Variant report

Variant	nsv1050650
Chromosome Location	chr15:45096539-45229584
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1406)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:45104072-45104613	HepG2	liver:	n/a	n/a
2	ARID3A	chr15:45181194-45181211	K562	blood:	n/a	n/a
3	ARID3A	chr15:45145528-45145856	HepG2	liver:	n/a	n/a
4	ARID3A	chr15:45112947-45113068	K562	blood:	n/a	n/a
5	ARID3A	chr15:45125283-45125468	HepG2	liver:	n/a	n/a
6	ARID3A	chr15:45128282-45128791	HepG2	liver:	n/a	n/a
7	ARID3A	chr15:45205265-45205621	HepG2	liver:	n/a	n/a
8	ARID3A	chr15:45123098-45123535	HepG2	liver:	n/a	n/a
9	ARID3A	chr15:45123189-45123508	K562	blood:	n/a	n/a
10	ATF1	chr15:45182020-45182040	K562	blood:	n/a	n/a
11	ATF1	chr15:45168202-45168273	K562	blood:	n/a	n/a
12	ATF1	chr15:45123175-45123515	K562	blood:	n/a	n/a
13	ATF1	chr15:45145566-45145860	K562	blood:	n/a	n/a
14	ATF1	chr15:45110150-45110343	K562	blood:	n/a	n/a
15	ATF1	chr15:45112841-45113209	K562	blood:	n/a	n/a
16	ATF2	chr15:45203385-45203780	GM12878	blood:	n/a	n/a
17	ATF2	chr15:45203414-45203775	GM12878	blood:	n/a	n/a
18	ATF2	chr15:45174666-45175297	GM12878	blood:	n/a	n/a
19	ATF2	chr15:45174555-45175594	GM12878	blood:	n/a	n/a
20	BACH1	chr15:45146115-45146175	K562	blood:	n/a	n/a
21	BATF	chr15:45145545-45145867	GM12878	blood:	n/a	n/a
22	BATF	chr15:45214951-45215126	GM12878	blood:	n/a	n/a
23	BATF	chr15:45191999-45192251	GM12878	blood:	n/a	n/a
24	BATF	chr15:45191947-45192347	GM12878	blood:	n/a	n/a
25	BATF	chr15:45203489-45203757	GM12878	blood:	n/a	chr15:45203595-45203606 chr15:45203708-45203717
26	BATF	chr15:45204924-45205158	GM12878	blood:	n/a	chr15:45204943-45204952
27	BATF	chr15:45174500-45176189	GM12878	blood:	n/a	n/a
28	BATF	chr15:45131114-45131510	GM12878	blood:	n/a	n/a
29	BATF	chr15:45174732-45175340	GM12878	blood:	n/a	n/a
30	BATF	chr15:45175615-45176106	GM12878	blood:	n/a	n/a
31	BATF	chr15:45203408-45203799	GM12878	blood:	n/a	chr15:45203595-45203606 chr15:45203708-45203717
32	BATF	chr15:45131166-45131498	GM12878	blood:	n/a	n/a
33	BCL11A	chr15:45175417-45176211	GM12878	blood:	n/a	n/a
34	BCL11A	chr15:45175527-45176004	GM12878	blood:	n/a	n/a
35	BCL11A	chr15:45137220-45137412	GM12878	blood:	n/a	n/a
36	BCL11A	chr15:45174655-45175245	GM12878	blood:	n/a	n/a
37	BCL11A	chr15:45203459-45203776	GM12878	blood:	n/a	chr15:45203595-45203604 chr15:45203594-45203603
38	BCL11A	chr15:45131165-45131444	GM12878	blood:	n/a	chr15:45131356-45131365
39	BCL11A	chr15:45191932-45192270	GM12878	blood:	n/a	n/a
40	BCL11A	chr15:45174637-45175348	GM12878	blood:	n/a	n/a
41	BCL3	chr15:45174662-45175296	GM12878	blood:	n/a	n/a
42	BCLAF1	chr15:45174315-45175214	GM12878	blood:	n/a	n/a
43	BCLAF1	chr15:45173453-45173866	GM12878	blood:	n/a	n/a
44	BCLAF1	chr15:45145496-45145860	GM12878	blood:	n/a	n/a
45	BCLAF1	chr15:45174481-45175331	GM12878	blood:	n/a	n/a
46	BHLHE40	chr15:45112806-45113087	K562	blood:	n/a	n/a
47	BHLHE40	chr15:45174566-45175326	GM12878	blood:	n/a	n/a
48	BHLHE40	chr15:45145489-45145849	HepG2	liver:	n/a	n/a
49	BHLHE40	chr15:45175681-45176068	GM12878	blood:	n/a	n/a
50	BHLHE40	chr15:45111516-45111681	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45003163..45005190-chr15:45225441..45227864,2	K562	blood:
2	chr15:45094810..45096971-chr15:45098706..45103803,4	K562	blood:
3	chr15:45094810..45097168-chr15:45098428..45100206,2	K562	blood:
4	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:
5	chr15:45003576..45005117-chr15:45094891..45096857,2	K562	blood:
6	chr15:45153661..45154310-chr15:45315073..45315837,2	NB4	blood:
7	chr15:45002455..45004685-chr15:45109842..45111861,2	K562	blood:
8	chr15:45098451..45101074-chr15:45104343..45106886,2	K562	blood:
9	chr15:45094810..45097168-chr15:45098428..45100206,2	K562	blood:
10	chr15:45094810..45096971-chr15:45098706..45103803,4	K562	blood:
11	chr15:45088575..45090576-chr15:45093916..45096665,2	K562	blood:
12	chr15:45098451..45101074-chr15:45104343..45106886,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf43-1	chr15:45212156-45213018	NONHSAT042202
2	lnc-C15orf43-1	chr15:45211574-45211851	NONHSAT042202
3	lnc-C15orf43-2	chr15:45174295-45174981	NONHSAT042199
4	lnc-TRIM69-1	chr15:45118738-45118965	ENSG00000259187.1
5	lnc-TRIM69-1	chr15:45119097-45119292	ENSG00000259187.1

No data

Variant related genes	Relation type
ENSG00000259479	TF binding region
ENSG00000259187	TF binding region
ENSG00000238845	TF binding region
RNU1-119P	TF binding region
ENSG00000259742	TF binding region
RNU6-1108P	TF binding region
ENSG00000259231	TF binding region
ENSG00000229474	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000140263	chromatin interactions

Extended variants
information (count: 3817 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:3817 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16952664	chr15:45096539-45096540	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535871055	chr15:45096542-45096543	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551079387	chr15:45096546-45096547	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140064924	chr15:45096571-45096572	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs182427784	chr15:45096584-45096585	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572933137	chr15:45096635-45096636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150377204	chr15:45096702-45096703	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs16952666	chr15:45096729-45096730	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75324392	chr15:45096734-45096735	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs16952667	chr15:45096735-45096736	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs540075965	chr15:45096775-45096776	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544094993	chr15:45096814-45096815	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs370232181	chr15:45096882-45096883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138067122	chr15:45096912-45096913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543080442	chr15:45096917-45096918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114802055	chr15:45096920-45096921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115918712	chr15:45096931-45096932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187061411	chr15:45096994-45096995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2443980	chr15:45097018-45097019	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs530638071	chr15:45097034-45097035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550438049	chr15:45097057-45097058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567257005	chr15:45097063-45097064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145999863	chr15:45097064-45097065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535834831	chr15:45097086-45097087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192245964	chr15:45097091-45097092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138349889	chr15:45097095-45097096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538687968	chr15:45097121-45097122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16954720	chr15:45097146-45097147	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184588828	chr15:45097155-45097156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142866666	chr15:45097177-45097178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs16952671	chr15:45097181-45097182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs574428571	chr15:45097185-45097186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16952675	chr15:45097201-45097202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140024518	chr15:45097249-45097250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190371242	chr15:45097253-45097254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531495444	chr15:45097264-45097265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72720056	chr15:45097304-45097305	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs565261473	chr15:45097320-45097321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs193292206	chr15:45097394-45097395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550400879	chr15:45097396-45097397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567220118	chr15:45097414-45097415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529891085	chr15:45097424-45097425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs8029755	chr15:45097445-45097446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371353461	chr15:45097493-45097494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs16954452	chr15:45097521-45097522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566430644	chr15:45097531-45097532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs538278319	chr15:45097582-45097583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs62026004	chr15:45097602-45097603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552229651	chr15:45097632-45097633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569010034	chr15:45097655-45097656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45081200-45103600	Weak transcription	Pancreas	Pancrea
2	chr15:45094600-45097600	Enhancers	HUVEC	blood vessel
3	chr15:45094600-45105400	Weak transcription	Fetal Heart	heart
4	chr15:45094800-45111600	Weak transcription	Right Atrium	heart
5	chr15:45095200-45096800	Weak transcription	GM12878-XiMat	blood
6	chr15:45096200-45096600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:45096800-45097200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:45096800-45097600	Enhancers	GM12878-XiMat	blood
9	chr15:45097000-45097200	Enhancers	Left Ventricle	heart
10	chr15:45100600-45101000	Enhancers	HepG2	liver
11	chr15:45101000-45102000	Weak transcription	HepG2	liver
12	chr15:45101400-45104800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr15:45102000-45103000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr15:45102000-45104200	Enhancers	HepG2	liver
15	chr15:45102000-45106200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:45102200-45102400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr15:45102200-45102400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr15:45102200-45104400	Enhancers	Duodenum Mucosa	Duodenum
19	chr15:45102200-45106200	Enhancers	Fetal Intestine Large	intestine
20	chr15:45102400-45102800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr15:45102400-45103800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:45102600-45102800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr15:45102600-45106400	Enhancers	Liver	Liver
24	chr15:45102800-45104000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:45102800-45105800	Enhancers	Fetal Intestine Small	intestine
26	chr15:45102800-45106200	Enhancers	Stomach Mucosa	stomach
27	chr15:45102800-45106200	Enhancers	Dnd41	blood
28	chr15:45103000-45105000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr15:45103400-45104000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr15:45103400-45104400	Enhancers	Fetal Thymus	thymus
31	chr15:45103400-45104800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:45103400-45104800	Enhancers	HMEC	breast
33	chr15:45103400-45104800	Enhancers	K562	blood
34	chr15:45103600-45104600	Enhancers	Esophagus	oesophagus
35	chr15:45103600-45104800	Enhancers	Pancreas	Pancrea
36	chr15:45103800-45104600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:45103800-45104600	Enhancers	NHEK	skin
38	chr15:45104000-45104200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:45104000-45104400	Enhancers	A549	lung
40	chr15:45104000-45104600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:45104200-45104600	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr15:45104200-45104800	Enhancers	Gastric	stomach
43	chr15:45104200-45104800	Enhancers	Left Ventricle	heart
44	chr15:45104200-45104800	Flanking Active TSS	HepG2	liver
45	chr15:45104400-45104800	Active TSS	Duodenum Mucosa	Duodenum
46	chr15:45104600-45104800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
47	chr15:45104800-45105600	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr15:45104800-45106200	Enhancers	Duodenum Mucosa	Duodenum
49	chr15:45104800-45106200	Enhancers	HepG2	liver
50	chr15:45104800-45109200	Weak transcription	K562	blood

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