Variant report

Variant	nsv570023
Chromosome Location	chr15:76884127-76978139
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:76935433-76935442	HepG2	liver:	n/a	n/a
2	BATF	chr15:76946679-76946925	GM12878	blood:	n/a	n/a
3	BATF	chr15:76946672-76946896	GM12878	blood:	n/a	n/a
4	BATF	chr15:76907151-76907359	GM12878	blood:	n/a	n/a
5	BATF	chr15:76907137-76907384	GM12878	blood:	n/a	n/a
6	BCL11A	chr15:76946684-76946864	GM12878	blood:	n/a	n/a
7	BHLHE40	chr15:76946680-76946809	GM12878	blood:	n/a	n/a
8	BRCA1	chr15:76969668-76969722	H1-hESC	embryonic stem cell:	n/a	n/a
9	CBX3	chr15:76928484-76928676	K562	blood:	n/a	n/a
10	CBX3	chr15:76928439-76928711	K562	blood:	n/a	n/a
11	CEBPB	chr15:76960844-76961108	A549	lung:	n/a	n/a
12	CEBPB	chr15:76953585-76953673	A549	lung:	n/a	n/a
13	CEBPB	chr15:76908855-76909056	HepG2	liver:	n/a	chr15:76908970-76908981
14	CEBPB	chr15:76963560-76963674	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr15:76960889-76961156	HepG2	liver:	n/a	n/a
16	CHD2	chr15:76917763-76917765	HepG2	liver:	n/a	n/a
17	CTCF	chr15:76935180-76935330	HEK293	kidney:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
18	CTCF	chr15:76935160-76935310	NB4	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
19	CTCF	chr15:76917642-76917956	GM12878	blood:	n/a	n/a
20	CTCF	chr15:76935040-76935190	HA-sp	spinal cord:	n/a	n/a
21	CTCF	chr15:76964300-76964450	Caco-2	colon:	n/a	n/a
22	CTCF	chr15:76935152-76935268	GM10248	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
23	CTCF	chr15:76935160-76935310	HMEC	breast:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
24	CTCF	chr15:76935080-76935230	HepG2	liver:	n/a	chr15:76935214-76935223 chr15:76935211-76935229
25	CTCF	chr15:76917720-76917870	HPAF	blood vessel:	n/a	n/a
26	CTCF	chr15:76935114-76935280	GM13977	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
27	CTCF	chr15:76935160-76935310	NHDF-neo	bronchial:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
28	CTCF	chr15:76935140-76935290	HMF	breast:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
29	CTCF	chr15:76935120-76935270	HFF	foreskin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
30	CTCF	chr15:76935160-76935286	GM10266	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
31	CTCF	chr15:76935120-76935270	GM12874	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
32	CTCF	chr15:76935060-76935210	HVMF	connective:	n/a	n/a
33	CTCF	chr15:76935140-76935290	GM12801	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
34	CTCF	chr15:76917712-76917873	Fibrobl	skin:	n/a	n/a
35	CTCF	chr15:76935414-76935473	GM12878	blood:	n/a	chr15:76935430-76935446
36	CTCF	chr15:76917720-76917870	HEK293	kidney:	n/a	n/a
37	CTCF	chr15:76917680-76917830	HRE	kidney:	n/a	n/a
38	CTCF	chr15:76974060-76974210	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr15:76917640-76917790	HMF	breast:	n/a	n/a
40	CTCF	chr15:76917680-76917830	HBMEC	blood vessel:	n/a	n/a
41	CTCF	chr15:76935080-76935230	HUVEC	blood vessel:	n/a	chr15:76935214-76935223 chr15:76935211-76935229
42	CTCF	chr15:76935100-76935250	AG04449	skin:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
43	CTCF	chr15:76917711-76917900	HepG2	liver:	n/a	n/a
44	CTCF	chr15:76935140-76935290	GM12869	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
45	CTCF	chr15:76935240-76935390	HBMEC	blood vessel:	n/a	n/a
46	CTCF	chr15:76935080-76935230	AG04450	lung:	n/a	chr15:76935214-76935223 chr15:76935211-76935229
47	CTCF	chr15:76917314-76917373	Fibrobl	skin:	n/a	n/a
48	CTCF	chr15:76935220-76935370	HMEC	breast:	n/a	n/a
49	CTCF	chr15:76935076-76935403	HepG2	liver:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229
50	CTCF	chr15:76935180-76935330	GM12864	blood:	n/a	chr15:76935214-76935223 chr15:76935213-76935234 chr15:76935211-76935229

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:76901065-76901115	NH-A	brain:	n/a
2	chr15:76901065-76901115	SKMC	muscle:	n/a
3	chr15:76901065-76901115	NHBE	bronchial:	n/a
4	chr15:76901065-76901115	HCF	heart:	n/a
5	chr15:76901065-76901115	SK-N-SH_RA	brain:	n/a
6	chr15:76901065-76901115	Hepatocyte	liver:	n/a
7	chr15:76901065-76901115	SK-N-SH	brain:	n/a
8	chr15:76901065-76901115	Caco-2	colon:	n/a
9	chr15:76901065-76901115	SK-N-MC	brain:	n/a
10	chr15:76901065-76901115	HepG2	liver:	n/a
11	chr15:76901065-76901115	ECC-1	luminal epithelium:	n/a
12	chr15:76901065-76901115	PFSK-1	brain:	n/a
13	chr15:76901065-76901115	GM06990	blood:	n/a
14	chr15:76901065-76901115	PANC-1	pancreas:	n/a
15	chr15:76901065-76901115	HAEpiC	amniotic membrane:	n/a
16	chr15:76901065-76901115	GM12892	blood:	n/a
17	chr15:76901065-76901115	RPTEC	kidney:	n/a
18	chr15:76901065-76901115	CMK	blood:	n/a
19	chr15:76901065-76901115	T-47D	breast:	n/a
20	chr15:76901065-76901115	BE2_C	brain:	n/a
21	chr15:76901065-76901115	AG04450	lung:	fetal
22	chr15:76901065-76901115	ProgFib	skin:	n/a
23	chr15:76901065-76901115	HCPEpiC	choroid plexus:	n/a
24	chr15:76901065-76901115	Jurkat	blood:	n/a
25	chr15:76901065-76901115	LNCaP	prostate:	n/a
26	chr15:76901065-76901115	HCT-116	colon:	n/a
27	chr15:76901065-76901115	PrEC	prostate:	n/a
28	chr15:76901065-76901115	GM12878	blood:	n/a
29	chr15:76901065-76901115	GM12891	blood:	n/a
30	chr15:76901065-76901115	HEK293	kidney:	embryo
31	chr15:76901065-76901115	HCM	heart:	n/a
32	chr15:76901065-76901115	GM19239	blood:	n/a
33	chr15:76901065-76901115	BJ	skin:	n/a
34	chr15:76901065-76901115	H1-hESC	embryonic stem cell:	embryo
35	chr15:76901065-76901115	A549	lung:	n/a
36	chr15:76901065-76901115	MCF10A-Er-Src	breast:	n/a
37	chr15:76901065-76901115	K562	blood:	n/a
38	chr15:76901065-76901115	NB4	blood:	n/a
39	chr15:76901065-76901115	AG10803	skin:	n/a
40	chr15:76901065-76901115	AG04449	skin:	fetal
41	chr15:76901065-76901115	HRE	kidney:	n/a
42	chr15:76901065-76901115	HMEC	breast:	n/a
43	chr15:76901065-76901115	Hela-S3	cervix:	n/a
44	chr15:76901065-76901115	AG09319	gingival:	n/a
45	chr15:76901065-76901115	NHDF-neo	bronchial:	n/a
46	chr15:76901065-76901115	HUVEC	blood vessel:	n/a
47	chr15:76901065-76901115	HL-60	blood:	n/a
48	chr15:76901065-76901115	HIPEpiC	eye:	n/a
49	chr15:76901065-76901115	HRPEpiC	eye:	n/a
50	chr15:76901065-76901115	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76969596..76972550-chr15:76979737..76981959,2	MCF-7	breast:
2	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
3	chr15:76934897..76935640-chr15:77158999..77159764,3	MCF-7	breast:
4	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
5	chr15:76934737..76935336-chr15:77133237..77133799,2	MCF-7	breast:
6	chr15:76967596..76970375-chr15:76976896..76979262,2	K562	blood:
7	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
8	chr15:76959064..76961382-chr15:76964223..76965946,2	MCF-7	breast:
9	chr15:76964455..76968844-chr15:76969640..76972722,4	K562	blood:
10	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:
11	chr15:76934226..76937075-chr15:76948287..76950112,2	MCF-7	breast:

Variant related genes	Relation type
SCAPER	TF binding region
SCAPER	CpG island

Extended variants
information (count: 3217 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:3217 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2469244	chr15:76884127-76884128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529619983	chr15:76884179-76884180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551014072	chr15:76884189-76884190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559088362	chr15:76884207-76884208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71405219	chr15:76884225-76884226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569399914	chr15:76884230-76884231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs565053042	chr15:76884233-76884234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114335674	chr15:76884260-76884261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566617097	chr15:76884269-76884270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376695567	chr15:76884300-76884301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73457039	chr15:76884358-76884359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192112297	chr15:76884384-76884385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527738538	chr15:76884415-76884416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184635781	chr15:76884427-76884428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370870568	chr15:76884429-76884430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200705373	chr15:76884471-76884472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10775212	chr15:76884472-76884473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202170647	chr15:76884474-76884475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577374041	chr15:76884478-76884479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148501449	chr15:76884480-76884481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557822841	chr15:76884517-76884518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188323663	chr15:76884519-76884520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62030416	chr15:76884523-76884524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs192255606	chr15:76884531-76884532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529286578	chr15:76884543-76884544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544849920	chr15:76884591-76884592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs367809165	chr15:76884597-76884598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368729540	chr15:76884598-76884599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372306744	chr15:76884599-76884600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375031213	chr15:76884600-76884601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555732889	chr15:76884653-76884654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563042738	chr15:76884831-76884832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533562470	chr15:76884848-76884849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560746867	chr15:76884913-76884914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535274657	chr15:76884921-76884922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566555056	chr15:76884951-76884952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142825935	chr15:76884961-76884962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548824677	chr15:76885001-76885002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567217000	chr15:76885050-76885051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184586703	chr15:76885065-76885066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529985098	chr15:76885090-76885091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189452185	chr15:76885191-76885192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571250844	chr15:76885195-76885196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557460343	chr15:76885219-76885220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575649428	chr15:76885305-76885306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2469245	chr15:76885321-76885322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs2469246	chr15:76885353-76885354	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113978025	chr15:76885358-76885359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555588977	chr15:76885359-76885360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368437868	chr15:76885427-76885428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76878200-76884200	Weak transcription	Right Ventricle	heart
2	chr15:76878800-76884800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:76879800-76885600	Weak transcription	Pancreas	Pancrea
4	chr15:76882000-76885200	Weak transcription	Left Ventricle	heart
5	chr15:76882000-76887800	Weak transcription	Lung	lung
6	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:76882400-76884800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:76882400-76884800	Weak transcription	Fetal Stomach	stomach
9	chr15:76882400-76885800	Weak transcription	Fetal Intestine Small	intestine
10	chr15:76882400-76887800	Weak transcription	Primary B cells from cord blood	blood
11	chr15:76882400-76887800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:76882600-76884200	Weak transcription	Thymus	Thymus
13	chr15:76882600-76884600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:76882600-76886400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:76882800-76884600	Weak transcription	Liver	Liver
16	chr15:76883000-76884600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:76884200-76884400	Enhancers	Right Ventricle	heart
18	chr15:76885800-76886000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr15:76896800-76915600	Weak transcription	Primary B cells from cord blood	blood
20	chr15:76898000-76902600	Weak transcription	Ovary	ovary
21	chr15:76898200-76909600	Weak transcription	Left Ventricle	heart
22	chr15:76898400-76981000	Weak transcription	Pancreas	Pancrea
23	chr15:76899800-76904400	Weak transcription	Lung	lung
24	chr15:76900800-76901200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:76900800-76902000	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr15:76900800-76902600	ZNF genes & repeats	Fetal Intestine Large	intestine
27	chr15:76900800-76902600	ZNF genes & repeats	Fetal Stomach	stomach
28	chr15:76901000-76901800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr15:76901000-76902400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:76901000-76902400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr15:76901000-76902600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr15:76901000-76917200	Weak transcription	Gastric	stomach
33	chr15:76901200-76902400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:76901400-76901600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:76901400-76902800	ZNF genes & repeats	Dnd41	blood
36	chr15:76901400-76902800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr15:76902000-76903400	Weak transcription	Primary T cells from cord blood	blood
38	chr15:76902200-76902800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr15:76902200-76903600	Weak transcription	Brain Anterior Caudate	brain
40	chr15:76902600-76907400	Weak transcription	Fetal Stomach	stomach
41	chr15:76902600-76992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:76902800-76915600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr15:76902800-76926400	Weak transcription	Dnd41	blood
44	chr15:76903400-76904000	ZNF genes & repeats	Primary T cells from cord blood	blood
45	chr15:76903400-76914800	Weak transcription	Small Intestine	intestine
46	chr15:76903400-76940400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr15:76903600-76914000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr15:76904000-76905000	ZNF genes & repeats	Liver	Liver
49	chr15:76904000-76908200	Weak transcription	Primary T cells from cord blood	blood
50	chr15:76904000-76927800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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