Variant report

Variant	nsv519383
Chromosome Location	chr15:78084098-78090630
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	BCL3	chr15:78088327-78088760	GM12878	blood:	n/a	n/a
2	BCL3	chr15:78088304-78088829	GM12878	blood:	n/a	n/a
3	BHLHE40	chr15:78089629-78089938	GM12878	blood:	n/a	n/a
4	CHD2	chr15:78089582-78089843	GM12878	blood:	n/a	n/a
5	CTCF	chr15:78086344-78086366	Kidney_OC	kidney:	n/a	n/a
6	CUX1	chr15:78089707-78089750	GM12878	blood:	n/a	n/a
7	EBF1	chr15:78089642-78089969	GM12878	blood:	n/a	n/a
8	EBF1	chr15:78089680-78090022	GM12878	blood:	n/a	chr15:78089993-78090002
9	ELF1	chr15:78089709-78090157	GM12878	blood:	n/a	n/a
10	ELK1	chr15:78089670-78089922	GM12878	blood:	n/a	n/a
11	EP300	chr15:78089737-78089932	GM12878	blood:	n/a	n/a
12	EP300	chr15:78089640-78089962	GM12878	blood:	n/a	n/a
13	EP300	chr15:78089591-78089908	GM12878	blood:	n/a	n/a
14	HMGN3	chr15:78084544-78084679	K562	blood:	n/a	n/a
15	MAX	chr15:78087833-78088120	NB4	blood:	n/a	chr15:78088025-78088034
16	MAX	chr15:78087825-78088045	K562	blood:	n/a	chr15:78088025-78088034
17	MAX	chr15:78089461-78089914	GM12878	blood:	n/a	n/a
18	MAZ	chr15:78089742-78089792	GM12878	blood:	n/a	n/a
19	MXI1	chr15:78089613-78089813	GM12878	blood:	n/a	n/a
20	MXI1	chr15:78087906-78088054	GM12878	blood:	n/a	n/a
21	MXI1	chr15:78087853-78088122	H1-hESC	embryonic stem cell:	n/a	n/a
22	NFATC1	chr15:78088378-78088825	GM12878	blood:	n/a	n/a
23	NFATC1	chr15:78089643-78089912	GM12878	blood:	n/a	n/a
24	PBX3	chr15:78088443-78088690	GM12878	blood:	n/a	n/a
25	RCOR1	chr15:78089631-78089790	GM12878	blood:	n/a	n/a
26	REST	chr15:78087464-78088421	ECC-1	luminal epithelium:	n/a	chr15:78088047-78088056
27	REST	chr15:78087763-78088157	H1-hESC	embryonic stem cell:	n/a	chr15:78088047-78088056
28	REST	chr15:78087793-78088127	A549	lung:	n/a	chr15:78088047-78088056
29	REST	chr15:78087846-78088086	HepG2	liver:	n/a	chr15:78088047-78088056
30	REST	chr15:78087708-78088188	A549	lung:	n/a	chr15:78088047-78088056
31	REST	chr15:78087562-78088369	ECC-1	luminal epithelium:	n/a	chr15:78088047-78088056
32	REST	chr15:78087775-78088232	GM12878	blood:	n/a	chr15:78088047-78088056
33	REST	chr15:78087734-78088195	HepG2	liver:	n/a	chr15:78088047-78088056
34	REST	chr15:78087774-78088226	PANC-1	pancreas:	n/a	chr15:78088047-78088056
35	REST	chr15:78087772-78088128	Hela-S3	cervix:	n/a	chr15:78088047-78088056
36	REST	chr15:78087824-78088172	HCT-116	colon:	n/a	chr15:78088047-78088056
37	REST	chr15:78087837-78088118	HepG2	liver:	n/a	chr15:78088047-78088056
38	REST	chr15:78087756-78088153	U87	brain:	n/a	chr15:78088047-78088056
39	REST	chr15:78087808-78088138	K562	blood:	n/a	chr15:78088047-78088056
40	REST	chr15:78087731-78088251	PANC-1	pancreas:	n/a	chr15:78088047-78088056
41	REST	chr15:78087756-78088151	U87	brain:	n/a	chr15:78088047-78088056
42	REST	chr15:78087741-78088192	PFSK-1	brain:	n/a	chr15:78088047-78088056
43	REST	chr15:78087806-78088053	PFSK-1	brain:	n/a	n/a
44	REST	chr15:78087698-78088229	PFSK-1	brain:	n/a	chr15:78088047-78088056
45	REST	chr15:78087774-78088162	PANC-1	pancreas:	n/a	chr15:78088047-78088056
46	REST	chr15:78087732-78088178	Hela-S3	cervix:	n/a	chr15:78088047-78088056
47	REST	chr15:78087857-78088125	SK-N-SH	brain:	n/a	chr15:78088047-78088056
48	REST	chr15:78087868-78088166	PANC-1	pancreas:	n/a	chr15:78088047-78088056
49	REST	chr15:78087733-78088274	MCF-7	breast:	n/a	chr15:78088047-78088056
50	REST	chr15:78087755-78088171	H1-hESC	embryonic stem cell:	n/a	chr15:78088047-78088056

No.	Distal block	Cell Line	Cell type
1	chr15:78088888..78092011-chr15:78092368..78096073,3	K562	blood:
2	chr15:78086471..78089118-chr20:52208956..52211312,2	MCF-7	breast:
3	chr15:78083797..78085667-chr15:78106019..78108853,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D2B-7	chr15:78088281-78088395	NONHSAT047460
2	lnc-TBC1D2B-7	chr15:78088281-78088395	NONHSAT047459
3	lnc-TBC1D2B-7	chr15:78088281-78088395	NONHSAT047458

Variant related genes	Relation type
LINGO1	TF binding region
ENSG00000171940	chromatin interactions

Extended variants
information (count: 274 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4243050	chr15:78084098-78084099	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150662892	chr15:78084113-78084114	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs140029947	chr15:78084193-78084194	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530363993	chr15:78084198-78084199	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs115966850	chr15:78084237-78084238	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs564013966	chr15:78084241-78084242	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs531203815	chr15:78084270-78084271	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs552619552	chr15:78084324-78084325	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs77158390	chr15:78084344-78084345	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs527935975	chr15:78084362-78084363	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs528475260	chr15:78084371-78084372	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs199717419	chr15:78084387-78084388	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs547121320	chr15:78084399-78084400	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs548091922	chr15:78084405-78084406	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs535645691	chr15:78084411-78084412	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs550453474	chr15:78084420-78084421	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs568831312	chr15:78084422-78084423	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs539311359	chr15:78084440-78084441	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs557614551	chr15:78084456-78084457	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs572533498	chr15:78084518-78084519	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs533967578	chr15:78084549-78084550	Weak transcription Strong transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs555478765	chr15:78084602-78084603	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs573610144	chr15:78084656-78084657	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs542431232	chr15:78084692-78084693	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs189216057	chr15:78084777-78084778	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs575890962	chr15:78084878-78084879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530303306	chr15:78084885-78084886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377098168	chr15:78084909-78084910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554113503	chr15:78084924-78084925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546550296	chr15:78084938-78084939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564768959	chr15:78084961-78084962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528537659	chr15:78084962-78084963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570158132	chr15:78085125-78085126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546638782	chr15:78085134-78085135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562213011	chr15:78085147-78085148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529338875	chr15:78085158-78085159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555432072	chr15:78085165-78085166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182010727	chr15:78085166-78085167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186946487	chr15:78085171-78085172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539224207	chr15:78085173-78085174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551309492	chr15:78085180-78085181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190232546	chr15:78085263-78085264	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9806264	chr15:78085322-78085323	Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555036896	chr15:78085385-78085386	Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12902298	chr15:78085418-78085419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs537578938	chr15:78085419-78085420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181396357	chr15:78085471-78085472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537223611	chr15:78085539-78085540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185650439	chr15:78085564-78085565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534582300	chr15:78085575-78085576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
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
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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	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

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78073800-78099200	Weak transcription	Right Atrium	heart
2	chr15:78074400-78100800	Weak transcription	Fetal Intestine Small	intestine
3	chr15:78079600-78090400	Weak transcription	Brain Angular Gyrus	brain
4	chr15:78079600-78092400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr15:78079600-78096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:78080400-78090400	Weak transcription	Brain Germinal Matrix	brain
7	chr15:78080400-78095000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:78080600-78088200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:78083200-78084600	Strong transcription	Fetal Brain Female	brain
10	chr15:78083600-78084800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr15:78084000-78085000	Enhancers	Fetal Lung	lung
12	chr15:78084600-78087400	Weak transcription	Fetal Brain Female	brain
13	chr15:78085200-78085400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:78086400-78086600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:78086400-78086600	Enhancers	Pancreas	Pancrea
16	chr15:78086800-78087800	Weak transcription	Pancreas	Pancrea
17	chr15:78087400-78087600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
18	chr15:78087400-78088200	Strong transcription	Fetal Brain Female	brain
19	chr15:78087600-78088200	Bivalent Enhancer	Right Ventricle	heart
20	chr15:78087600-78090800	Enhancers	Dnd41	blood
21	chr15:78087800-78088800	Enhancers	Pancreas	Pancrea
22	chr15:78088000-78088400	Bivalent Enhancer	Thymus	Thymus
23	chr15:78088200-78088800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:78088200-78090800	Weak transcription	Fetal Brain Female	brain
25	chr15:78088200-78092400	Enhancers	Fetal Thymus	thymus
26	chr15:78088400-78088600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:78088600-78088800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr15:78088600-78090400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:78088800-78089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:78088800-78090400	Weak transcription	Pancreas	Pancrea
31	chr15:78089000-78090200	Enhancers	GM12878-XiMat	blood
32	chr15:78089400-78090000	Enhancers	Duodenum Mucosa	Duodenum
33	chr15:78089400-78090200	Enhancers	Fetal Muscle Leg	muscle
34	chr15:78089600-78091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr15:78089800-78090600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:78090000-78091200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr15:78090200-78091800	Weak transcription	Fetal Muscle Leg	muscle
38	chr15:78090400-78090800	Enhancers	Pancreas	Pancrea
39	chr15:78090400-78091000	Enhancers	Brain Angular Gyrus	brain
40	chr15:78090400-78091200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:78090600-78091000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr15:78090600-78091000	Enhancers	Gastric	stomach
43	chr15:78090600-78092000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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