Variant report

Variant	nsv570148
Chromosome Location	chr15:78004743-78012504
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

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	chr15:78008726-78009098	GM12878	blood:	n/a	n/a
3	BCL3	chr15:78011949-78012314	GM12878	blood:	n/a	n/a
4	BCL3	chr15:78008746-78009107	GM12878	blood:	n/a	n/a
5	CTCF	chr15:78004864-78005014	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr15:78009413-78009483	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr15:78011840-78011904	K562	blood:	n/a	n/a
8	CTCF	chr15:78009740-78009890	GM12873	blood:	n/a	n/a
9	CTCF	chr15:78009420-78009570	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr15:78011914-78011934	Lung_OC	lung:	n/a	n/a
11	CTCF	chr15:78005381-78005462	Lung_OC	lung:	n/a	n/a
12	JUND	chr15:78004896-78004936	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr15:78007440-78007524	MCF-7	breast:	n/a	n/a
14	MYC	chr15:78010778-78010782	GM12878	blood:	n/a	n/a
15	MYC	chr15:78007448-78007521	H1-hESC	embryonic stem cell:	n/a	n/a
16	MYC	chr15:78010695-78010797	MCF-7	breast:	n/a	n/a
17	NFATC1	chr15:78008789-78009107	GM12878	blood:	n/a	n/a
18	POLR2A	chr15:78007051-78007145	MCF-7	breast:	n/a	n/a
19	POLR2A	chr15:78004845-78004931	H1-hESC	embryonic stem cell:	n/a	n/a
20	RAD21	chr15:78009294-78009531	H1-hESC	embryonic stem cell:	n/a	n/a
21	RAD21	chr15:78004768-78005100	H1-hESC	embryonic stem cell:	n/a	n/a
22	RCOR1	chr15:78011809-78012119	K562	blood:	n/a	n/a
23	RCOR1	chr15:78007096-78007102	K562	blood:	n/a	n/a
24	RCOR1	chr15:78009011-78009344	K562	blood:	n/a	n/a
25	RCOR1	chr15:78011811-78012128	K562	blood:	n/a	n/a
26	SIN3A	chr15:78004892-78004993	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAL1	chr15:78011966-78012029	K562	blood:	n/a	n/a
28	USF1	chr15:78004753-78005204	H1-hESC	embryonic stem cell:	n/a	n/a
29	USF1	chr15:78004861-78005101	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF2	chr15:78009062-78009070	HepG2	liver:	n/a	n/a
31	USF2	chr15:78004874-78005107	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZNF143	chr15:78009069-78009272	K562	blood:	n/a	n/a
33	ZNF143	chr15:78009006-78009324	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF263	chr15:78006585-78007119	K562	blood:	n/a	chr15:78006923-78006944 chr15:78006849-78006870
35	ZNF263	chr15:78006516-78007312	HEK293-T-REx	kidney:	n/a	chr15:78006923-78006944 chr15:78006849-78006870

No data

(count:10 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 351 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:351 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4886898	chr15:78004743-78004744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs186175141	chr15:78004758-78004759	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs190638612	chr15:78004805-78004806	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs78573423	chr15:78004806-78004807	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575127289	chr15:78004807-78004808	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs542427836	chr15:78004810-78004811	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs563993293	chr15:78004858-78004859	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs539437329	chr15:78004859-78004860	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs557738580	chr15:78004879-78004880	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs531200528	chr15:78004918-78004919	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs552297798	chr15:78004940-78004941	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs62009156	chr15:78004958-78004959	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs371529546	chr15:78004971-78004972	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs564456931	chr15:78004984-78004985	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs528471475	chr15:78005026-78005027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78591985	chr15:78005042-78005043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568197283	chr15:78005080-78005081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368153433	chr15:78005094-78005095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535291594	chr15:78005107-78005108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375868085	chr15:78005128-78005129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370276722	chr15:78005129-78005130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200811385	chr15:78005134-78005135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373742311	chr15:78005193-78005194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569074942	chr15:78005199-78005200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs539680543	chr15:78005211-78005212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112376653	chr15:78005252-78005253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182759422	chr15:78005267-78005268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533545614	chr15:78005275-78005276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372774946	chr15:78005280-78005281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28373096	chr15:78005313-78005314	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs4886899	chr15:78005411-78005412	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs4886900	chr15:78005430-78005431	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142896810	chr15:78005478-78005479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112290186	chr15:78005522-78005523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144386161	chr15:78005553-78005554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs376067193	chr15:78005554-78005555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs34453939	chr15:78005560-78005561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34997683	chr15:78005561-78005562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs36124865	chr15:78005562-78005563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs139699429	chr15:78005591-78005592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57831674	chr15:78005592-78005593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61580201	chr15:78005599-78005600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35712126	chr15:78005637-78005638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546520568	chr15:78005651-78005652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564613190	chr15:78005672-78005673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs187087290	chr15:78005693-78005694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112555465	chr15:78005743-78005744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563813481	chr15:78005780-78005781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540209250	chr15:78005835-78005836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561871074	chr15:78005841-78005842	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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77969200-78007600	Weak transcription	Right Atrium	heart
2	chr15:78002600-78005200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:78003400-78005600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:78003400-78009600	Weak transcription	Brain Germinal Matrix	brain
5	chr15:78003600-78005400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:78003800-78005400	Weak transcription	Fetal Brain Male	brain
7	chr15:78004000-78009800	Weak transcription	Fetal Brain Female	brain
8	chr15:78004200-78005400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr15:78004200-78006200	Weak transcription	Brain Angular Gyrus	brain
10	chr15:78004400-78005200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr15:78004600-78005400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr15:78004600-78007000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:78004600-78012000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:78004800-78005000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr15:78004800-78005000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:78004800-78005000	Enhancers	Brain Cingulate Gyrus	brain
17	chr15:78005000-78005400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr15:78005200-78008800	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:78005400-78006200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:78005400-78007800	Enhancers	Fetal Brain Male	brain
21	chr15:78005400-78008800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:78006200-78006400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:78006200-78006400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:78006200-78007000	Enhancers	Brain Angular Gyrus	brain
25	chr15:78006400-78013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:78006800-78007000	Enhancers	Brain Anterior Caudate	brain
27	chr15:78006800-78007400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr15:78007000-78007200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:78007000-78016600	Weak transcription	Brain Angular Gyrus	brain
30	chr15:78007400-78007600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr15:78007400-78007800	Enhancers	HSMMtube	muscle
32	chr15:78007600-78007800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr15:78007800-78008000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr15:78008800-78009400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr15:78008800-78010000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:78009200-78010000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:78009200-78010000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr15:78009200-78012000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr15:78009400-78010000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr15:78009400-78010000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:78009400-78010000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
42	chr15:78009400-78010200	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr15:78009400-78011800	Enhancers	Fetal Brain Male	brain
44	chr15:78009400-78015200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr15:78009600-78009800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:78009600-78009800	Enhancers	Brain Germinal Matrix	brain
47	chr15:78009800-78010000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
48	chr15:78009800-78010200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr15:78009800-78010200	Enhancers	Fetal Brain Female	brain
50	chr15:78009800-78012200	Weak transcription	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links