Variant report

Variant	nsv570172
Chromosome Location	chr15:78088127-78111702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77923251..77928296-chr15:78111448..78115771,8	MCF-7	breast:
2	chr15:78088888..78092011-chr15:78092368..78096073,3	K562	blood:
3	chr15:78099210..78100960-chr15:78102155..78104684,2	K562	blood:
4	chr15:78041656..78043427-chr15:78100097..78102130,2	MCF-7	breast:
5	chr15:78093726..78095482-chr15:78109302..78111368,2	K562	blood:
6	chr15:78093726..78095482-chr15:78109302..78111368,2	K562	blood:
7	chr15:77925072..77927787-chr15:78111223..78115888,59	MCF-7	breast:
8	chr15:78083797..78085667-chr15:78106019..78108853,2	K562	blood:
9	chr15:78097737..78099826-chr15:78103179..78105100,2	MCF-7	breast:
10	chr15:78092486..78095378-chr15:78106571..78109428,2	K562	blood:
11	chr15:78109668..78112280-chr15:78112604..78115106,3	MCF-7	breast:
12	chr15:78107758..78109313-chr15:78111361..78113671,2	K562	blood:
13	chr15:78086471..78089118-chr20:52208956..52211312,2	MCF-7	breast:
14	chr15:78088888..78092011-chr15:78092368..78096073,3	K562	blood:
15	chr15:77917906..77920772-chr15:78100061..78102458,2	K562	blood:
16	chr15:78097066..78100710-chr15:78102142..78106147,5	K562	blood:
17	chr15:78097737..78099826-chr15:78103179..78105100,2	MCF-7	breast:
18	chr15:78103078..78104823-chr15:78106896..78108558,2	K562	blood:
19	chr15:77948459..77951097-chr15:78104975..78107913,2	MCF-7	breast:
20	chr15:78097066..78100710-chr15:78102142..78106147,5	K562	blood:
21	chr15:78092486..78095378-chr15:78106571..78109428,2	K562	blood:
22	chr15:78099210..78100960-chr15:78102155..78104684,2	K562	blood:
23	chr15:78103078..78104823-chr15:78106896..78108558,2	K562	blood:
24	chr15:78097465..78099114-chr15:78102921..78104806,2	K562	blood:
25	chr15:78097465..78099114-chr15:78102921..78104806,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TBC1D2B-7	chr15:78111613-78111870	NONHSAT047458
2	lnc-TBC1D2B-7	chr15:78088281-78088395	NONHSAT047459
3	lnc-TBC1D2B-7	chr15:78088281-78088395	NONHSAT047460
4	lnc-TBC1D2B-7	chr15:78088281-78088395	NONHSAT047458

No data

Variant related genes	Relation type
ENSG00000171940	chromatin interactions
ENSG00000169783	chromatin interactions

Extended variants
information (count: 958 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:958 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11855944	chr15:78088127-78088128	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs536785406	chr15:78088179-78088180	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs554742947	chr15:78088182-78088183	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs11852404	chr15:78088202-78088203	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377195868	chr15:78088228-78088229	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs543631174	chr15:78088260-78088261	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558900107	chr15:78088275-78088276	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs577161832	chr15:78088284-78088285	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs540691535	chr15:78088324-78088325	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs559266497	chr15:78088351-78088352	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs529636350	chr15:78088390-78088391	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs560975626	chr15:78088402-78088403	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541956003	chr15:78088443-78088444	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563035070	chr15:78088450-78088451	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs531798159	chr15:78088467-78088468	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs185603214	chr15:78088468-78088469	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs369634138	chr15:78088478-78088479	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs8025671	chr15:78088518-78088519	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75240825	chr15:78088520-78088521	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs76874265	chr15:78088526-78088527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190133742	chr15:78088543-78088544	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs566090977	chr15:78088563-78088564	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs536245806	chr15:78088615-78088616	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372333332	chr15:78088616-78088617	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs555083100	chr15:78088645-78088646	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570123939	chr15:78088649-78088650	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs371886083	chr15:78088652-78088653	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs145431085	chr15:78088653-78088654	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537246343	chr15:78088705-78088706	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376225334	chr15:78088706-78088707	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs369281069	chr15:78088731-78088732	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs577224173	chr15:78088769-78088770	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541346617	chr15:78088804-78088805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552990755	chr15:78088805-78088806	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574415370	chr15:78088855-78088856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs57112407	chr15:78088914-78088915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563049495	chr15:78088996-78088997	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs546583160	chr15:78089054-78089055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59535084	chr15:78089067-78089068	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs397802325	chr15:78089068-78089069	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8030690	chr15:78089099-78089100	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543625859	chr15:78089125-78089126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541806816	chr15:78089155-78089156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs8031150	chr15:78089156-78089157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565174717	chr15:78089163-78089164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145627545	chr15:78089184-78089185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138237933	chr15:78089194-78089195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566229533	chr15:78089208-78089209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181667193	chr15:78089218-78089219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548556695	chr15:78089227-78089228	Weak transcription Enhancers	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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr15:78087400-78088200	Strong transcription	Fetal Brain Female	brain
10	chr15:78087600-78088200	Bivalent Enhancer	Right Ventricle	heart
11	chr15:78087600-78090800	Enhancers	Dnd41	blood
12	chr15:78087800-78088800	Enhancers	Pancreas	Pancrea
13	chr15:78088000-78088400	Bivalent Enhancer	Thymus	Thymus
14	chr15:78088200-78088800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:78088200-78090800	Weak transcription	Fetal Brain Female	brain
16	chr15:78088200-78092400	Enhancers	Fetal Thymus	thymus
17	chr15:78088400-78088600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:78088600-78088800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr15:78088600-78090400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:78088800-78089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:78088800-78090400	Weak transcription	Pancreas	Pancrea
22	chr15:78089000-78090200	Enhancers	GM12878-XiMat	blood
23	chr15:78089400-78090000	Enhancers	Duodenum Mucosa	Duodenum
24	chr15:78089400-78090200	Enhancers	Fetal Muscle Leg	muscle
25	chr15:78089600-78091200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr15:78089800-78090600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:78090000-78091200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr15:78090200-78091800	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:78090400-78090800	Enhancers	Pancreas	Pancrea
30	chr15:78090400-78091000	Enhancers	Brain Angular Gyrus	brain
31	chr15:78090400-78091200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:78090600-78091000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr15:78090600-78091000	Enhancers	Gastric	stomach
34	chr15:78090600-78092000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:78090800-78091200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr15:78090800-78091600	Enhancers	Fetal Brain Female	brain
37	chr15:78090800-78096600	Weak transcription	Pancreas	Pancrea
38	chr15:78091000-78091400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:78091400-78092800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:78091400-78092800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:78091600-78092200	Enhancers	H1 Cell Line	embryonic stem cell
42	chr15:78091600-78092400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr15:78091600-78094800	Weak transcription	Fetal Brain Female	brain
44	chr15:78091800-78092600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr15:78091800-78093000	Enhancers	Fetal Muscle Leg	muscle
46	chr15:78092000-78094000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr15:78092200-78092400	Bivalent Enhancer	Right Ventricle	heart
48	chr15:78092200-78092600	Enhancers	Thymus	Thymus
49	chr15:78092200-78092800	Enhancers	Brain Hippocampus Middle	brain
50	chr15:78092200-78096400	Weak transcription	H1 Cell Line	embryonic stem cell

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