Variant report

Variant	nsv1015021
Chromosome Location	chr2:31972738-32030696
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	BCL3	chr2:32030694-32031197	GM12878	blood:	n/a	n/a
2	BCL3	chr2:32030679-32031268	GM12878	blood:	n/a	n/a
3	CBX3	chr2:31973712-31974112	K562	blood:	n/a	n/a
4	CBX3	chr2:31973810-31974026	K562	blood:	n/a	n/a
5	CEBPB	chr2:32017427-32017645	HepG2	liver:	n/a	chr2:32017495-32017506
6	CEBPB	chr2:32018148-32018347	A549	lung:	n/a	n/a
7	CEBPB	chr2:31990215-31990444	A549	lung:	n/a	n/a
8	CEBPB	chr2:31973211-31973522	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr2:31990112-31990434	HepG2	liver:	n/a	n/a
10	CEBPB	chr2:32017420-32017565	A549	lung:	n/a	chr2:32017495-32017506
11	CEBPB	chr2:32018092-32018351	HepG2	liver:	n/a	n/a
12	CTCF	chr2:31987260-31987410	HPAF	blood vessel:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
13	CTCF	chr2:31987250-31987447	MCF-7	breast:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
14	CTCF	chr2:31987240-31987390	WERI-Rb-1	eye:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
15	CTCF	chr2:31987340-31987490	HVMF	connective:	n/a	chr2:31987340-31987361
16	CTCF	chr2:31987277-31987432	GM12878	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
17	CTCF	chr2:31987220-31987370	SK-N-SH_RA	brain:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
18	CTCF	chr2:31987360-31987510	HEEpiC	esophagus:	n/a	n/a
19	CTCF	chr2:31987200-31987350	A549	lung:	n/a	n/a
20	CTCF	chr2:31987280-31987435	NHEK	skin:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
21	CTCF	chr2:31987266-31987422	K562	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
22	CTCF	chr2:31987320-31987470	HCM	heart:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
23	CTCF	chr2:31987280-31987430	AG04450	lung:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
24	CTCF	chr2:31987200-31987350	HMEC	breast:	n/a	n/a
25	CTCF	chr2:31987320-31987470	BJ	skin:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
26	CTCF	chr2:32029003-32029126	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:31987260-31987410	GM12873	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
28	CTCF	chr2:32011160-32011310	HBMEC	blood vessel:	n/a	n/a
29	CTCF	chr2:31987209-31987464	GM12878	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
30	CTCF	chr2:31987240-31987390	SK-N-SH_RA	brain:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
31	CTCF	chr2:31987291-31987418	HUVEC	blood vessel:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
32	CTCF	chr2:31987200-31987350	AG04450	lung:	n/a	n/a
33	CTCF	chr2:31987240-31987390	BE2_C	brain:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
34	CTCF	chr2:31987180-31987330	RPTEC	kidney:	n/a	n/a
35	CTCF	chr2:31987220-31987370	HVMF	connective:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
36	CTCF	chr2:31987280-31987430	AG09319	gingival:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
37	CTCF	chr2:31987272-31987429	HepG2	liver:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
38	CTCF	chr2:31987220-31987370	Hela-S3	cervix:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
39	CTCF	chr2:31987280-31987430	BJ	skin:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
40	CTCF	chr2:31987220-31987370	HepG2	liver:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
41	CTCF	chr2:31987280-31987430	MCF-7	breast:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
42	CTCF	chr2:31987298-31987324	LNCaP	prostate:	n/a	n/a
43	CTCF	chr2:31987300-31987450	GM12872	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
44	CTCF	chr2:31987280-31987430	HEK293	kidney:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
45	CTCF	chr2:31987280-31987430	GM12865	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
46	CTCF	chr2:31987285-31987448	Medullo	brain:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
47	CTCF	chr2:31987240-31987390	SAEC	small airway:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
48	CTCF	chr2:31987326-31987383	Fibrobl	skin:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
49	CTCF	chr2:31987260-31987410	HMEC	breast:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356
50	CTCF	chr2:31987280-31987430	NB4	blood:	n/a	chr2:31987339-31987355 chr2:31987340-31987361 chr2:31987338-31987356

No.	Distal block	Cell Line	Cell type
1	chr2:31989970..31992552-chr2:31995524..31998361,2	K562	blood:
2	chr2:31997008..31999119-chr2:32002900..32004751,2	K562	blood:
3	chr2:32001763..32003551-chr2:32004444..32006293,2	K562	blood:
4	chr2:32017633..32020047-chr2:32030093..32031981,2	MCF-7	breast:
5	chr2:32001763..32003551-chr2:32004444..32006293,2	K562	blood:
6	chr2:32017553..32019913-chr2:32027269..32030154,2	K562	blood:
7	chr2:31989970..31994045-chr2:31995524..31998361,3	K562	blood:
8	chr2:31989970..31992552-chr2:31995524..31998361,2	K562	blood:
9	chr2:32017633..32020047-chr2:32030093..32031981,2	MCF-7	breast:
10	chr2:31989970..31994045-chr2:31995524..31998361,3	K562	blood:
11	chr2:31997008..31999119-chr2:32002900..32004751,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DPY30-2	chr2:31997832-31997991	XLOC_002043
2	lnc-DPY30-2	chr2:31990952-31991045	XLOC_002043
3	lnc-DPY30-2	chr2:31997831-31997991	NONHSAT069953
4	lnc-DPY30-2	chr2:31991639-31991799	FPKM1_group_15695_transcript_1
5	lnc-DPY30-3	chr2:31990312-31990384	XLOC_002042
6	lnc-DPY30-3	chr2:31990118-31990198	NONHSAT069950
7	lnc-DPY30-2	chr2:31990951-31991045	FPKM1_group_15695_transcript_1
8	lnc-DPY30-1	chr2:32019167-32019174	XLOC_002044
9	lnc-DPY30-3	chr2:31990118-31990220	XLOC_002042
10	lnc-DPY30-1	chr2:32018892-32018984	XLOC_002044
11	lnc-DPY30-1	chr2:32019288-32019412	XLOC_002044
12	lnc-DPY30-1	chr2:32029027-32029049	XLOC_002044
13	lnc-DPY30-2	chr2:31990951-31991045	NONHSAT069953
14	lnc-DPY30-1	chr2:32028016-32028184	XLOC_002044

Variant related genes	Relation type
ENSG00000223647	TF binding region
ENSG00000223647	chromatin interactions
HBP1	miRNA target sites
CDKN1A	miRNA target sites

Extended variants
information (count: 606 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:606 , 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	rs370782101	chr2:31980050-31980051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs180979723	chr2:31980055-31980056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112659894	chr2:31980068-31980069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186056349	chr2:31980122-31980123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552324376	chr2:31980142-31980143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566056260	chr2:31980148-31980149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534853146	chr2:31980185-31980186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191358910	chr2:31980195-31980196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567477985	chr2:31980220-31980221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536416573	chr2:31980251-31980252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144800669	chr2:31980278-31980279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183172751	chr2:31980290-31980291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528186080	chr2:31980309-31980310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546162631	chr2:31980345-31980346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs558306477	chr2:31980377-31980378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148162135	chr2:31980396-31980397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540770389	chr2:31980398-31980399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192900351	chr2:31982065-31982066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565730504	chr2:31982076-31982077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534647035	chr2:31982112-31982113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548034370	chr2:31982124-31982125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567727334	chr2:31982147-31982148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs574121773	chr2:31982162-31982163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538535098	chr2:31982186-31982187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149111117	chr2:31982204-31982205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142194974	chr2:31982213-31982214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184968569	chr2:31982254-31982255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs188763657	chr2:31982294-31982295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555620023	chr2:31982299-31982300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs181584860	chr2:31982316-31982317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562325513	chr2:31982320-31982321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575722838	chr2:31982352-31982353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184594068	chr2:31982383-31982384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564310392	chr2:31982394-31982395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs533511574	chr2:31982463-31982464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540370748	chr2:31982477-31982478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189229613	chr2:31982514-31982515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182244375	chr2:31982516-31982517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548095606	chr2:31982568-31982569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567986908	chr2:31982577-31982578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530692344	chr2:31982585-31982586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550583014	chr2:31982618-31982619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570340766	chr2:31982621-31982622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146759152	chr2:31982629-31982630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552745767	chr2:31982631-31982632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567062468	chr2:31982633-31982634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536022915	chr2:31982667-31982668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556116492	chr2:31982689-31982690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76114318	chr2:31982698-31982699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs148855594	chr2:31982699-31982700	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31980000-31980400	Enhancers	Gastric	stomach
2	chr2:31982000-31983800	Enhancers	HepG2	liver
3	chr2:31982800-31983600	Enhancers	Fetal Intestine Large	intestine
4	chr2:31984600-31984800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:31988800-31989400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:31988800-31990400	Enhancers	Fetal Brain Male	brain
7	chr2:31989000-31989400	Enhancers	HSMMtube	muscle
8	chr2:31989000-31990000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:31989000-31990400	Enhancers	NHEK	skin
10	chr2:31989000-31990600	Enhancers	Fetal Intestine Large	intestine
11	chr2:31989200-31989400	Enhancers	Fetal Intestine Small	intestine
12	chr2:31989200-31989400	Enhancers	Fetal Kidney	kidney
13	chr2:31989200-31989600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:31989200-31990000	Enhancers	Fetal Muscle Leg	muscle
15	chr2:31989400-31990200	Weak transcription	Fetal Intestine Small	intestine
16	chr2:31989400-31990600	Weak transcription	Fetal Kidney	kidney
17	chr2:31989800-31990200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:31990200-31990400	Enhancers	Fetal Intestine Small	intestine
19	chr2:31990200-31990600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:31990400-31991200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:31990600-31991000	Weak transcription	Fetal Intestine Large	intestine
22	chr2:31990600-31991400	Enhancers	Fetal Kidney	kidney
23	chr2:31991000-31991600	Enhancers	Fetal Intestine Large	intestine
24	chr2:31991200-31991600	Enhancers	Fetal Intestine Small	intestine
25	chr2:32002200-32004600	Weak transcription	Right Atrium	heart
26	chr2:32003200-32003400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:32003200-32003400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:32003200-32004000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr2:32003400-32003600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:32008000-32008800	Enhancers	HMEC	breast
31	chr2:32010600-32011400	Enhancers	Fetal Intestine Large	intestine
32	chr2:32027600-32030800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:32028600-32028800	Enhancers	Pancreas	Pancrea
34	chr2:32028800-32030800	Weak transcription	Pancreas	Pancrea
35	chr2:32029000-32029200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:32029200-32030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:32029400-32030800	Weak transcription	Lung	lung

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