Variant report

Variant	nsv984100
Chromosome Location	chr15:82615006-82630313
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:82628810-82629112	GM12878	blood:	n/a	chr15:82628929-82628940 chr15:82628930-82628940
2	BATF	chr15:82628844-82629008	GM12878	blood:	n/a	chr15:82628929-82628940 chr15:82628930-82628940
3	BATF	chr15:82624274-82624643	GM12878	blood:	n/a	n/a
4	BCL11A	chr15:82628765-82629006	GM12878	blood:	n/a	n/a
5	BCL11A	chr15:82624250-82624656	GM12878	blood:	n/a	n/a
6	CTCF	chr15:82621506-82621586	GM12892	blood:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
7	CTCF	chr15:82621562-82621584	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr15:82621482-82621658	A549	lung:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
9	CTCF	chr15:82621486-82621650	MCF-7	breast:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
10	CTCF	chr15:82621558-82621581	GM19240	blood:	n/a	n/a
11	CTCF	chr15:82621462-82621647	NHEK	skin:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
12	CTCF	chr15:82621489-82621682	GM10266	blood:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
13	CTCF	chr15:82621508-82621602	MCF-7	breast:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
14	CTCF	chr15:82621512-82621598	MCF-7	breast:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
15	CTCF	chr15:82621477-82621617	LNCaP	prostate:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
16	CTCF	chr15:82621388-82621692	A549	lung:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
17	CTCF	chr15:82621402-82621729	A549	lung:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
18	CTCF	chr15:82621290-82621690	K562	blood:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
19	CTCF	chr15:82627024-82627159	LNCaP	prostate:	n/a	chr15:82627102-82627123 chr15:82627100-82627118
20	CTCF	chr15:82627116-82627127	Medullo	brain:	n/a	n/a
21	CTCF	chr15:82621413-82621661	A549	lung:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
22	CTCF	chr15:82619677-82619746	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr15:82627996-82628103	Lung_OC	lung:	n/a	n/a
24	CTCF	chr15:82623752-82623823	GM10248	blood:	n/a	n/a
25	CTCF	chr15:82621346-82621637	K562	blood:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
26	CTCF	chr15:82627025-82627244	GM10266	blood:	n/a	chr15:82627102-82627123 chr15:82627100-82627118
27	CTCF	chr15:82621544-82621598	Hela-S3	cervix:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
28	CTCF	chr15:82621447-82621678	K562	blood:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
29	CTCF	chr15:82623241-82623371	GM10248	blood:	n/a	n/a
30	CTCF	chr15:82621506-82621581	K562	blood:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
31	CTCF	chr15:82614927-82615049	GM13977	blood:	n/a	n/a
32	CTCF	chr15:82621729-82621797	GM20000	blood:	n/a	n/a
33	CTCF	chr15:82621480-82621639	GM10248	blood:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
34	CTCF	chr15:82626065-82626102	Gliobla	brain:	n/a	n/a
35	CTCF	chr15:82621522-82621635	LNCaP	prostate:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
36	CTCF	chr15:82621526-82621587	Pancreas_OC	pancreas:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
37	CTCF	chr15:82621562-82621575	HepG2	liver:	n/a	n/a
38	CTCF	chr15:82621585-82621627	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr15:82627051-82627183	GM13977	blood:	n/a	chr15:82627102-82627123 chr15:82627100-82627118
40	CTCF	chr15:82627334-82627379	GM13976	blood:	n/a	n/a
41	CTCF	chr15:82627684-82627754	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr15:82621488-82621614	GM12891	blood:	n/a	chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
43	CTCF	chr15:82627577-82627626	GM13976	blood:	n/a	n/a
44	CTCF	chr15:82621518-82621546	GM12878	blood:	n/a	n/a
45	CTCF	chr15:82621315-82621786	A549	lung:	n/a	chr15:82621626-82621639 chr15:82621552-82621570 chr15:82621554-82621567 chr15:82621553-82621569 chr15:82621547-82621568
46	CTCF	chr15:82627065-82627135	H1-hESC	embryonic stem cell:	n/a	chr15:82627102-82627123 chr15:82627100-82627118
47	CTCF	chr15:82625963-82625975	LNCaP	prostate:	n/a	n/a
48	EBF1	chr15:82621451-82621773	GM12878	blood:	n/a	n/a
49	EBF1	chr15:82628700-82629065	GM12878	blood:	n/a	n/a
50	EBF1	chr15:82628634-82629144	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:82623834-82623884	HCPEpiC	choroid plexus:	n/a
2	chr15:82623834-82623884	NB4	blood:	n/a
3	chr15:82618004-82618054	AG09309	skin:	n/a
4	chr15:82618004-82618054	ovcar-3	ovarian:	n/a
5	chr15:82623834-82623884	HCM	heart:	n/a
6	chr15:82618004-82618054	HRCEpiC	kidney:	n/a
7	chr15:82623834-82623884	H1-hESC	embryonic stem cell:	embryo
8	chr15:82618004-82618054	HIPEpiC	eye:	n/a
9	chr15:82618004-82618054	GM12892	blood:	n/a
10	chr15:82618004-82618054	HEEpiC	esophagus:	n/a
11	chr15:82623834-82623884	BE2_C	brain:	n/a
12	chr15:82623834-82623884	PANC-1	pancreas:	n/a
13	chr15:82618004-82618054	HCF	heart:	n/a
14	chr15:82618004-82618054	T-47D	breast:	n/a
15	chr15:82618004-82618054	ProgFib	skin:	n/a
16	chr15:82623834-82623884	PFSK-1	brain:	n/a
17	chr15:82623834-82623884	NH-A	brain:	n/a
18	chr15:82623834-82623884	SK-N-MC	brain:	n/a
19	chr15:82623834-82623884	Caco-2	colon:	n/a
20	chr15:82623834-82623884	U87	brain:	n/a
21	chr15:82618004-82618054	Caco-2	colon:	n/a
22	chr15:82623834-82623884	GM12878	blood:	n/a
23	chr15:82618004-82618054	HCPEpiC	choroid plexus:	n/a
24	chr15:82618004-82618054	AG09319	gingival:	n/a
25	chr15:82623834-82623884	HPAEpiC	pulmonary alveolar:	n/a
26	chr15:82618004-82618054	Jurkat	blood:	n/a
27	chr15:82618004-82618054	SK-N-SH_RA	brain:	n/a
28	chr15:82623834-82623884	HUVEC	blood vessel:	n/a
29	chr15:82623834-82623884	HRE	kidney:	n/a
30	chr15:82623834-82623884	HEK293	kidney:	embryo
31	chr15:82623834-82623884	SKMC	muscle:	n/a
32	chr15:82618004-82618054	BE2_C	brain:	n/a
33	chr15:82623834-82623884	NHBE	bronchial:	n/a
34	chr15:82623834-82623884	Hepatocyte	liver:	n/a
35	chr15:82618004-82618054	SK-N-SH	brain:	n/a
36	chr15:82623834-82623884	HL-60	blood:	n/a
37	chr15:82618004-82618054	IMR90	lung:	fetal
38	chr15:82618004-82618054	GM12891	blood:	n/a
39	chr15:82623834-82623884	T-47D	breast:	n/a
40	chr15:82618004-82618054	RPTEC	kidney:	n/a
41	chr15:82623834-82623884	CMK	blood:	n/a
42	chr15:82618004-82618054	BJ	skin:	n/a
43	chr15:82618004-82618054	HCT-116	colon:	n/a
44	chr15:82623834-82623884	HepG2	liver:	n/a
45	chr15:82618004-82618054	CMK	blood:	n/a
46	chr15:82623834-82623884	LNCaP	prostate:	n/a
47	chr15:82618004-82618054	AG04450	lung:	fetal
48	chr15:82618004-82618054	MCF-7	breast:	n/a
49	chr15:82618004-82618054	NB4	blood:	n/a
50	chr15:82623834-82623884	HIPEpiC	eye:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM154B-1	chr15:82620233-82620571	NONHSAT047777

Variant related genes	Relation type
ADAMTS7P1	TF binding region
ADAMTS7P1	CpG island

Extended variants
information (count: 24 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62010094	chr15:82618652-82618653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs62010097	chr15:82619739-82619740	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs563554721	chr15:82620261-82620262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs141755317	chr15:82620272-82620273	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs545792395	chr15:82620303-82620304	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs56691927	chr15:82620307-82620308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs62010099	chr15:82620354-82620355	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs547482733	chr15:82620365-82620366	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs58875180	chr15:82620453-82620454	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs59843064	chr15:82620454-82620455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567461644	chr15:82620505-82620506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs530215106	chr15:82620509-82620510	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs373405493	chr15:82620539-82620540	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549988749	chr15:82620546-82620547	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs570171348	chr15:82620557-82620558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs539279830	chr15:82620562-82620563	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs558991341	chr15:82620563-82620564	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs565666934	chr15:82620565-82620566	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs184292627	chr15:82623845-82623846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75682514	chr15:82624062-82624063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79593888	chr15:82624084-82624085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76188209	chr15:82624095-82624096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561023859	chr15:82624098-82624099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs530104866	chr15:82624178-82624179	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	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
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	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82623800-82624400	Enhancers	Fetal Thymus	thymus

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