Variant report

Variant	nsv569916
Chromosome Location	chr15:72268986-72325595
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:21)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72297045..72298608-chr15:72298736..72301156,2	MCF-7	breast:
2	chr15:72262124..72264073-chr15:72266768..72269290,2	K562	blood:
3	chr15:72296226..72298848-chr15:72307966..72310000,2	K562	blood:
4	chr15:72324783..72327632-chr15:72328181..72330697,2	MCF-7	breast:
5	chr15:72282427..72284925-chr15:72286751..72289211,2	K562	blood:
6	chr15:72297045..72298608-chr15:72298736..72301156,2	MCF-7	breast:
7	chr15:72274005..72275804-chr15:72283955..72286549,2	MCF-7	breast:
8	chr15:72262884..72265663-chr15:72272089..72274316,2	K562	blood:
9	chr15:72274005..72275804-chr15:72283955..72286549,2	MCF-7	breast:
10	chr15:72318371..72321046-chr15:72324463..72327168,2	K562	blood:
11	chr15:72284044..72286331-chr15:72302500..72304124,2	K562	blood:
12	chr15:72287720..72291695-chr15:72296118..72297805,3	MCF-7	breast:
13	chr15:72284044..72286331-chr15:72302500..72304124,2	K562	blood:
14	chr15:72296226..72298848-chr15:72307966..72310000,2	K562	blood:
15	chr15:72322441..72324750-chr15:72328303..72329981,2	MCF-7	breast:
16	chr15:72292779..72294305-chr15:72296375..72298824,2	K562	blood:
17	chr15:72282427..72284925-chr15:72286751..72289211,2	K562	blood:
18	chr15:72292779..72294305-chr15:72296375..72298824,2	K562	blood:
19	chr15:72287720..72291695-chr15:72296118..72297805,3	MCF-7	breast:
20	chr15:72318371..72321046-chr15:72324463..72327168,2	K562	blood:
21	chr15:72304128..72305861-chr15:72523185..72525011,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SENP8-1	chr15:72286034-72286129	ENSG00000261632.1
2	lnc-SENP8-1	chr15:72291354-72291421	ENSG00000261632.1

No data

Variant related genes	Relation type
ENSG00000261632	chromatin interactions
ENSG00000067225	chromatin interactions

Extended variants
information (count: 1935 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1935 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10518979	chr15:72268986-72268987	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573117328	chr15:72269010-72269011	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376731096	chr15:72269018-72269019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145799792	chr15:72269085-72269086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs75001873	chr15:72269105-72269106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547292357	chr15:72269184-72269185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562071795	chr15:72269186-72269187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143069767	chr15:72269223-72269224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547822574	chr15:72269302-72269303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188500290	chr15:72269329-72269330	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148201983	chr15:72269334-72269335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2929528	chr15:72269337-72269338	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs576304139	chr15:72269374-72269375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11635817	chr15:72269552-72269553	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs534588170	chr15:72269566-72269567	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150494423	chr15:72269573-72269574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4777477	chr15:72269612-72269613	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs532909798	chr15:72269630-72269631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535844069	chr15:72269638-72269639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12101457	chr15:72269645-72269646	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117190966	chr15:72269646-72269647	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546291875	chr15:72269651-72269652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558038772	chr15:72269656-72269657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181689471	chr15:72269681-72269682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540458729	chr15:72269688-72269689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562035044	chr15:72269733-72269734	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184255031	chr15:72269771-72269772	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541379713	chr15:72269776-72269777	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562955761	chr15:72269824-72269825	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28678031	chr15:72269832-72269833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530490399	chr15:72269883-72269884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189454156	chr15:72269884-72269885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570483942	chr15:72269927-72269928	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182246350	chr15:72269929-72269930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76915128	chr15:72269966-72269967	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372716402	chr15:72270002-72270003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186039607	chr15:72270116-72270117	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190848754	chr15:72270157-72270158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376991801	chr15:72270160-72270161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557355487	chr15:72270182-72270183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181313315	chr15:72270205-72270206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569063778	chr15:72270206-72270207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558215051	chr15:72270248-72270249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573296529	chr15:72270340-72270341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185862473	chr15:72270365-72270366	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555586457	chr15:72270373-72270374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142961945	chr15:72270375-72270376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573985096	chr15:72270400-72270401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565597802	chr15:72270405-72270406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111512348	chr15:72270414-72270415	Weak transcription Strong transcription	n/a	n/a	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic cancer	17952125	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:705 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
4	chr15:72225000-72305600	Weak transcription	Gastric	stomach
5	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr15:72227600-72281600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr15:72227600-72281800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:72227800-72281600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr15:72227800-72326200	Weak transcription	Fetal Brain Male	brain
13	chr15:72228800-72279600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr15:72228800-72281600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr15:72230600-72291000	Weak transcription	Primary B cells from cord blood	blood
16	chr15:72240200-72282200	Weak transcription	Aorta	Aorta
17	chr15:72244200-72269400	Weak transcription	HSMM	muscle
18	chr15:72244200-72281800	Weak transcription	Brain Germinal Matrix	brain
19	chr15:72244400-72269400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:72244400-72298600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr15:72244600-72269400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:72244800-72281600	Weak transcription	Brain Cingulate Gyrus	brain
23	chr15:72246600-72293600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:72247800-72281600	Weak transcription	Liver	Liver
25	chr15:72250200-72281600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:72250200-72291200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:72253000-72281600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:72255200-72284000	Weak transcription	Stomach Mucosa	stomach
29	chr15:72255400-72281600	Weak transcription	A549	lung
30	chr15:72257200-72282200	Weak transcription	Thymus	Thymus
31	chr15:72257400-72281600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr15:72257600-72281600	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:72259800-72281600	Weak transcription	Brain Substantia Nigra	brain
34	chr15:72260000-72281800	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr15:72260400-72269600	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr15:72260400-72274600	Weak transcription	HUVEC	blood vessel
37	chr15:72260400-72281600	Weak transcription	Colon Smooth Muscle	Colon
38	chr15:72260400-72291200	Weak transcription	Brain Anterior Caudate	brain
39	chr15:72260400-72301000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr15:72261000-72326200	Weak transcription	NH-A	brain
41	chr15:72262000-72269600	Weak transcription	Ovary	ovary
42	chr15:72262400-72293000	Weak transcription	Small Intestine	intestine
43	chr15:72262600-72291000	Weak transcription	NHDF-Ad	bronchial
44	chr15:72262800-72281600	Weak transcription	Osteobl	bone
45	chr15:72263400-72281600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:72263400-72281800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr15:72263600-72300400	Weak transcription	NHLF	lung
48	chr15:72264000-72281600	Weak transcription	Fetal Brain Female	brain
49	chr15:72264000-72301800	Weak transcription	Colonic Mucosa	Colon
50	chr15:72264200-72270400	Strong transcription	Fetal Muscle Trunk	muscle

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