Variant report

Variant	nsv1060041
Chromosome Location	chr20:29926828-30016443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:289)
CpG islands
(count:1282)
Chromatin interactive
region (count:18)
LncRNA
region (count:16)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:30001402-30001664	HepG2	liver:	n/a	n/a
2	CEBPB	chr20:29970579-29970843	HepG2	liver:	n/a	chr20:29970692-29970701 chr20:29970692-29970703
3	CEBPB	chr20:29970567-29970830	A549	lung:	n/a	chr20:29970692-29970701 chr20:29970692-29970703
4	CEBPB	chr20:29929046-29929296	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr20:29939648-29939720	HepG2	liver:	n/a	chr20:29939667-29939678
6	CEBPB	chr20:29929475-29929483	K562	blood:	n/a	n/a
7	CEBPB	chr20:30013786-30013875	HepG2	liver:	n/a	chr20:30013846-30013859 chr20:30013846-30013857
8	CEBPB	chr20:29930995-29931186	HepG2	liver:	n/a	chr20:29931087-29931098
9	CEBPB	chr20:29926865-29926997	HepG2	liver:	n/a	n/a
10	CHD2	chr20:29952083-29952448	K562	blood:	n/a	n/a
11	CHD2	chr20:29952144-29952438	HepG2	liver:	n/a	n/a
12	CTCF	chr20:30001458-30001638	GM19238	blood:	n/a	n/a
13	CTCF	chr20:30001540-30001690	NHDF-neo	bronchial:	n/a	n/a
14	CTCF	chr20:30001460-30001610	AG09319	gingival:	n/a	n/a
15	CTCF	chr20:30001420-30001570	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr20:30001320-30001470	HFF-Myc	foreskin:	n/a	n/a
17	CTCF	chr20:30001450-30001624	MCF-7	breast:	n/a	n/a
18	CTCF	chr20:30001420-30001570	GM12873	blood:	n/a	n/a
19	CTCF	chr20:30001272-30001778	MCF-7	breast:	n/a	n/a
20	CTCF	chr20:30001440-30001590	GM12864	blood:	n/a	n/a
21	CTCF	chr20:30001460-30001610	GM12874	blood:	n/a	n/a
22	CTCF	chr20:30001413-30001695	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTCF	chr20:30001363-30001718	K562	blood:	n/a	n/a
24	CTCF	chr20:30001460-30001610	HCM	heart:	n/a	n/a
25	CTCF	chr20:30001400-30001696	A549	lung:	n/a	n/a
26	CTCF	chr20:30001355-30001640	HepG2	liver:	n/a	n/a
27	CTCF	chr20:30001479-30001574	GM12892	blood:	n/a	n/a
28	CTCF	chr20:30001500-30001650	GM12865	blood:	n/a	n/a
29	CTCF	chr20:30001384-30001698	Gliobla	brain:	n/a	n/a
30	CTCF	chr20:30001520-30001670	RPTEC	kidney:	n/a	n/a
31	CTCF	chr20:29941100-29941250	HepG2	liver:	n/a	n/a
32	CTCF	chr20:30001417-30001668	A549	lung:	n/a	n/a
33	CTCF	chr20:30001460-30001610	NHDF-neo	bronchial:	n/a	n/a
34	CTCF	chr20:30001560-30001710	AG04450	lung:	n/a	n/a
35	CTCF	chr20:30001460-30001610	AG04449	skin:	n/a	n/a
36	CTCF	chr20:30001299-30001807	MCF-7	breast:	n/a	n/a
37	CTCF	chr20:30001440-30001590	BJ	skin:	n/a	n/a
38	CTCF	chr20:30001460-30001610	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr20:30005129-30005214	Lung_OC	lung:	n/a	n/a
40	CTCF	chr20:30001440-30001590	GM12865	blood:	n/a	n/a
41	CTCF	chr20:30001500-30001650	HCFaa	heart:	n/a	n/a
42	CTCF	chr20:30001440-30001590	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr20:30001500-30001650	HA-sp	spinal cord:	n/a	n/a
44	CTCF	chr20:30001463-30001590	GM19240	blood:	n/a	n/a
45	CTCF	chr20:30001460-30001610	HL-60	blood:	n/a	n/a
46	CTCF	chr20:29929366-29929429	LNCaP	prostate:	n/a	n/a
47	CTCF	chr20:30001403-30001678	K562	blood:	n/a	n/a
48	CTCF	chr20:30001452-30001627	GM19239	blood:	n/a	n/a
49	CTCF	chr20:29984480-29984630	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr20:30001400-30001550	HUVEC	blood vessel:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:29956585-29956635	HCM	heart:	n/a
2	chr20:29956585-29956635	HCM	heart:	n/a
3	chr20:29956330-29956380	GM19239	blood:	n/a
4	chr20:30008986-30009036	Hepatocyte	liver:	n/a
5	chr20:30012193-30012243	HCPEpiC	choroid plexus:	n/a
6	chr20:29955259-29955309	AG09319	gingival:	n/a
7	chr20:29956062-29956112	HAEpiC	amniotic membrane:	n/a
8	chr20:29993663-29993713	SK-N-MC	brain:	n/a
9	chr20:29978176-29978226	MCF10A-Er-Src	breast:	n/a
10	chr20:29965177-29965227	Hepatocyte	liver:	n/a
11	chr20:29978176-29978226	HEEpiC	esophagus:	n/a
12	chr20:29994846-29994896	NH-A	brain:	n/a
13	chr20:29955259-29955309	GM12892	blood:	n/a
14	chr20:29994173-29994223	MCF10A-Er-Src	breast:	n/a
15	chr20:29994089-29994139	ECC-1	luminal epithelium:	n/a
16	chr20:30008986-30009036	NT2-D1	testis:	n/a
17	chr20:29956585-29956635	GM12878	blood:	n/a
18	chr20:29956062-29956112	HMEC	breast:	n/a
19	chr20:30012193-30012243	ovcar-3	ovarian:	n/a
20	chr20:29993663-29993713	Hepatocyte	liver:	n/a
21	chr20:29994192-29994242	PrEC	prostate:	n/a
22	chr20:29993663-29993713	AoSMC	blood vessel:	n/a
23	chr20:29978176-29978226	Jurkat	blood:	n/a
24	chr20:29994192-29994242	ProgFib	skin:	n/a
25	chr20:29978353-29978403	HRPEpiC	eye:	n/a
26	chr20:29994846-29994896	CMK	blood:	n/a
27	chr20:29994173-29994223	ECC-1	luminal epithelium:	n/a
28	chr20:29955259-29955309	HRE	kidney:	n/a
29	chr20:30008986-30009036	SKMC	muscle:	n/a
30	chr20:29994173-29994223	HRCEpiC	kidney:	n/a
31	chr20:29978353-29978403	ECC-1	luminal epithelium:	n/a
32	chr20:29994192-29994242	HRCEpiC	kidney:	n/a
33	chr20:29978114-29978164	BE2_C	brain:	n/a
34	chr20:29979846-29979896	HEEpiC	esophagus:	n/a
35	chr20:30007925-30007975	NB4	blood:	n/a
36	chr20:29978114-29978164	MCF10A-Er-Src	breast:	n/a
37	chr20:29956028-29956078	SK-N-SH_RA	brain:	n/a
38	chr20:29956585-29956635	A549	lung:	n/a
39	chr20:29994089-29994139	U87	brain:	n/a
40	chr20:29956330-29956380	HCPEpiC	choroid plexus:	n/a
41	chr20:29978114-29978164	NHDF-neo	bronchial:	n/a
42	chr20:29960982-29961032	HCM	heart:	n/a
43	chr20:29965177-29965227	HEEpiC	esophagus:	n/a
44	chr20:29978114-29978164	GM12891	blood:	n/a
45	chr20:29995343-29995393	GM12892	blood:	n/a
46	chr20:29994173-29994223	HEEpiC	esophagus:	n/a
47	chr20:29956062-29956112	PFSK-1	brain:	n/a
48	chr20:29995343-29995393	HUVEC	blood vessel:	n/a
49	chr20:29993663-29993713	BJ	skin:	n/a
50	chr20:29978176-29978226	A549	lung:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:29992014..29994023-chr20:30071484..30073415,2	K562	blood:
2	chr20:29940769..29942399-chr20:29945457..29948097,2	MCF-7	breast:
3	chr20:30006873..30009795-chr20:30012384..30014922,2	MCF-7	breast:
4	chr20:30001098..30001991-chr20:30090702..30091623,2	MCF-7	breast:
5	chr20:29962541..29965456-chr20:29970473..29972766,2	K562	blood:
6	chr20:30001111..30001772-chr20:30200396..30200937,2	MCF-7	breast:
7	chr20:29933564..29935935-chr20:29935958..29938008,2	MCF-7	breast:
8	chr20:29960399..29962900-chr20:29964371..29965877,2	MCF-7	breast:
9	chr20:29960399..29962900-chr20:29964371..29965877,2	MCF-7	breast:
10	chr20:29984307..29986959-chr20:29988552..29991737,3	K562	blood:
11	chr20:29984307..29986959-chr20:29988552..29991737,3	K562	blood:
12	chr20:30001102..30001956-chr20:30200407..30201209,2	MCF-7	breast:
13	chr20:29940769..29942399-chr20:29945457..29948097,2	MCF-7	breast:
14	chr20:29933564..29935935-chr20:29935958..29938008,2	MCF-7	breast:
15	chr20:29955069..29955719-chr20:29963915..29964847,2	MCF-7	breast:
16	chr20:29976860..29979727-chr20:29989751..29991908,2	MCF-7	breast:
17	chr20:30006873..30009795-chr20:30012384..30014922,2	MCF-7	breast:
18	chr20:30001115..30001627-chr20:30090661..30091593,2	MCF-7	breast:

(count:16 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEFB119-1	chr20:29964966-29965242	NONHSAT079289
2	lnc-DEFB119-1	chr20:29978226-29978452	NR_073153
3	lnc-DEFB121-1	chr20:30009242-30009481	NONHSAT079292
4	lnc-DEFB119-1	chr20:29976126-29976162	NONHSAT079290
5	lnc-DEFB119-1	chr20:29978226-29978452	NONHSAT079290
6	lnc-DEFB119-2	chr20:29931511-29932274	NONHSAT079285
7	lnc-DEFB119-1	chr20:29964966-29965165	NONHSAT079290
8	lnc-DEFB119-2	chr20:29929174-29929962	NONHSAT079285
9	lnc-DEFB119-1	chr20:29964966-29965242	NR_073153
10	lnc-DEFB119-1	chr20:29966155-29966194	NR_073153
11	lnc-DEFB119-1	chr20:29976126-29976162	NONHSAT079289
12	lnc-DEFB119-1	chr20:29966155-29966194	NONHSAT079289
13	lnc-DEFB121-1	chr20:30011613-30011670	NONHSAT079292
14	lnc-DEFB119-2	chr20:29930249-29931017	NONHSAT079285
15	lnc-DEFB119-1	chr20:29978226-29978452	NONHSAT079289
16	lnc-DEFB119-2	chr20:29931121-29931202	NONHSAT079285

No data

Variant related genes	Relation type
ENSG00000212134	TF binding region
DEFB118	TF binding region
RNA5SP480	TF binding region
DEFB117	TF binding region
HAUS6P2	TF binding region
DEFB119	TF binding region
DEFB122	TF binding region
DEFB121	TF binding region
ENSG00000212134	CpG island
DEFB118	CpG island
RNA5SP480	CpG island
DEFB117	CpG island
HAUS6P2	CpG island
DEFB119	CpG island
DEFB122	CpG island
DEFB121	CpG island
ENSG00000180483	chromatin interactions
ENSG00000212134	chromatin interactions

Extended variants
information (count: 879 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:879 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530739693	chr20:29929192-29929193	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs550335726	chr20:29929217-29929218	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs140428956	chr20:29929225-29929226	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs6119864	chr20:29929247-29929248	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs535977032	chr20:29929249-29929250	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs546269439	chr20:29929254-29929255	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs566509044	chr20:29929301-29929302	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs375526597	chr20:29929307-29929308	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs6119865	chr20:29929342-29929343	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs77925548	chr20:29929382-29929383	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs35532443	chr20:29929387-29929388	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs571820102	chr20:29929418-29929419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs375845172	chr20:29929441-29929442	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs184453729	chr20:29929454-29929455	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs147369491	chr20:29929460-29929461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs17326630	chr20:29929497-29929498	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537006008	chr20:29929506-29929507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs556922057	chr20:29929531-29929532	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs189276039	chr20:29929550-29929551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs565210239	chr20:29929575-29929576	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs111362232	chr20:29929583-29929584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs530685121	chr20:29929654-29929655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs148404577	chr20:29929677-29929678	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs142484288	chr20:29929692-29929693	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs151021834	chr20:29929751-29929752	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs116247164	chr20:29929787-29929788	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs566396900	chr20:29929837-29929838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs73242248	chr20:29929895-29929896	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577037484	chr20:29929896-29929897	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs536891332	chr20:29929920-29929921	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs568817850	chr20:29929950-29929951	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs537766587	chr20:29929962-29929963	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs140324652	chr20:29930327-29930328	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
34	rs189317668	chr20:29930332-29930333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs369245349	chr20:29930376-29930377	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs182235856	chr20:29930414-29930415	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs535141078	chr20:29930428-29930429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs546847240	chr20:29930439-29930440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs186026902	chr20:29930458-29930459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs538786415	chr20:29930473-29930474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs190844252	chr20:29930500-29930501	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
42	rs73242255	chr20:29930522-29930523	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs145705104	chr20:29930568-29930569	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs554463960	chr20:29930583-29930584	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs574355784	chr20:29930600-29930601	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs572696835	chr20:29930649-29930650	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs560114719	chr20:29930658-29930659	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs145223089	chr20:29930661-29930662	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557734664	chr20:29930679-29930680	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs576001722	chr20:29930712-29930713	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Melanoma	20877625	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29935800-29937200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:29956200-29956800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr20:29976800-29978400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr20:29982200-29983400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr20:29983200-29983400	Enhancers	Spleen	Spleen
6	chr20:29987000-29987600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr20:30001400-30001600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr20:30002200-30002800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:30006200-30006600	Active TSS	K562	blood
10	chr20:30012800-30013600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:30013000-30013600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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