Variant report

Variant	nsv527236
Chromosome Location	chr15:73421239-73469535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:230)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:230 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr15:73458357-73458370	K562	blood:	n/a	n/a
2	ATF1	chr15:73438468-73438496	K562	blood:	n/a	n/a
3	BCL3	chr15:73445538-73445768	GM12878	blood:	n/a	n/a
4	BRCA1	chr15:73460990-73461016	Hela-S3	cervix:	n/a	n/a
5	CBX3	chr15:73458231-73458590	K562	blood:	n/a	n/a
6	CBX3	chr15:73458274-73458626	K562	blood:	n/a	n/a
7	CEBPB	chr15:73466822-73466960	HepG2	liver:	n/a	chr15:73466945-73466953 chr15:73466883-73466894
8	CEBPB	chr15:73445819-73446136	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:73445808-73446159	IMR90	lung:	n/a	n/a
10	CEBPB	chr15:73466822-73466924	IMR90	lung:	n/a	chr15:73466883-73466894
11	CEBPB	chr15:73445838-73446089	K562	blood:	n/a	n/a
12	CEBPB	chr15:73445809-73446148	A549	lung:	n/a	n/a
13	CEBPB	chr15:73445805-73446103	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr15:73448760-73448910	A549	lung:	n/a	n/a
15	CTCF	chr15:73462000-73462150	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:73448945-73449036	LNCaP	prostate:	n/a	n/a
17	CTCF	chr15:73460544-73460648	GM19238	blood:	n/a	n/a
18	CTCF	chr15:73443400-73443550	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr15:73448900-73449050	GM12864	blood:	n/a	n/a
20	CTCF	chr15:73448840-73448990	MCF-7	breast:	n/a	n/a
21	CTCF	chr15:73448920-73449070	GM12873	blood:	n/a	n/a
22	CTCF	chr15:73427243-73427302	GM20000	blood:	n/a	n/a
23	CTCF	chr15:73448820-73448970	GM12868	blood:	n/a	n/a
24	CTCF	chr15:73449040-73449190	GM12867	blood:	n/a	n/a
25	CTCF	chr15:73448920-73449070	HepG2	liver:	n/a	n/a
26	CTCF	chr15:73448840-73448990	GM12865	blood:	n/a	n/a
27	CTCF	chr15:73448860-73449010	GM12878	blood:	n/a	n/a
28	CTCF	chr15:73448860-73449010	HCT-116	colon:	n/a	n/a
29	CTCF	chr15:73448500-73448650	GM12872	blood:	n/a	n/a
30	CTCF	chr15:73448900-73449050	GM12872	blood:	n/a	n/a
31	CTCF	chr15:73448855-73449053	GM19238	blood:	n/a	n/a
32	CTCF	chr15:73448640-73448790	HCT-116	colon:	n/a	n/a
33	CTCF	chr15:73448955-73448993	MCF-7	breast:	n/a	n/a
34	CTCF	chr15:73448920-73449070	GM12871	blood:	n/a	n/a
35	CTCF	chr15:73443340-73443490	SAEC	small airway:	n/a	n/a
36	CTCF	chr15:73452816-73452849	GM20000	blood:	n/a	n/a
37	CTCF	chr15:73460555-73460650	MCF-7	breast:	n/a	n/a
38	CTCF	chr15:73448840-73448990	GM12801	blood:	n/a	n/a
39	CTCF	chr15:73443320-73443470	SAEC	small airway:	n/a	n/a
40	CTCF	chr15:73448940-73449090	GM12874	blood:	n/a	n/a
41	CTCF	chr15:73443280-73443430	NHEK	skin:	n/a	n/a
42	CTCF	chr15:73443320-73443470	HEEpiC	esophagus:	n/a	n/a
43	CTCF	chr15:73448846-73449084	GM12878	blood:	n/a	n/a
44	CTCF	chr15:73448760-73448910	HFF-Myc	foreskin:	n/a	n/a
45	CTCF	chr15:73443380-73443530	MCF-7	breast:	n/a	n/a
46	CTCF	chr15:73448920-73449025	HepG2	liver:	n/a	n/a
47	CTCF	chr15:73449180-73449330	GM12871	blood:	n/a	n/a
48	CTCF	chr15:73426720-73426870	Caco-2	colon:	n/a	n/a
49	CTCF	chr15:73448880-73449030	GM12875	blood:	n/a	n/a
50	CTCF	chr15:73448930-73449002	GM12891	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:73440487..73443797-chr15:73445568..73450386,4	MCF-7	breast:
2	chr15:73459727..73462621-chr15:73466911..73469312,2	MCF-7	breast:
3	chr15:73421059..73423677-chr15:73433807..73436410,2	MCF-7	breast:
4	chr15:73449463..73451075-chr15:73451794..73454608,2	MCF-7	breast:
5	chr15:73433416..73435936-chr15:73436842..73439135,2	K562	blood:
6	chr15:73453141..73455526-chr15:73455675..73457846,2	K562	blood:
7	chr15:73463612..73466544-chr15:73496830..73498478,2	MCF-7	breast:
8	chr15:73449463..73451075-chr15:73451794..73454608,2	MCF-7	breast:
9	chr15:73426527..73428787-chr15:73446978..73449108,2	MCF-7	breast:
10	chr15:73075421..73077662-chr15:73422538..73424513,2	MCF-7	breast:
11	chr15:73440487..73443797-chr15:73445568..73450386,4	MCF-7	breast:
12	chr15:73426832..73427680-chr20:53073669..53074543,2	MCF-7	breast:
13	chr15:73414122..73416598-chr15:73451749..73454590,2	MCF-7	breast:
14	chr15:73459727..73462621-chr15:73466911..73469312,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HCN4-3	chr15:73455038-73455269	NONHSAT047134
2	lnc-HCN4-3	chr15:73454120-73454673	NONHSAT047134

No data

Variant related genes	Relation type
FKBP1AP2	TF binding region
NPM1P43	TF binding region
NEO1	TF binding region
ENSG00000259440	chromatin interactions
ENSG00000067141	chromatin interactions
ENSG00000259691	chromatin interactions
ENSG00000159322	chromatin interactions
ENSG00000260898	chromatin interactions

Extended variants
information (count: 1685 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1685 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6495057	chr15:73421239-73421240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs185923672	chr15:73421280-73421281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs568339768	chr15:73421309-73421310	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs536042168	chr15:73421312-73421313	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs535782078	chr15:73421372-73421373	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376663598	chr15:73421448-73421449	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs557183465	chr15:73421500-73421501	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191186967	chr15:73421535-73421536	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7163504	chr15:73421553-73421554	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs183306804	chr15:73421615-73421616	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs188015940	chr15:73421623-73421624	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs374634893	chr15:73421633-73421634	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs534230265	chr15:73421646-73421647	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs34816835	chr15:73421687-73421688	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs190850239	chr15:73421704-73421705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs182713836	chr15:73421742-73421743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs529536746	chr15:73421778-73421779	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544553392	chr15:73421823-73421824	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187996281	chr15:73421896-73421897	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555452014	chr15:73421909-73421910	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551963503	chr15:73421917-73421918	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs146947717	chr15:73421982-73421983	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528217571	chr15:73422030-73422031	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs546603410	chr15:73422031-73422032	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs569764041	chr15:73422064-73422065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs540122950	chr15:73422186-73422187	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs535744935	chr15:73422251-73422252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs557253130	chr15:73422274-73422275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs137932656	chr15:73422290-73422291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146002330	chr15:73422347-73422348	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs560318484	chr15:73422367-73422368	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539229048	chr15:73422411-73422412	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs192835987	chr15:73422503-73422504	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs573243776	chr15:73422519-73422520	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149021283	chr15:73422530-73422531	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs555339969	chr15:73422621-73422622	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs145138188	chr15:73422649-73422650	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs184477748	chr15:73422651-73422652	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs375101337	chr15:73422652-73422653	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs143400093	chr15:73422657-73422658	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs533697174	chr15:73422701-73422702	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs528041156	chr15:73422761-73422762	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs545247680	chr15:73422830-73422831	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs561843734	chr15:73422864-73422865	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs187358659	chr15:73422869-73422870	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs528164474	chr15:73422886-73422887	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs546762495	chr15:73422922-73422923	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs530840965	chr15:73423021-73423022	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs12899246	chr15:73423022-73423023	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564287850	chr15:73423039-73423040	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	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
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:623 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73388800-73431200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:73393200-73422400	Weak transcription	Aorta	Aorta
3	chr15:73396400-73444600	Weak transcription	Psoas Muscle	Psoas
4	chr15:73400400-73434200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:73401200-73423000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:73401200-73428200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:73401400-73422400	Weak transcription	Pancreas	Pancrea
8	chr15:73401400-73422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:73401400-73480200	Weak transcription	Right Ventricle	heart
10	chr15:73403000-73443400	Weak transcription	Fetal Kidney	kidney
11	chr15:73404200-73425800	Weak transcription	Small Intestine	intestine
12	chr15:73404200-73442600	Weak transcription	Left Ventricle	heart
13	chr15:73406600-73422400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:73406600-73423200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:73406600-73425200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr15:73406600-73432600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:73407400-73431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr15:73408000-73443400	Weak transcription	Adipose Nuclei	Adipose
19	chr15:73408800-73424600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:73409200-73422800	Weak transcription	Fetal Muscle Trunk	muscle
21	chr15:73409200-73429200	Weak transcription	Esophagus	oesophagus
22	chr15:73410600-73434600	Weak transcription	Liver	Liver
23	chr15:73410800-73431400	Weak transcription	Colon Smooth Muscle	Colon
24	chr15:73413200-73437200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:73413400-73434200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:73413600-73446400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:73414000-73428200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr15:73414000-73437000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr15:73414000-73440000	Weak transcription	Fetal Brain Female	brain
30	chr15:73414200-73428600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr15:73414200-73445600	Weak transcription	Brain Substantia Nigra	brain
32	chr15:73414400-73458200	Weak transcription	Colonic Mucosa	Colon
33	chr15:73414600-73436600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:73414800-73421800	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr15:73415000-73425400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr15:73415200-73422800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:73415400-73423800	Weak transcription	Fetal Heart	heart
38	chr15:73415400-73446600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:73415600-73428400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr15:73416000-73453200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:73416600-73422200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:73416600-73428400	Weak transcription	Fetal Lung	lung
43	chr15:73416600-73444600	Weak transcription	Fetal Muscle Leg	muscle
44	chr15:73416600-73444600	Weak transcription	Lung	lung
45	chr15:73416800-73422600	Weak transcription	Fetal Stomach	stomach
46	chr15:73416800-73448800	Weak transcription	Ovary	ovary
47	chr15:73417000-73443000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr15:73417400-73423200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:73418200-73433200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr15:73418600-73430600	Weak transcription	Fetal Brain Male	brain

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