Variant report

Variant	nsv1065908
Chromosome Location	chr20:41620966-41735969
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	BACH1	chr20:41636230-41636535	K562	blood:	n/a	chr20:41636352-41636366
2	BACH1	chr20:41636166-41636626	H1-hESC	embryonic stem cell:	n/a	chr20:41636352-41636366
3	BACH1	chr20:41672665-41672865	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr20:41622355-41622555	H1-hESC	embryonic stem cell:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
5	CEBPB	chr20:41622250-41622610	HepG2	liver:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
6	CEBPB	chr20:41644567-41644767	IMR90	lung:	n/a	n/a
7	CEBPB	chr20:41727060-41727233	HepG2	liver:	n/a	chr20:41727081-41727094
8	CEBPB	chr20:41661293-41661579	HepG2	liver:	n/a	chr20:41661445-41661456
9	CEBPB	chr20:41659545-41659739	HepG2	liver:	n/a	n/a
10	CEBPB	chr20:41680987-41681319	HepG2	liver:	n/a	chr20:41681150-41681161
11	CEBPB	chr20:41664115-41664307	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
12	CEBPB	chr20:41729996-41730207	K562	blood:	n/a	chr20:41730165-41730176
13	CEBPB	chr20:41664052-41664419	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
14	CEBPB	chr20:41622364-41622592	A549	lung:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
15	CEBPB	chr20:41646382-41646385	HepG2	liver:	n/a	n/a
16	CEBPB	chr20:41633368-41633693	HepG2	liver:	n/a	chr20:41633540-41633551
17	CEBPB	chr20:41730023-41730286	HepG2	liver:	n/a	chr20:41730165-41730176
18	CEBPB	chr20:41644482-41644682	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr20:41681030-41681267	A549	lung:	n/a	chr20:41681150-41681161
20	CEBPB	chr20:41644558-41644715	HepG2	liver:	n/a	n/a
21	CHD2	chr20:41630561-41630855	K562	blood:	n/a	n/a
22	CHD2	chr20:41663915-41663923	HepG2	liver:	n/a	n/a
23	CTBP2	chr20:41724713-41725585	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr20:41731240-41731390	GM12868	blood:	n/a	n/a
25	CTCF	chr20:41731180-41731330	Caco-2	colon:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
26	CTCF	chr20:41731100-41731250	GM12878	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
27	CTCF	chr20:41661200-41661350	GM12875	blood:	n/a	n/a
28	CTCF	chr20:41731132-41731327	A549	lung:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
29	CTCF	chr20:41646480-41646630	WERI-Rb-1	eye:	n/a	chr20:41646511-41646524
30	CTCF	chr20:41731180-41731300	GM19240	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
31	CTCF	chr20:41731165-41731307	GM19239	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
32	CTCF	chr20:41661220-41661370	Caco-2	colon:	n/a	n/a
33	CTCF	chr20:41648320-41648470	GM12872	blood:	n/a	n/a
34	CTCF	chr20:41731160-41731310	SK-N-SH_RA	brain:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
35	CTCF	chr20:41731180-41731330	GM12873	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
36	CTCF	chr20:41731161-41731333	GM13977	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
37	CTCF	chr20:41731140-41731290	HRE	kidney:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
38	CTCF	chr20:41731180-41731330	RPTEC	kidney:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
39	CTCF	chr20:41731187-41731274	GM12878	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
40	CTCF	chr20:41731185-41731276	Gliobla	brain:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
41	CTCF	chr20:41731140-41731290	NB4	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
42	CTCF	chr20:41731180-41731330	GM12869	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
43	CTCF	chr20:41731180-41731330	HL-60	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
44	CTCF	chr20:41731114-41731401	H1-hESC	embryonic stem cell:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
45	CTCF	chr20:41731156-41731322	GM12891	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
46	CTCF	chr20:41731180-41731330	HRE	kidney:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
47	CTCF	chr20:41731148-41731316	GM12892	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
48	CTCF	chr20:41731195-41731270	GM10266	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
49	CTCF	chr20:41689980-41690130	HepG2	liver:	n/a	n/a
50	CTCF	chr20:41731080-41731230	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
2	chr20:41604185..41605819-chr20:41706892..41709646,2	K562	blood:
3	chr20:41677752..41680508-chr20:41685559..41689168,3	K562	blood:
4	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
5	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
6	chr12:49658404..49658949-chr20:41685431..41685931,2	Hela-S3	cervix:
7	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:
8	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:
9	chr20:41708109..41710025-chr20:41717070..41720006,2	MCF-7	breast:
10	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
11	chr20:41708109..41710025-chr20:41717070..41720006,2	MCF-7	breast:
12	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
13	chr20:41677752..41680508-chr20:41685559..41689168,3	K562	blood:
14	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-9	chr20:41691966-41692249	NONHSAT079809

Variant related genes	Relation type
RN7SKP100	TF binding region
ENSG00000258101	chromatin interactions
ENSG00000167553	chromatin interactions

Extended variants
information (count: 4403 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:4403 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552356157	chr20:41620968-41620969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145383570	chr20:41620985-41620986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534253695	chr20:41620996-41620997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529288931	chr20:41621025-41621026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574882824	chr20:41621049-41621050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574107481	chr20:41621063-41621064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6065560	chr20:41621072-41621073	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs6016933	chr20:41621079-41621080	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs576289097	chr20:41621080-41621081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183972944	chr20:41621089-41621090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565107286	chr20:41621111-41621112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6016934	chr20:41621114-41621115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6093770	chr20:41621133-41621134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549014058	chr20:41621156-41621157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77658490	chr20:41621171-41621172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529841528	chr20:41621199-41621200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549500290	chr20:41621210-41621211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563278208	chr20:41621222-41621223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532422100	chr20:41621228-41621229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs552518571	chr20:41621254-41621255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566016471	chr20:41621332-41621333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79213769	chr20:41621355-41621356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs188699952	chr20:41621356-41621357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143419267	chr20:41621405-41621406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567646307	chr20:41621441-41621442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs36020747	chr20:41621456-41621457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536761984	chr20:41621524-41621525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546623875	chr20:41621546-41621547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6030591	chr20:41621605-41621606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569736268	chr20:41621617-41621618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538910999	chr20:41621622-41621623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191906515	chr20:41621709-41621710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148191884	chr20:41621715-41621716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs142717787	chr20:41621733-41621734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373996911	chr20:41621739-41621740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574406961	chr20:41621754-41621755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543528529	chr20:41621763-41621764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563243325	chr20:41621789-41621790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368152689	chr20:41621825-41621826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545846046	chr20:41621843-41621844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559682617	chr20:41621864-41621865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6030592	chr20:41621885-41621886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs548039522	chr20:41621891-41621892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568250389	chr20:41621895-41621896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530108004	chr20:41621914-41621915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549878180	chr20:41621915-41621916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs569848359	chr20:41621916-41621917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185288328	chr20:41621927-41621928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558572362	chr20:41621931-41621932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190273309	chr20:41621956-41621957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	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
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Colorectal cancer	16774939	CNVD
Cervical cancer	21062161	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	20585902	CNVD
Ductal carcinoma	18381933	CNVD
Cancer	21129771	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	20864512	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Cervical cancer	16585170	CNVD
Developmental delay	21373258	CNVD
Breast cancer	21806811	CNVD
Mental retardation	17901693	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Barrett''s esophagus	18559552	CNVD
Renal cell carcinoma	18765545	CNVD
Lung cancer	16740712	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Alcoholism	21790672	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41620200-41626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:41620600-41621000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr20:41621000-41621200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr20:41621200-41622400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:41622400-41625800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr20:41625800-41626600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr20:41626400-41626600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr20:41626600-41626800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr20:41626800-41629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:41629200-41629600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr20:41629600-41636400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr20:41632000-41632400	Enhancers	Fetal Lung	lung
13	chr20:41632400-41635200	Weak transcription	Fetal Lung	lung
14	chr20:41633600-41633800	Enhancers	Pancreas	Pancrea
15	chr20:41633800-41634000	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr20:41633800-41635400	Weak transcription	Pancreas	Pancrea
17	chr20:41635200-41635800	Enhancers	Fetal Lung	lung
18	chr20:41635200-41636600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr20:41635400-41635600	Enhancers	Pancreas	Pancrea
20	chr20:41635800-41636200	Weak transcription	Fetal Lung	lung
21	chr20:41636000-41636600	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr20:41636200-41636400	Enhancers	Aorta	Aorta
23	chr20:41636200-41636800	Enhancers	Fetal Lung	lung
24	chr20:41636400-41637000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr20:41636400-41637200	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:41642400-41642600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:41642600-41643000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr20:41643600-41644000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr20:41644000-41646200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr20:41644400-41645400	Enhancers	Fetal Brain Female	brain
31	chr20:41644600-41646800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr20:41645400-41645800	Weak transcription	Fetal Brain Female	brain
33	chr20:41645800-41646200	Enhancers	Fetal Brain Female	brain
34	chr20:41646000-41646600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr20:41646000-41647200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr20:41646200-41646400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:41646200-41646600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr20:41646200-41646800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr20:41646200-41647600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr20:41646200-41647600	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr20:41646400-41646600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr20:41646600-41650000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr20:41646800-41650000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr20:41649800-41650400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:41650000-41650800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr20:41650000-41652800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr20:41652800-41656400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr20:41654600-41672800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr20:41656400-41657000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr20:41656800-41657000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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