Variant report

Variant	esv1818155
Chromosome Location	chr15:78866785-78874073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr15:78867367-78867555	GM12878	blood:	n/a	n/a
2	BATF	chr15:78867304-78867575	GM12878	blood:	n/a	n/a
3	CTCF	chr15:78869015-78869133	MCF-7	breast:	n/a	n/a
4	CTCF	chr15:78869134-78869177	K562	blood:	n/a	n/a
5	CTCF	chr15:78869002-78869140	MCF-7	breast:	n/a	n/a
6	CTCF	chr15:78869006-78869137	A549	lung:	n/a	n/a
7	CTCF	chr15:78868988-78869143	MCF-7	breast:	n/a	n/a
8	CTCF	chr15:78869038-78869124	GM19238	blood:	n/a	n/a
9	CTCF	chr15:78868917-78869145	K562	blood:	n/a	n/a
10	CTCF	chr15:78869000-78869150	WERI-Rb-1	eye:	n/a	n/a
11	CTCF	chr15:78868960-78869110	HEK293	kidney:	n/a	n/a
12	CTCF	chr15:78869055-78869118	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr15:78869015-78869137	MCF-7	breast:	n/a	n/a
14	CTCF	chr15:78869078-78869124	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr15:78869017-78869148	MCF-7	breast:	n/a	n/a
16	CTCF	chr15:78867220-78867236	MCF-7	breast:	n/a	n/a
17	EP300	chr15:78867366-78867641	GM12878	blood:	n/a	n/a
18	MAFF	chr15:78871938-78871939	K562	blood:	n/a	n/a
19	NFIC	chr15:78867261-78867745	GM12878	blood:	n/a	n/a
20	PAX5	chr15:78867095-78867492	GM12878	blood:	n/a	n/a
21	PAX5	chr15:78867205-78867367	GM12878	blood:	n/a	n/a
22	PAX5	chr15:78867077-78867442	GM12878	blood:	n/a	n/a
23	PAX5	chr15:78867145-78867504	GM12891	blood:	n/a	n/a
24	PAX5	chr15:78867025-78867541	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:78872691-78872855	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr15:78867403-78867426	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr15:78869507-78869620	H1-hESC	embryonic stem cell:	n/a	n/a
28	RUNX3	chr15:78867185-78867698	GM12878	blood:	n/a	n/a
29	RUNX3	chr15:78867288-78867678	GM12878	blood:	n/a	n/a
30	SPI1	chr15:78867295-78867686	GM12891	blood:	n/a	n/a
31	SPI1	chr15:78867332-78867644	GM12878	blood:	n/a	n/a
32	SPI1	chr15:78867419-78867598	GM12878	blood:	n/a	n/a
33	SPI1	chr15:78867071-78867750	GM12878	blood:	n/a	n/a
34	YY1	chr15:78868992-78869129	K562	blood:	n/a	n/a
35	ZNF263	chr15:78868933-78869208	HEK293-T-REx	kidney:	n/a	chr15:78869031-78869052
36	ZNF384	chr15:78867335-78867618	GM12878	blood:	n/a	n/a
37	ZNF384	chr15:78868988-78869247	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:78864327..78866155-chr15:78867684..78869455,2	K562	blood:
2	chr15:78869904..78872050-chr15:79066335..79069045,2	MCF-7	breast:
3	chr15:78856758..78860631-chr15:78862609..78867440,7	MCF-7	breast:
4	chr15:78841390..78843415-chr15:78873575..78876232,2	K562	blood:
5	chr15:78831312..78834277-chr15:78872379..78875019,2	MCF-7	breast:
6	chr15:78860117..78862211-chr15:78865447..78867547,2	K562	blood:
7	chr15:78831833..78834289-chr15:78867308..78869234,2	MCF-7	breast:

No data

Variant related genes	Relation type
CHRNA5	TF binding region
ENSG00000041357	chromatin interactions
ENSG00000169684	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8030072	chr15:78866785-78866786	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562658565	chr15:78866792-78866793	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs75034808	chr15:78866793-78866794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs58651598	chr15:78866811-78866812	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571839428	chr15:78866816-78866817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538855117	chr15:78866841-78866842	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554282803	chr15:78866950-78866951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs16969949	chr15:78866964-78866965	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs536654422	chr15:78867002-78867003	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12903839	chr15:78867042-78867043	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs77258183	chr15:78867094-78867095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs543350163	chr15:78867151-78867152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs546757473	chr15:78867184-78867185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564812858	chr15:78867207-78867208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs183097048	chr15:78867244-78867245	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs150441541	chr15:78867247-78867248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73463090	chr15:78867283-78867284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375021466	chr15:78867314-78867315	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545734330	chr15:78867315-78867316	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs74248586	chr15:78867345-78867346	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs114797397	chr15:78867397-78867398	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs555629558	chr15:78867420-78867421	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563240060	chr15:78867440-78867441	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs17486278	chr15:78867482-78867483	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
25	rs187435547	chr15:78867523-78867524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571838266	chr15:78867525-78867526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs532751124	chr15:78867550-78867551	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs138207313	chr15:78867565-78867566	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566188850	chr15:78867568-78867569	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs539698387	chr15:78867611-78867612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs537801928	chr15:78867631-78867632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34279278	chr15:78867656-78867657	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191972546	chr15:78867676-78867677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1875870	chr15:78867720-78867721	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537042407	chr15:78867740-78867741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs533222542	chr15:78867758-78867759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184263644	chr15:78867815-78867816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577022047	chr15:78867821-78867822	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541222537	chr15:78867869-78867870	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371639867	chr15:78867887-78867888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs552863889	chr15:78867970-78867971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376013753	chr15:78867979-78867980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs190004177	chr15:78868048-78868049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs142388711	chr15:78868070-78868071	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs79000453	chr15:78868075-78868076	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs139210273	chr15:78868092-78868093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs12324731	chr15:78868096-78868097	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs565573923	chr15:78868106-78868107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192697531	chr15:78868116-78868117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184484190	chr15:78868117-78868118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Breast cancer	17133270	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78859000-78868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78859200-78882400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr15:78860200-78881400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:78860200-78881600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:78860200-78882200	Weak transcription	Hela-S3	cervix
6	chr15:78863600-78867200	Weak transcription	GM12878-XiMat	blood
7	chr15:78864600-78869200	Weak transcription	A549	lung
8	chr15:78865800-78873200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:78867200-78867400	Enhancers	GM12878-XiMat	blood
10	chr15:78867400-78867800	Weak transcription	GM12878-XiMat	blood
11	chr15:78867800-78868000	Enhancers	GM12878-XiMat	blood
12	chr15:78868000-78895800	Weak transcription	GM12878-XiMat	blood
13	chr15:78869200-78869800	Enhancers	A549	lung
14	chr15:78869400-78869600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:78869600-78882000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:78869800-78882200	Weak transcription	A549	lung
17	chr15:78872600-78881600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:78873200-78873400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr15:78873400-78873600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:78873600-78881200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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