Variant report

Variant	nsv948829
Chromosome Location	chr20:41598995-41742176
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	chr20:41636166-41636626	H1-hESC	embryonic stem cell:	n/a	chr20:41636352-41636366
2	BACH1	chr20:41605643-41605653	K562	blood:	n/a	n/a
3	BACH1	chr20:41672665-41672865	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr20:41636230-41636535	K562	blood:	n/a	chr20:41636352-41636366
5	BHLHE40	chr20:41611021-41611139	GM12878	blood:	n/a	n/a
6	CEBPB	chr20:41644567-41644767	IMR90	lung:	n/a	n/a
7	CEBPB	chr20:41740952-41741288	A549	lung:	n/a	n/a
8	CEBPB	chr20:41681030-41681267	A549	lung:	n/a	chr20:41681150-41681161
9	CEBPB	chr20:41740913-41741223	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr20:41740948-41741262	K562	blood:	n/a	n/a
11	CEBPB	chr20:41740909-41741258	MCF-7	breast:	n/a	n/a
12	CEBPB	chr20:41729996-41730207	K562	blood:	n/a	chr20:41730165-41730176
13	CEBPB	chr20:41644482-41644682	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr20:41730023-41730286	HepG2	liver:	n/a	chr20:41730165-41730176
15	CEBPB	chr20:41740931-41741268	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr20:41680987-41681319	HepG2	liver:	n/a	chr20:41681150-41681161
17	CEBPB	chr20:41664052-41664419	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
18	CEBPB	chr20:41659545-41659739	HepG2	liver:	n/a	n/a
19	CEBPB	chr20:41622250-41622610	HepG2	liver:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
20	CEBPB	chr20:41622355-41622555	H1-hESC	embryonic stem cell:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
21	CEBPB	chr20:41661293-41661579	HepG2	liver:	n/a	chr20:41661445-41661456
22	CEBPB	chr20:41620141-41620346	A549	lung:	n/a	chr20:41620285-41620296
23	CEBPB	chr20:41633368-41633693	HepG2	liver:	n/a	chr20:41633540-41633551
24	CEBPB	chr20:41646382-41646385	HepG2	liver:	n/a	n/a
25	CEBPB	chr20:41620125-41620453	HepG2	liver:	n/a	chr20:41620285-41620296
26	CEBPB	chr20:41727060-41727233	HepG2	liver:	n/a	chr20:41727081-41727094
27	CEBPB	chr20:41644558-41644715	HepG2	liver:	n/a	n/a
28	CEBPB	chr20:41740730-41741288	HepG2	liver:	n/a	n/a
29	CEBPB	chr20:41740756-41741275	IMR90	lung:	n/a	n/a
30	CEBPB	chr20:41664115-41664307	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
31	CEBPB	chr20:41622364-41622592	A549	lung:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
32	CHD2	chr20:41630561-41630855	K562	blood:	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	CTBP2	chr20:41724713-41725585	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr20:41614407-41614510	GM12892	blood:	n/a	n/a
37	CTCF	chr20:41661220-41661370	Caco-2	colon:	n/a	n/a
38	CTCF	chr20:41731132-41731305	GM12878	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
39	CTCF	chr20:41614460-41614610	GM12869	blood:	n/a	n/a
40	CTCF	chr20:41731165-41731307	GM19239	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
41	CTCF	chr20:41731160-41731310	GM06990	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
42	CTCF	chr20:41731160-41731310	GM12871	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
43	CTCF	chr20:41731020-41731170	A549	lung:	n/a	n/a
44	CTCF	chr20:41731114-41731401	H1-hESC	embryonic stem cell:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
45	CTCF	chr20:41614301-41614623	K562	blood:	n/a	n/a
46	CTCF	chr20:41661140-41661290	GM12864	blood:	n/a	n/a
47	CTCF	chr20:41646486-41646506	MCF-7	breast:	n/a	n/a
48	CTCF	chr20:41731055-41731348	K562	blood:	n/a	chr20:41731224-41731233 chr20:41731224-41731237
49	CTCF	chr20:41614426-41614497	A549	lung:	n/a	n/a
50	CTCF	chr20:41731160-41731310	HepG2	liver:	n/a	chr20:41731224-41731233 chr20:41731224-41731237

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

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

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

Extended variants
information (count: 5478 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:5478 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6030572	chr20:41598995-41598996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs578182399	chr20:41599014-41599015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534138872	chr20:41599055-41599056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553985636	chr20:41599098-41599099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554384704	chr20:41599149-41599150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181716980	chr20:41599211-41599212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542736232	chr20:41599225-41599226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138669531	chr20:41599226-41599227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575650281	chr20:41599243-41599244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572270913	chr20:41599255-41599256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544878116	chr20:41599267-41599268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564841333	chr20:41599344-41599345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527445341	chr20:41599367-41599368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs140364029	chr20:41599470-41599471	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs561162400	chr20:41599495-41599496	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs374581668	chr20:41599542-41599543	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs534170119	chr20:41599543-41599544	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs529350963	chr20:41599605-41599606	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs549468656	chr20:41599610-41599611	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs145545527	chr20:41599614-41599615	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs544641721	chr20:41599626-41599627	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs531739987	chr20:41599629-41599630	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs138103014	chr20:41599663-41599664	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs187347671	chr20:41599700-41599701	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs571959256	chr20:41599707-41599708	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs149343103	chr20:41599719-41599720	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs371954208	chr20:41599743-41599744	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs575860319	chr20:41599787-41599788	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs117354942	chr20:41599795-41599796	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs144683941	chr20:41599819-41599820	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs575588684	chr20:41599855-41599856	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs190426653	chr20:41599858-41599859	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs111422730	chr20:41599919-41599920	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs148100814	chr20:41599979-41599980	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs6072916	chr20:41600011-41600012	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541348438	chr20:41600096-41600097	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs118090478	chr20:41600101-41600102	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186049983	chr20:41600110-41600111	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs533321259	chr20:41600127-41600128	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs533505874	chr20:41600175-41600176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545078876	chr20:41600251-41600252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562979859	chr20:41600267-41600268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531881827	chr20:41600326-41600327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562665405	chr20:41600360-41600361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115370640	chr20:41600407-41600408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571698363	chr20:41600431-41600432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76843136	chr20:41600503-41600504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560812309	chr20:41600504-41600505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527964212	chr20:41600565-41600566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73273648	chr20:41600676-41600677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:260 , 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	chr20:41600800-41601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:41601000-41608000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr20:41603000-41603200	Bivalent Enhancer	Fetal Brain Male	brain
7	chr20:41603000-41603600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr20:41607000-41607400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:41607200-41607400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr20:41607400-41607600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr20:41607400-41607600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr20:41607400-41608800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr20:41607400-41609800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:41607400-41609800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr20:41607600-41608000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr20:41607600-41609400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr20:41608000-41608800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:41608000-41608800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:41608000-41608800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:41608000-41608800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr20:41608000-41609600	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr20:41608000-41610200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:41608200-41610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr20:41608400-41608600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr20:41608600-41609200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr20:41608800-41609000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr20:41608800-41609000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr20:41608800-41609200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr20:41608800-41609200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr20:41608800-41609200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr20:41608800-41609600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr20:41608800-41609800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr20:41609000-41609200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr20:41609000-41609600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr20:41609000-41609600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr20:41609200-41609400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr20:41609200-41609400	Bivalent Enhancer	Fetal Brain Male	brain
38	chr20:41609200-41610000	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr20:41609200-41610000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr20:41609200-41610200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr20:41609200-41610200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
42	chr20:41609400-41610200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr20:41609400-41612000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr20:41609600-41610200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
45	chr20:41609600-41611800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:41609800-41610000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
47	chr20:41609800-41610200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr20:41609800-41612400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr20:41610000-41610200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
50	chr20:41610000-41610200	Enhancers	Gastric	stomach

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