-72670136	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:72671806-72672085	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:72670476-72670737	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:72671144-72671248	HepG2	liver:	n/a	n/a
15	POLR2A	chr15:72671765-72672040	Hela-S3	cervix:	n/a	n/a
16	STAT3	chr15:72669955-72670155	MCF10A-Er-Src	breast:	n/a	n/a
17	TEAD4	chr15:72673643-72673922	H1-hESC	embryonic stem cell:	n/a	n/a
18	TEAD4	chr15:72673650-72673988	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	chr15:72671985-72672035	LNCaP	prostate:	n/a
2	chr15:72671985-72672035	ECC-1	luminal epithelium:	n/a
3	chr15:72671985-72672035	SAEC	small airway:	n/a
4	chr15:72671985-72672035	AG09319	gingival:	n/a
5	chr15:72671985-72672035	SKMC	muscle:	n/a
6	chr15:72671985-72672035	HL-60	blood:	n/a
7	chr15:72671985-72672035	ProgFib	skin:	n/a
8	chr15:72671985-72672035	AoSMC	blood vessel:	n/a
9	chr15:72671985-72672035	SK-N-MC	brain:	n/a
10	chr15:72671985-72672035	SK-N-SH	brain:	n/a
11	chr15:72671985-72672035	H1-hESC	embryonic stem cell:	embryo
12	chr15:72671985-72672035	BJ	skin:	n/a
13	chr15:72671985-72672035	NH-A	brain:	n/a
14	chr15:72671985-72672035	IMR90	lung:	fetal
15	chr15:72671985-72672035	Caco-2	colon:	n/a
16	chr15:72671985-72672035	GM12892	blood:	n/a
17	chr15:72671985-72672035	HepG2	liver:	n/a
18	chr15:72671985-72672035	HCT-116	colon:	n/a
19	chr15:72671985-72672035	HRPEpiC	eye:	n/a
20	chr15:72671985-72672035	HRCEpiC	kidney:	n/a
21	chr15:72671985-72672035	A549	lung:	n/a
22	chr15:72671985-72672035	GM06990	blood:	n/a
23	chr15:72671985-72672035	GM19239	blood:	n/a
24	chr15:72671985-72672035	HAEpiC	amniotic membrane:	n/a
25	chr15:72671985-72672035	NT2-D1	testis:	n/a
26	chr15:72671985-72672035	CMK	blood:	n/a
27	chr15:72671985-72672035	HCM	heart:	n/a
28	chr15:72671985-72672035	U87	brain:	n/a
29	chr15:72671985-72672035	HUVEC	blood vessel:	n/a
30	chr15:72671985-72672035	HPAEpiC	pulmonary alveolar:	n/a
31	chr15:72671985-72672035	AG10803	skin:	n/a
32	chr15:72671985-72672035	GM12891	blood:	n/a
33	chr15:72671985-72672035	HNPCEpiC	eye:	n/a
34	chr15:72671985-72672035	RPTEC	kidney:	n/a
35	chr15:72671985-72672035	GM12878	blood:	n/a
36	chr15:72671985-72672035	NHDF-neo	bronchial:	n/a
37	chr15:72671985-72672035	HMEC	breast:	n/a
38	chr15:72671985-72672035	HCPEpiC	choroid plexus:	n/a
39	chr15:72671985-72672035	MCF-7	breast:	n/a
40	chr15:72671985-72672035	HEK293	kidney:	embryo
41	chr15:72671985-72672035	Jurkat	blood:	n/a
42	chr15:72671985-72672035	AG09309	skin:	n/a
43	chr15:72671985-72672035	SK-N-SH_RA	brain:	n/a
44	chr15:72671985-72672035	PANC-1	pancreas:	n/a
45	chr15:72671985-72672035	HCF	heart:	n/a
46	chr15:72671985-72672035	MCF10A-Er-Src	breast:	n/a
47	chr15:72671985-72672035	HIPEpiC	eye:	n/a
48	chr15:72671985-72672035	PFSK-1	brain:	n/a
49	chr15:72671985-72672035	BE2_C	brain:	n/a
50	chr15:72671985-72672035	HEEpiC	esophagus:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72521644..72524080-chr15:72668948..72670929,2	MCF-7	breast:
2	chr15:72672709..72674738-chr15:72742581..72744215,2	MCF-7	breast:
3	chr15:72669180..72672003-chr15:72765406..72767515,3	K562	blood:
4	chr15:72637386..72639806-chr15:72671952..72673876,2	K562	blood:
5	chr15:72672866..72674648-chr15:72766879..72768997,2	MCF-7	breast:
6	chr15:72667344..72672450-chr15:72764755..72768100,8	K562	blood:
7	chr15:72667201..72670488-chr15:72672607..72675873,3	K562	blood:
8	chr15:72673165..72676968-chr15:72765350..72768460,6	MCF-7	breast:
9	chr15:72667788..72670263-chr15:72673288..72675129,2	MCF-7	breast:
10	chr15:72672853..72674425-chr15:72675478..72677681,2	K562	blood:
11	chr15:72668155..72670512-chr20:49346499..49348280,2	MCF-7	breast:
12	chr15:72667335..72670021-chr15:72670916..72672752,3	MCF-7	breast:
13	chr15:72672210..72674476-chr15:72789128..72791611,2	MCF-7	breast:
14	chr15:72666558..72670735-chr15:72765041..72769475,12	MCF-7	breast:
15	chr15:72669000..72671381-chr15:72700452..72702096,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260729	TF binding region
ENSG00000243007	TF binding region
HEXA	TF binding region
ENSG00000260729	CpG island
ENSG00000243007	CpG island
HEXA	CpG island
ENSG00000067225	chromatin interactions
ENSG00000213614	chromatin interactions
ENSG00000261423	chromatin interactions
ENSG00000166233	chromatin interactions
ENSG00000271072	chromatin interactions
ENSG00000260339	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000260729	chromatin interactions

Extended variants
information (count: 130 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78192684	chr15:72670173-72670174	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs140143493	chr15:72670184-72670185	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs111279699	chr15:72670211-72670212	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs569605344	chr15:72670225-72670226	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs556798828	chr15:72670233-72670234	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs537274382	chr15:72670254-72670255	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs558750963	chr15:72670256-72670257	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs577099815	chr15:72670257-72670258	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs534946676	chr15:72670260-72670261	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs532988489	chr15:72670275-72670276	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs553303892	chr15:72670358-72670359	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs189501345	chr15:72670364-72670365	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs180743622	chr15:72670374-72670375	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs186655575	chr15:72670469-72670470	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs575612803	chr15:72670481-72670482	Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs373941708	chr15:72670531-72670532	Enhancers Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs146828714	chr15:72670625-72670626	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs368072324	chr15:72670630-72670631	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs561605340	chr15:72670655-72670656	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs576632202	chr15:72670665-72670666	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs546260807	chr15:72670675-72670676	Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs372586284	chr15:72670766-72670767	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs370014733	chr15:72670774-72670775	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs528658943	chr15:72670785-72670786	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs540564784	chr15:72670799-72670800	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs148953759	chr15:72670821-72670822	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs189707796	chr15:72670836-72670837	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs181142986	chr15:72670847-72670848	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs569749029	chr15:72670935-72670936	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs77750213	chr15:72670939-72670940	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs186024198	chr15:72670946-72670947	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs570708354	chr15:72671011-72671012	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs56104280	chr15:72671094-72671095	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs553306012	chr15:72671284-72671285	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs568234496	chr15:72671348-72671349	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs535854740	chr15:72671352-72671353	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs367878511	chr15:72671361-72671362	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs575572916	chr15:72671374-72671375	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs142796923	chr15:72671383-72671384	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs71397237	chr15:72671478-72671479	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs58871584	chr15:72671503-72671504	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs557820646	chr15:72671523-72671524	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs572482726	chr15:72671599-72671600	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs573109534	chr15:72671627-72671628	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs540382414	chr15:72671657-72671658	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs541511375	chr15:72671668-72671669	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs562428029	chr15:72671684-72671685	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs529527667	chr15:72671690-72671691	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs544874540	chr15:72671693-72671694	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs113200993	chr15:72671699-72671700	Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	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
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
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72669000-72673600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:72669200-72670200	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr15:72669200-72670200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr15:72669200-72670400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:72669200-72670400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr15:72669200-72670600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr15:72669200-72670600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:72669200-72672000	Weak transcription	HUVEC	blood vessel
9	chr15:72669200-72672600	Weak transcription	Right Atrium	heart
10	chr15:72669400-72670200	Enhancers	Primary B cells from cord blood	blood
11	chr15:72669400-72670200	Enhancers	Primary T cells from cord blood	blood
12	chr15:72669400-72670200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr15:72669400-72670200	Enhancers	Duodenum Mucosa	Duodenum
14	chr15:72669400-72670200	Enhancers	Fetal Intestine Large	intestine
15	chr15:72669400-72670200	Enhancers	Fetal Intestine Small	intestine
16	chr15:72669400-72670400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr15:72669400-72670600	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr15:72669400-72670600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr15:72669600-72670200	Enhancers	HepG2	liver
20	chr15:72669800-72670400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:72669800-72672600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr15:72670000-72672400	Weak transcription	Adipose Nuclei	Adipose
23	chr15:72670000-72675200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:72670200-72672200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:72670200-72672400	Weak transcription	HepG2	liver
26	chr15:72670200-72672600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr15:72670400-72672400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:72670600-72672400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr15:72672000-72673400	Enhancers	HUVEC	blood vessel
30	chr15:72672200-72672600	Enhancers	Duodenum Mucosa	Duodenum
31	chr15:72672400-72672800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr15:72672400-72673600	Enhancers	Adipose Nuclei	Adipose
33	chr15:72672400-72674600	Enhancers	HepG2	liver
34	chr15:72672600-72672800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr15:72672600-72672800	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr15:72672600-72672800	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr15:72672600-72673200	Enhancers	Right Atrium	heart

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