Variant report

Variant	nsv1038598
Chromosome Location	chr15:45203386-45266683
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	chr15:45205265-45205621	HepG2	liver:	n/a	n/a
2	ATF2	chr15:45203385-45203780	GM12878	blood:	n/a	n/a
3	ATF2	chr15:45203414-45203775	GM12878	blood:	n/a	n/a
4	BATF	chr15:45260122-45260297	GM12878	blood:	n/a	n/a
5	BATF	chr15:45214951-45215126	GM12878	blood:	n/a	n/a
6	BATF	chr15:45203408-45203799	GM12878	blood:	n/a	chr15:45203595-45203606 chr15:45203708-45203717
7	BATF	chr15:45204924-45205158	GM12878	blood:	n/a	chr15:45204943-45204952
8	BATF	chr15:45203489-45203757	GM12878	blood:	n/a	chr15:45203595-45203606 chr15:45203708-45203717
9	BCL11A	chr15:45203459-45203776	GM12878	blood:	n/a	chr15:45203595-45203604 chr15:45203594-45203603
10	BHLHE40	chr15:45205254-45205588	HepG2	liver:	n/a	n/a
11	CBX3	chr15:45248617-45248975	K562	blood:	n/a	n/a
12	CEBPB	chr15:45230774-45230945	K562	blood:	n/a	n/a
13	CEBPB	chr15:45205176-45205593	HepG2	liver:	n/a	n/a
14	CEBPB	chr15:45205208-45205573	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:45208995-45209180	HepG2	liver:	n/a	chr15:45209032-45209043
16	CEBPB	chr15:45205205-45205543	HepG2	liver:	n/a	n/a
17	CEBPB	chr15:45208898-45209112	K562	blood:	n/a	chr15:45209032-45209043
18	CEBPB	chr15:45231991-45232144	K562	blood:	n/a	chr15:45232041-45232054
19	CEBPB	chr15:45205257-45205548	HepG2	liver:	n/a	n/a
20	CHD2	chr15:45243973-45244102	K562	blood:	n/a	n/a
21	CTCF	chr15:45260097-45260349	MCF-7	breast:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
22	CTCF	chr15:45240948-45240984	ProgFib	skin:	n/a	n/a
23	CTCF	chr15:45260080-45260338	Hela-S3	cervix:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
24	CTCF	chr15:45260031-45260369	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
25	CTCF	chr15:45214976-45215130	ProgFib	skin:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
26	CTCF	chr15:45221534-45221657	GM20000	blood:	n/a	n/a
27	CTCF	chr15:45214897-45215159	Hela-S3	cervix:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
28	CTCF	chr15:45215000-45215065	A549	lung:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
29	CTCF	chr15:45215350-45215417	Gliobla	brain:	n/a	n/a
30	CTCF	chr15:45260116-45260358	Lung_OC	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
31	CTCF	chr15:45214895-45215208	Spleen_OC	spleen:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
32	CTCF	chr15:45259851-45259951	GM19238	blood:	n/a	n/a
33	CTCF	chr15:45214895-45215182	HUVEC	blood vessel:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
34	CTCF	chr15:45215329-45215405	GM19238	blood:	n/a	n/a
35	CTCF	chr15:45215348-45215362	NHEK	skin:	n/a	n/a
36	CTCF	chr15:45214913-45215161	HepG2	liver:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
37	CTCF	chr15:45259856-45259973	GM12892	blood:	n/a	n/a
38	CTCF	chr15:45259827-45259964	GM19240	blood:	n/a	n/a
39	CTCF	chr15:45214918-45215206	Medullo	brain:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
40	CTCF	chr15:45214879-45215184	Lung_OC	lung:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
41	CTCF	chr15:45260080-45260354	K562	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
42	CTCF	chr15:45260060-45260383	Medullo	brain:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
43	CTCF	chr15:45260058-45260344	A549	lung:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
44	CTCF	chr15:45214922-45215159	Gliobla	brain:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
45	CTCF	chr15:45215338-45215408	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr15:45260099-45260353	GM10266	blood:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
47	CTCF	chr15:45215303-45215422	GM10266	blood:	n/a	n/a
48	CTCF	chr15:45214949-45215163	GM10266	blood:	n/a	chr15:45215037-45215058 chr15:45215043-45215059
49	CTCF	chr15:45260116-45260313	MCF-7	breast:	n/a	chr15:45260225-45260246 chr15:45260224-45260240
50	CTCF	chr15:45214943-45215172	LNCaP	prostate:	n/a	chr15:45215037-45215058 chr15:45215043-45215059

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45248744-45248794	Hepatocyte	liver:	n/a
2	chr15:45248878-45248928	ovcar-3	ovarian:	n/a
3	chr15:45247870-45247920	ovcar-3	ovarian:	n/a
4	chr15:45248806-45248856	AG04450	lung:	fetal
5	chr15:45248878-45248928	SK-N-SH	brain:	n/a
6	chr15:45248744-45248794	ovcar-3	ovarian:	n/a
7	chr15:45248806-45248856	SK-N-MC	brain:	n/a
8	chr15:45248932-45248982	HIPEpiC	eye:	n/a
9	chr15:45248744-45248794	U87	brain:	n/a
10	chr15:45248932-45248982	NB4	blood:	n/a
11	chr15:45248932-45248982	HCT-116	colon:	n/a
12	chr15:45248744-45248794	Hela-S3	cervix:	n/a
13	chr15:45247870-45247920	AG09319	gingival:	n/a
14	chr15:45248806-45248856	HRE	kidney:	n/a
15	chr15:45248878-45248928	PFSK-1	brain:	n/a
16	chr15:45248878-45248928	PrEC	prostate:	n/a
17	chr15:45248463-45248513	HRPEpiC	eye:	n/a
18	chr15:45248463-45248513	HEK293	kidney:	embryo
19	chr15:45248463-45248513	U87	brain:	n/a
20	chr15:45248932-45248982	HNPCEpiC	eye:	n/a
21	chr15:45247870-45247920	BE2_C	brain:	n/a
22	chr15:45248932-45248982	T-47D	breast:	n/a
23	chr15:45248744-45248794	HAEpiC	amniotic membrane:	n/a
24	chr15:45248463-45248513	HPAEpiC	pulmonary alveolar:	n/a
25	chr15:45248932-45248982	IMR90	lung:	fetal
26	chr15:45248806-45248856	HRPEpiC	eye:	n/a
27	chr15:45248744-45248794	Caco-2	colon:	n/a
28	chr15:45248744-45248794	SK-N-MC	brain:	n/a
29	chr15:45248744-45248794	HCM	heart:	n/a
30	chr15:45248463-45248513	NHDF-neo	bronchial:	n/a
31	chr15:45248744-45248794	BE2_C	brain:	n/a
32	chr15:45248744-45248794	HCT-116	colon:	n/a
33	chr15:45248932-45248982	NHDF-neo	bronchial:	n/a
34	chr15:45248932-45248982	NH-A	brain:	n/a
35	chr15:45247870-45247920	H1-hESC	embryonic stem cell:	embryo
36	chr15:45248744-45248794	BJ	skin:	n/a
37	chr15:45248932-45248982	HCPEpiC	choroid plexus:	n/a
38	chr15:45248932-45248982	HMEC	breast:	n/a
39	chr15:45248806-45248856	HUVEC	blood vessel:	n/a
40	chr15:45248878-45248928	HepG2	liver:	n/a
41	chr15:45248878-45248928	H1-hESC	embryonic stem cell:	embryo
42	chr15:45248463-45248513	T-47D	breast:	n/a
43	chr15:45248878-45248928	MCF10A-Er-Src	breast:	n/a
44	chr15:45248878-45248928	AoSMC	blood vessel:	n/a
45	chr15:45248878-45248928	SAEC	small airway:	n/a
46	chr15:45248463-45248513	BE2_C	brain:	n/a
47	chr15:45248806-45248856	HMEC	breast:	n/a
48	chr15:45248932-45248982	GM19239	blood:	n/a
49	chr15:45248878-45248928	HNPCEpiC	eye:	n/a
50	chr15:45248932-45248982	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45003163..45005190-chr15:45225441..45227864,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C15orf43-1	chr15:45211574-45211851	NONHSAT042202
2	lnc-DUOX2-4	chr15:45262233-45263376	NONHSAT042205
3	lnc-C15orf43-1	chr15:45212156-45213018	NONHSAT042202

Variant related genes	Relation type
ENSG00000259304	TF binding region
RNU6-1108P	TF binding region
RNU6-966P	TF binding region
C15orf43	TF binding region
RNU6-1332P	TF binding region
ENSG00000259231	TF binding region
ENSG00000259742	TF binding region
ENSG00000259304	CpG island
RNU6-1108P	CpG island
RNU6-966P	CpG island
C15orf43	CpG island
RNU6-1332P	CpG island
ENSG00000259231	CpG island
ENSG00000259742	CpG island
ENSG00000166710	chromatin interactions
ENSG00000229474	chromatin interactions

Extended variants
information (count: 608 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:608 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541561242	chr15:45204636-45204637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368164849	chr15:45204646-45204647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561763005	chr15:45204656-45204657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35803734	chr15:45204663-45204664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144680619	chr15:45204666-45204667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs578133631	chr15:45204683-45204684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs543630344	chr15:45204701-45204702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371253790	chr15:45204704-45204705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185968708	chr15:45204831-45204832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs369711897	chr15:45204839-45204840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529226327	chr15:45204855-45204856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189904056	chr15:45204876-45204877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558924143	chr15:45204883-45204884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs4082812	chr15:45204954-45204955	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs16976480	chr15:45204971-45204972	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs74009484	chr15:45205017-45205018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373262012	chr15:45205037-45205038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550392484	chr15:45205039-45205040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570111119	chr15:45205052-45205053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532971948	chr15:45205087-45205088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556069466	chr15:45205089-45205090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372165383	chr15:45205119-45205120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs375527361	chr15:45205136-45205137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140330022	chr15:45205173-45205174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535053595	chr15:45205207-45205208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183317337	chr15:45205226-45205227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188002683	chr15:45205243-45205244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3858897	chr15:45205249-45205250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs373769822	chr15:45205264-45205265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573705893	chr15:45205277-45205278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566534036	chr15:45205296-45205297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs140573311	chr15:45205303-45205304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1877029	chr15:45205405-45205406	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs567519108	chr15:45205432-45205433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs60867642	chr15:45205443-45205444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs549219685	chr15:45205470-45205471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564532738	chr15:45205508-45205509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs192135082	chr15:45205519-45205520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs183813412	chr15:45205536-45205537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs563930740	chr15:45205553-45205554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs7183695	chr15:45205568-45205569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs549584393	chr15:45205594-45205595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566405391	chr15:45205605-45205606	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs150404251	chr15:45205655-45205656	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs7162016	chr15:45205687-45205688	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs7163243	chr15:45205712-45205713	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537553654	chr15:45205720-45205721	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557145271	chr15:45205721-45205722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs573792714	chr15:45205741-45205742	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs536073246	chr15:45205751-45205752	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Colorectal cancer	16774939	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
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45204600-45205600	Enhancers	HepG2	liver
2	chr15:45205400-45205800	Enhancers	Pancreas	Pancrea
3	chr15:45205600-45206000	Flanking Active TSS	HepG2	liver
4	chr15:45206000-45206800	Enhancers	HepG2	liver
5	chr15:45206600-45208200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr15:45209400-45210600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr15:45209800-45211000	Enhancers	Primary hematopoietic stem cells	blood
8	chr15:45209800-45211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:45214400-45214800	Enhancers	Liver	Liver
10	chr15:45222800-45223000	Enhancers	Liver	Liver
11	chr15:45223000-45223400	Bivalent Enhancer	K562	blood
12	chr15:45242400-45242600	Active TSS	K562	blood
13	chr15:45242600-45242800	Flanking Active TSS	K562	blood
14	chr15:45248800-45249200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr15:45248800-45249200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:45250000-45250400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr15:45250200-45250600	Enhancers	Liver	Liver

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