Variant report

Variant	nsv570145
Chromosome Location	chr15:77999436-78012025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:120)
CpG islands
(count:62)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:120 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:78004964-78005009	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr15:78011949-78012314	GM12878	blood:	n/a	n/a
3	BCL3	chr15:78008726-78009098	GM12878	blood:	n/a	n/a
4	BCL3	chr15:78008746-78009107	GM12878	blood:	n/a	n/a
5	CEBPB	chr15:78001895-78002100	K562	blood:	n/a	n/a
6	CEBPB	chr15:78002959-78002977	K562	blood:	n/a	n/a
7	CEBPB	chr15:78001873-78002076	HepG2	liver:	n/a	n/a
8	CTCF	chr15:78001920-78002070	Caco-2	colon:	n/a	n/a
9	CTCF	chr15:78001900-78002050	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr15:78009413-78009483	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr15:78011914-78011934	Lung_OC	lung:	n/a	n/a
12	CTCF	chr15:78001898-78002137	K562	blood:	n/a	n/a
13	CTCF	chr15:78009420-78009570	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr15:78002009-78002051	Gliobla	brain:	n/a	n/a
15	CTCF	chr15:78002015-78002068	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:78004864-78005014	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr15:78001973-78002103	A549	lung:	n/a	n/a
18	CTCF	chr15:78001988-78002079	HepG2	liver:	n/a	n/a
19	CTCF	chr15:78011840-78011904	K562	blood:	n/a	n/a
20	CTCF	chr15:78001901-78002096	HepG2	liver:	n/a	n/a
21	CTCF	chr15:78001940-78002090	A549	lung:	n/a	n/a
22	CTCF	chr15:78002000-78002150	MCF-7	breast:	n/a	n/a
23	CTCF	chr15:78001960-78002110	HepG2	liver:	n/a	n/a
24	CTCF	chr15:78001980-78002130	K562	blood:	n/a	n/a
25	CTCF	chr15:78002020-78002170	AG09309	skin:	n/a	n/a
26	CTCF	chr15:78001900-78002050	HepG2	liver:	n/a	n/a
27	CTCF	chr15:78001920-78002070	GM12869	blood:	n/a	n/a
28	CTCF	chr15:78001959-78002110	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr15:78001960-78002110	AG09309	skin:	n/a	n/a
30	CTCF	chr15:78005381-78005462	Lung_OC	lung:	n/a	n/a
31	CTCF	chr15:78009740-78009890	GM12873	blood:	n/a	n/a
32	CTCF	chr15:78001941-78002128	K562	blood:	n/a	n/a
33	CTCF	chr15:78001832-78002299	K562	blood:	n/a	n/a
34	CTCF	chr15:78001871-78002194	K562	blood:	n/a	n/a
35	EBF1	chr15:77999932-77999967	GM12878	blood:	n/a	chr15:77999943-77999954
36	ELK1	chr15:78000375-78000423	K562	blood:	n/a	n/a
37	JUND	chr15:78004896-78004936	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr15:78001551-78001708	NB4	blood:	n/a	n/a
39	MAZ	chr15:78001489-78001837	K562	blood:	n/a	n/a
40	MAZ	chr15:78001621-78001751	GM12878	blood:	n/a	n/a
41	MYC	chr15:78007440-78007524	MCF-7	breast:	n/a	n/a
42	MYC	chr15:78010695-78010797	MCF-7	breast:	n/a	n/a
43	MYC	chr15:78010778-78010782	GM12878	blood:	n/a	n/a
44	MYC	chr15:78004449-78004596	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr15:78007448-78007521	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFATC1	chr15:78008789-78009107	GM12878	blood:	n/a	n/a
47	POLR2A	chr15:78001958-78002158	K562	blood:	n/a	n/a
48	POLR2A	chr15:78003353-78003565	K562	blood:	n/a	n/a
49	POLR2A	chr15:78007051-78007145	MCF-7	breast:	n/a	n/a
50	POLR2A	chr15:78004845-78004931	H1-hESC	embryonic stem cell:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:78004680-78004730	HRPEpiC	eye:	n/a
2	chr15:78004680-78004730	HRPEpiC	eye:	n/a
3	chr15:78004680-78004730	H1-hESC	embryonic stem cell:	embryo
4	chr15:78004680-78004730	BJ	skin:	n/a
5	chr15:78004680-78004730	HCM	heart:	n/a
6	chr15:78004680-78004730	Jurkat	blood:	n/a
7	chr15:78004680-78004730	HCPEpiC	choroid plexus:	n/a
8	chr15:78004680-78004730	HNPCEpiC	eye:	n/a
9	chr15:78004680-78004730	BE2_C	brain:	n/a
10	chr15:78004680-78004730	MCF10A-Er-Src	breast:	n/a
11	chr15:78004680-78004730	AG09309	skin:	n/a
12	chr15:78004680-78004730	AG04449	skin:	fetal
13	chr15:78004680-78004730	PFSK-1	brain:	n/a
14	chr15:78004680-78004730	NH-A	brain:	n/a
15	chr15:78004680-78004730	T-47D	breast:	n/a
16	chr15:78004680-78004730	HCF	heart:	n/a
17	chr15:78004680-78004730	HPAEpiC	pulmonary alveolar:	n/a
18	chr15:78004680-78004730	NHDF-neo	bronchial:	n/a
19	chr15:78004680-78004730	GM19239	blood:	n/a
20	chr15:78004680-78004730	HMEC	breast:	n/a
21	chr15:78004680-78004730	SAEC	small airway:	n/a
22	chr15:78004680-78004730	HAEpiC	amniotic membrane:	n/a
23	chr15:78004680-78004730	HRCEpiC	kidney:	n/a
24	chr15:78004680-78004730	HEK293	kidney:	embryo
25	chr15:78004680-78004730	HRE	kidney:	n/a
26	chr15:78004680-78004730	HCT-116	colon:	n/a
27	chr15:78004680-78004730	ECC-1	luminal epithelium:	n/a
28	chr15:78004680-78004730	A549	lung:	n/a
29	chr15:78004680-78004730	LNCaP	prostate:	n/a
30	chr15:78004680-78004730	PrEC	prostate:	n/a
31	chr15:78004680-78004730	ProgFib	skin:	n/a
32	chr15:78004680-78004730	PANC-1	pancreas:	n/a
33	chr15:78004680-78004730	NHBE	bronchial:	n/a
34	chr15:78004680-78004730	GM12878	blood:	n/a
35	chr15:78004680-78004730	AG09319	gingival:	n/a
36	chr15:78004680-78004730	U87	brain:	n/a
37	chr15:78004680-78004730	Caco-2	colon:	n/a
38	chr15:78004680-78004730	AG10803	skin:	n/a
39	chr15:78004680-78004730	Hepatocyte	liver:	n/a
40	chr15:78004680-78004730	HL-60	blood:	n/a
41	chr15:78004680-78004730	Hela-S3	cervix:	n/a
42	chr15:78004680-78004730	NB4	blood:	n/a
43	chr15:78004680-78004730	SKMC	muscle:	n/a
44	chr15:78004680-78004730	GM12891	blood:	n/a
45	chr15:78004680-78004730	NT2-D1	testis:	n/a
46	chr15:78004680-78004730	HepG2	liver:	n/a
47	chr15:78004680-78004730	RPTEC	kidney:	n/a
48	chr15:78004680-78004730	HIPEpiC	eye:	n/a
49	chr15:78004680-78004730	MCF-7	breast:	n/a
50	chr15:78004680-78004730	HUVEC	blood vessel:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:77996121..77999450-chr15:78013163..78015366,3	K562	blood:
2	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:
3	chr15:78009070..78011036-chr15:78012914..78014777,2	K562	blood:
4	chr15:78004582..78006437-chr15:78057929..78059969,2	MCF-7	breast:
5	chr15:77925750..77926474-chr15:78007678..78008229,2	MCF-7	breast:
6	chr15:78008270..78009842-chr15:78011273..78013230,2	MCF-7	breast:
7	chr15:78008224..78009963-chr15:78011351..78014041,3	MCF-7	breast:
8	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:
9	chr15:78006143..78008281-chr15:78009901..78012087,2	K562	blood:
10	chr15:78006781..78008736-chr15:78010587..78012816,2	K562	blood:
11	chr15:73923669..73926089-chr15:78010481..78013463,2	K562	blood:

No data

Variant related genes	Relation type
LINGO1	TF binding region
LINGO1	CpG island
ENSG00000156642	chromatin interactions
ENSG00000169783	chromatin interactions

Extended variants
information (count: 540 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11072662	chr15:77999436-77999437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12442877	chr15:77999497-77999498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs563832612	chr15:77999541-77999542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11072663	chr15:77999542-77999543	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552952526	chr15:77999562-77999563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571117364	chr15:77999588-77999589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528513311	chr15:77999616-77999617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79172361	chr15:77999619-77999620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141570160	chr15:77999637-77999638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs189952576	chr15:77999727-77999728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559994479	chr15:77999737-77999738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145377987	chr15:77999856-77999857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs11072664	chr15:77999859-77999860	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs528857510	chr15:77999902-77999903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568661415	chr15:77999921-77999922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539244751	chr15:77999933-77999934	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs147663527	chr15:77999937-77999938	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141012608	chr15:77999941-77999942	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548688998	chr15:77999960-77999961	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555314089	chr15:77999992-77999993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11853997	chr15:77999997-77999998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374237201	chr15:77999998-77999999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs114375651	chr15:78000018-78000019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78280987	chr15:78000028-78000029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544278326	chr15:78000035-78000036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182440897	chr15:78000069-78000070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs28675308	chr15:78000113-78000114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs4886897	chr15:78000117-78000118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs564657396	chr15:78000157-78000158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189150870	chr15:78000176-78000177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546695988	chr15:78000217-78000218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562070940	chr15:78000277-78000278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78830831	chr15:78000284-78000285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368397219	chr15:78000304-78000305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs4886521	chr15:78000321-78000322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs148970237	chr15:78000361-78000362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539283032	chr15:78000424-78000425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191810806	chr15:78000429-78000430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373994128	chr15:78000469-78000470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566675523	chr15:78000541-78000542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534060634	chr15:78000571-78000572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs367875505	chr15:78000583-78000584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183723173	chr15:78000646-78000647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537829226	chr15:78000668-78000669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556326735	chr15:78000705-78000706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371804264	chr15:78000745-78000746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577788358	chr15:78000776-78000777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143826741	chr15:78000794-78000795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533664298	chr15:78000815-78000816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372581062	chr15:78000821-78000822	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77969200-78007600	Weak transcription	Right Atrium	heart
2	chr15:77992200-78002200	Weak transcription	Fetal Brain Male	brain
3	chr15:77994800-78002000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:77995400-78004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:77998800-77999800	Enhancers	Brain Angular Gyrus	brain
6	chr15:77999200-78000200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:77999400-78003600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:77999800-78003600	Weak transcription	Brain Angular Gyrus	brain
9	chr15:78000200-78002200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:78002000-78002800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:78002000-78003600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr15:78002200-78002400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr15:78002200-78003400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:78002200-78003800	Enhancers	Fetal Brain Male	brain
15	chr15:78002400-78003400	Enhancers	Brain Germinal Matrix	brain
16	chr15:78002600-78003200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr15:78002600-78003400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr15:78002600-78005200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:78002800-78004000	Enhancers	Brain Substantia Nigra	brain
20	chr15:78002800-78004200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:78003200-78003400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr15:78003200-78004000	Enhancers	Fetal Brain Female	brain
23	chr15:78003200-78004600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr15:78003400-78003800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr15:78003400-78005600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:78003400-78009600	Weak transcription	Brain Germinal Matrix	brain
27	chr15:78003600-78003800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:78003600-78004200	Enhancers	Brain Angular Gyrus	brain
29	chr15:78003600-78005400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:78003800-78004000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
31	chr15:78003800-78004600	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr15:78003800-78005400	Weak transcription	Fetal Brain Male	brain
33	chr15:78004000-78004600	Active TSS	Spleen	Spleen
34	chr15:78004000-78009800	Weak transcription	Fetal Brain Female	brain
35	chr15:78004200-78004600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:78004200-78004600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:78004200-78005400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:78004200-78006200	Weak transcription	Brain Angular Gyrus	brain
39	chr15:78004400-78005200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr15:78004600-78005400	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr15:78004600-78007000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:78004600-78012000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr15:78004800-78005000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr15:78004800-78005000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:78004800-78005000	Enhancers	Brain Cingulate Gyrus	brain
46	chr15:78005000-78005400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr15:78005200-78008800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:78005400-78006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr15:78005400-78007800	Enhancers	Fetal Brain Male	brain
50	chr15:78005400-78008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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