Variant report

Variant	nsv869774
Chromosome Location	chr20:41595567-41746533
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	chr20:41672665-41672865	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr20:41605643-41605653	K562	blood:	n/a	n/a
3	BACH1	chr20:41636230-41636535	K562	blood:	n/a	chr20:41636352-41636366
4	BACH1	chr20:41636166-41636626	H1-hESC	embryonic stem cell:	n/a	chr20:41636352-41636366
5	BHLHE40	chr20:41611021-41611139	GM12878	blood:	n/a	n/a
6	CEBPB	chr20:41680987-41681319	HepG2	liver:	n/a	chr20:41681150-41681161
7	CEBPB	chr20:41664115-41664307	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
8	CEBPB	chr20:41620125-41620453	HepG2	liver:	n/a	chr20:41620285-41620296
9	CEBPB	chr20:41622250-41622610	HepG2	liver:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
10	CEBPB	chr20:41740730-41741288	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:41644558-41644715	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:41729996-41730207	K562	blood:	n/a	chr20:41730165-41730176
13	CEBPB	chr20:41740756-41741275	IMR90	lung:	n/a	n/a
14	CEBPB	chr20:41661293-41661579	HepG2	liver:	n/a	chr20:41661445-41661456
15	CEBPB	chr20:41740909-41741258	MCF-7	breast:	n/a	n/a
16	CEBPB	chr20:41620141-41620346	A549	lung:	n/a	chr20:41620285-41620296
17	CEBPB	chr20:41622355-41622555	H1-hESC	embryonic stem cell:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
18	CEBPB	chr20:41740913-41741223	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr20:41633368-41633693	HepG2	liver:	n/a	chr20:41633540-41633551
20	CEBPB	chr20:41740948-41741262	K562	blood:	n/a	n/a
21	CEBPB	chr20:41646382-41646385	HepG2	liver:	n/a	n/a
22	CEBPB	chr20:41644567-41644767	IMR90	lung:	n/a	n/a
23	CEBPB	chr20:41727060-41727233	HepG2	liver:	n/a	chr20:41727081-41727094
24	CEBPB	chr20:41730023-41730286	HepG2	liver:	n/a	chr20:41730165-41730176
25	CEBPB	chr20:41740931-41741268	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr20:41664052-41664419	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
27	CEBPB	chr20:41659545-41659739	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:41622364-41622592	A549	lung:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
29	CEBPB	chr20:41681030-41681267	A549	lung:	n/a	chr20:41681150-41681161
30	CEBPB	chr20:41740952-41741288	A549	lung:	n/a	n/a
31	CEBPB	chr20:41644482-41644682	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr20:41596403-41596460	HepG2	liver:	n/a	n/a
33	CHD2	chr20:41616158-41616203	GM12878	blood:	n/a	n/a
34	CHD2	chr20:41663915-41663923	HepG2	liver:	n/a	n/a
35	CHD2	chr20:41630561-41630855	K562	blood:	n/a	n/a
36	CTBP2	chr20:41724713-41725585	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr20:41731140-41731290	GM12869	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
38	CTCF	chr20:41689980-41690130	HepG2	liver:	n/a	n/a
39	CTCF	chr20:41731098-41731315	K562	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
40	CTCF	chr20:41731180-41731330	HL-60	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
41	CTCF	chr20:41646409-41646629	H1-hESC	embryonic stem cell:	n/a	chr20:41646511-41646524
42	CTCF	chr20:41614360-41614510	GM12874	blood:	n/a	n/a
43	CTCF	chr20:41731067-41731378	MCF-7	breast:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
44	CTCF	chr20:41614420-41614570	K562	blood:	n/a	n/a
45	CTCF	chr20:41737930-41737980	Lung_OC	lung:	n/a	n/a
46	CTCF	chr20:41614440-41614590	MCF-7	breast:	n/a	n/a
47	CTCF	chr20:41614420-41614570	HEK293	kidney:	n/a	n/a
48	CTCF	chr20:41614407-41614504	GM12878	blood:	n/a	n/a
49	CTCF	chr20:41614360-41614510	GM12873	blood:	n/a	n/a
50	CTCF	chr20:41731080-41731230	A549	lung:	n/a	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-2	chr20:41597383-41598301	ENSG00000227599.1
2	lnc-SRSF6-9	chr20:41691966-41692249	NONHSAT079809
3	lnc-SRSF6-2	chr20:41599466-41600132	ENSG00000227599.1

Variant related genes	Relation type
ENSG00000227599	TF binding region
RN7SKP100	TF binding region
PTPRT	TF binding region
ENSG00000167553	chromatin interactions
ENSG00000258101	chromatin interactions

Extended variants
information (count: 5766 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:5766 , 50 per page) page: 1 2 3 4 5 6 7 ... 116

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574702049	chr20:41595607-41595608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs543790668	chr20:41595615-41595616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539728609	chr20:41595741-41595742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191029208	chr20:41595792-41595793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563389607	chr20:41595866-41595867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532641967	chr20:41595875-41595876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144796088	chr20:41595878-41595879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551815946	chr20:41595896-41595897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6072915	chr20:41595968-41595969	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs141856356	chr20:41595989-41595990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547932746	chr20:41596011-41596012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568159493	chr20:41596031-41596032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534171524	chr20:41596093-41596094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182731198	chr20:41596112-41596113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555401910	chr20:41596113-41596114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570491400	chr20:41596139-41596140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539729980	chr20:41596288-41596289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188102459	chr20:41596294-41596295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62204005	chr20:41596303-41596304	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75174344	chr20:41596365-41596366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34095623	chr20:41596382-41596383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117158192	chr20:41596404-41596405	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs544398631	chr20:41596411-41596412	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs73273641	chr20:41596421-41596422	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543578131	chr20:41596423-41596424	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs563323978	chr20:41596426-41596427	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs372989013	chr20:41596435-41596436	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs375852887	chr20:41596441-41596442	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs546057799	chr20:41596442-41596443	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs191196665	chr20:41596462-41596463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528639185	chr20:41596463-41596464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182940236	chr20:41596512-41596513	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs6016927	chr20:41596522-41596523	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs529788483	chr20:41596532-41596533	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs577739494	chr20:41596560-41596561	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs370211179	chr20:41596572-41596573	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs530606605	chr20:41596581-41596582	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs148296763	chr20:41596582-41596583	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs560227798	chr20:41596653-41596654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570428373	chr20:41596657-41596658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141433519	chr20:41596705-41596706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150845305	chr20:41596715-41596716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116021830	chr20:41596727-41596728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376216392	chr20:41596734-41596735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542459965	chr20:41596758-41596759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555515901	chr20:41596775-41596776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187557744	chr20:41596791-41596792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537516536	chr20:41596806-41596807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139314853	chr20:41596844-41596845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576778152	chr20:41596873-41596874	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
Myelofibrosis	22110671	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	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21804112	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
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:264 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41592600-41608200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41593000-41607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr20:41593200-41600800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr20:41595200-41595600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr20:41596200-41596400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr20:41600800-41601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:41601000-41608000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr20:41603000-41603200	Bivalent Enhancer	Fetal Brain Male	brain
9	chr20:41603000-41603600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:41607000-41607400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:41607200-41607400	Enhancers	H9 Cell Line	embryonic stem cell
12	chr20:41607400-41607600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr20:41607400-41607600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr20:41607400-41608800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr20:41607400-41609800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr20:41607400-41609800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:41607600-41608000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:41607600-41609400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr20:41608000-41608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:41608000-41608800	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr20:41608000-41608800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr20:41608000-41608800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr20:41608000-41609600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr20:41608000-41610200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr20:41608200-41610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr20:41608400-41608600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr20:41608600-41609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr20:41608800-41609000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr20:41608800-41609000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr20:41608800-41609200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr20:41608800-41609200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr20:41608800-41609200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr20:41608800-41609600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr20:41608800-41609800	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr20:41609000-41609200	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr20:41609000-41609600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr20:41609000-41609600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr20:41609200-41609400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr20:41609200-41609400	Bivalent Enhancer	Fetal Brain Male	brain
40	chr20:41609200-41610000	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr20:41609200-41610000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr20:41609200-41610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr20:41609200-41610200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr20:41609400-41610200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr20:41609400-41612000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:41609600-41610200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
47	chr20:41609600-41611800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr20:41609800-41610000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
49	chr20:41609800-41610200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr20:41609800-41612400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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