Variant report

Variant	nsv1060468
Chromosome Location	chr20:41518010-41700012
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	ARID3A	chr20:41585670-41586007	HepG2	liver:	n/a	n/a
2	BACH1	chr20:41672665-41672865	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:41605643-41605653	K562	blood:	n/a	n/a
4	BACH1	chr20:41636166-41636626	H1-hESC	embryonic stem cell:	n/a	chr20:41636352-41636366
5	BACH1	chr20:41636230-41636535	K562	blood:	n/a	chr20:41636352-41636366
6	BHLHE40	chr20:41611021-41611139	GM12878	blood:	n/a	n/a
7	CEBPB	chr20:41620141-41620346	A549	lung:	n/a	chr20:41620285-41620296
8	CEBPB	chr20:41622355-41622555	H1-hESC	embryonic stem cell:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
9	CEBPB	chr20:41664052-41664419	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
10	CEBPB	chr20:41536391-41536730	IMR90	lung:	n/a	chr20:41536551-41536562 chr20:41536590-41536598 chr20:41536553-41536562 chr20:41536552-41536563
11	CEBPB	chr20:41646382-41646385	HepG2	liver:	n/a	n/a
12	CEBPB	chr20:41661293-41661579	HepG2	liver:	n/a	chr20:41661445-41661456
13	CEBPB	chr20:41587426-41587718	HepG2	liver:	n/a	chr20:41587571-41587582
14	CEBPB	chr20:41565218-41565400	MCF-7	breast:	n/a	n/a
15	CEBPB	chr20:41622250-41622610	HepG2	liver:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
16	CEBPB	chr20:41644482-41644682	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr20:41567243-41567386	HepG2	liver:	n/a	chr20:41567343-41567352 chr20:41567342-41567353 chr20:41567343-41567352 chr20:41567343-41567352 chr20:41567343-41567352
18	CEBPB	chr20:41536502-41536707	H1-hESC	embryonic stem cell:	n/a	chr20:41536551-41536562 chr20:41536590-41536598 chr20:41536553-41536562 chr20:41536552-41536563
19	CEBPB	chr20:41590425-41590756	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr20:41633368-41633693	HepG2	liver:	n/a	chr20:41633540-41633551
21	CEBPB	chr20:41565146-41565478	HepG2	liver:	n/a	n/a
22	CEBPB	chr20:41680987-41681319	HepG2	liver:	n/a	chr20:41681150-41681161
23	CEBPB	chr20:41565237-41565363	K562	blood:	n/a	n/a
24	CEBPB	chr20:41574338-41574613	H1-hESC	embryonic stem cell:	n/a	chr20:41574432-41574443
25	CEBPB	chr20:41567200-41567443	H1-hESC	embryonic stem cell:	n/a	chr20:41567343-41567352 chr20:41567342-41567353 chr20:41567343-41567352 chr20:41567343-41567352 chr20:41567343-41567352
26	CEBPB	chr20:41592518-41592718	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr20:41681030-41681267	A549	lung:	n/a	chr20:41681150-41681161
28	CEBPB	chr20:41536366-41536740	HepG2	liver:	n/a	chr20:41536551-41536562 chr20:41536590-41536598 chr20:41536553-41536562 chr20:41536552-41536563
29	CEBPB	chr20:41565151-41565489	H1-hESC	embryonic stem cell:	n/a	n/a
30	CEBPB	chr20:41574305-41574566	K562	blood:	n/a	chr20:41574432-41574443
31	CEBPB	chr20:41622364-41622592	A549	lung:	n/a	chr20:41622426-41622437 chr20:41622426-41622439
32	CEBPB	chr20:41574260-41574613	IMR90	lung:	n/a	chr20:41574432-41574443
33	CEBPB	chr20:41620125-41620453	HepG2	liver:	n/a	chr20:41620285-41620296
34	CEBPB	chr20:41574257-41574621	HepG2	liver:	n/a	chr20:41574432-41574443
35	CEBPB	chr20:41664115-41664307	HepG2	liver:	n/a	chr20:41664230-41664247 chr20:41664233-41664246 chr20:41664233-41664244
36	CEBPB	chr20:41536486-41536704	K562	blood:	n/a	chr20:41536551-41536562 chr20:41536590-41536598 chr20:41536553-41536562 chr20:41536552-41536563
37	CEBPB	chr20:41574305-41574624	A549	lung:	n/a	chr20:41574432-41574443
38	CEBPB	chr20:41659545-41659739	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:41536423-41536679	Hela-S3	cervix:	n/a	chr20:41536551-41536562 chr20:41536590-41536598 chr20:41536553-41536562 chr20:41536552-41536563
40	CEBPB	chr20:41536390-41536711	A549	lung:	n/a	chr20:41536551-41536562 chr20:41536590-41536598 chr20:41536553-41536562 chr20:41536552-41536563
41	CEBPB	chr20:41528719-41528765	HepG2	liver:	n/a	n/a
42	CEBPB	chr20:41644567-41644767	IMR90	lung:	n/a	n/a
43	CEBPB	chr20:41567302-41567393	A549	lung:	n/a	chr20:41567343-41567352 chr20:41567342-41567353 chr20:41567343-41567352 chr20:41567343-41567352 chr20:41567343-41567352
44	CEBPB	chr20:41644558-41644715	HepG2	liver:	n/a	n/a
45	CEBPB	chr20:41549205-41549461	HepG2	liver:	n/a	chr20:41549293-41549304
46	CHD2	chr20:41663915-41663923	HepG2	liver:	n/a	n/a
47	CHD2	chr20:41616158-41616203	GM12878	blood:	n/a	n/a
48	CHD2	chr20:41630561-41630855	K562	blood:	n/a	n/a
49	CHD2	chr20:41596403-41596460	HepG2	liver:	n/a	n/a
50	CTCF	chr20:41570640-41570790	Caco-2	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:41524333..41525845-chr20:41525883..41528573,2	K562	blood:
2	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
3	chr12:49658404..49658949-chr20:41685431..41685931,2	Hela-S3	cervix:
4	chr20:41572373..41574643-chr20:41588913..41591007,2	K562	blood:
5	chr20:41677752..41680508-chr20:41685559..41689168,3	K562	blood:
6	chr20:41659308..41661775-chr20:41665060..41666705,2	K562	blood:
7	chr20:41572373..41574643-chr20:41588913..41591007,2	K562	blood:
8	chr20:41566421..41568551-chr20:41574947..41576536,2	K562	blood:
9	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:
10	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
11	chr20:41604185..41605819-chr20:41706892..41709646,2	K562	blood:
12	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
13	chr20:41652021..41653752-chr20:41657650..41660370,2	K562	blood:
14	chr20:41677752..41680508-chr20:41685559..41689168,3	K562	blood:
15	chr20:41581157..41584149-chr20:41593651..41596764,3	K562	blood:
16	chr20:41637939..41639575-chr20:41640283..41642711,2	MCF-7	breast:
17	chr20:41652252..41654043-chr20:41657650..41660431,2	K562	blood:
18	chr20:41524333..41525845-chr20:41525883..41528573,2	K562	blood:
19	chr20:41566421..41568551-chr20:41574947..41576536,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-9	chr20:41691966-41692249	NONHSAT079809
2	lnc-SRSF6-2	chr20:41597383-41598301	ENSG00000227599.1
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
ENSG00000258101	chromatin interactions
ENSG00000196090	chromatin interactions
ENSG00000167553	chromatin interactions

Extended variants
information (count: 6982 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:6982 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6130242	chr20:41518093-41518094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs79384138	chr20:41518116-41518117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377283130	chr20:41518158-41518159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544449112	chr20:41518168-41518169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574495569	chr20:41518173-41518174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373345921	chr20:41518180-41518181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141761971	chr20:41518187-41518188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558247091	chr20:41518200-41518201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542218496	chr20:41518204-41518205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183520500	chr20:41518205-41518206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117355378	chr20:41518236-41518237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531624245	chr20:41518257-41518258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545009312	chr20:41518265-41518266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565066891	chr20:41518294-41518295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527514393	chr20:41518376-41518377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6030547	chr20:41518403-41518404	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs6016918	chr20:41518470-41518471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150165413	chr20:41518494-41518495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549391975	chr20:41518503-41518504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569193292	chr20:41518517-41518518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538512452	chr20:41518526-41518527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186660815	chr20:41518530-41518531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527320192	chr20:41518602-41518603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6030548	chr20:41518725-41518726	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553405391	chr20:41518744-41518745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138669154	chr20:41518747-41518748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542352935	chr20:41518807-41518808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377554663	chr20:41518827-41518828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191513126	chr20:41518838-41518839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575981550	chr20:41518860-41518861	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370794016	chr20:41518877-41518878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs545258219	chr20:41518969-41518970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565045430	chr20:41518982-41518983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184709066	chr20:41518999-41519000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541227002	chr20:41519094-41519095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374291426	chr20:41519113-41519114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561109548	chr20:41519130-41519131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529393512	chr20:41519155-41519156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542731751	chr20:41519191-41519192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569206133	chr20:41519212-41519213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6030549	chr20:41519220-41519221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs190031848	chr20:41519263-41519264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73907301	chr20:41519267-41519268	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs374466308	chr20:41519292-41519293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547573880	chr20:41519324-41519325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6072897	chr20:41519354-41519355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567553519	chr20:41519363-41519364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181648386	chr20:41519365-41519366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371941289	chr20:41519397-41519398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11907313	chr20:41519448-41519449	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:100)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	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
Breast cancer	17001317	CNVD
Breast cancer	17157792	CNVD
Barrett''s esophagus	18559552	CNVD
Renal cell carcinoma	18765545	CNVD
Lung cancer	16740712	CNVD

Chromatin state (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41517200-41522000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr20:41517800-41518400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:41517800-41518400	Enhancers	Pancreas	Pancrea
4	chr20:41521200-41521600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:41522000-41522400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41522400-41528400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr20:41522800-41523400	Enhancers	Gastric	stomach
8	chr20:41522800-41523600	Enhancers	Left Ventricle	heart
9	chr20:41522800-41523600	Enhancers	Pancreas	Pancrea
10	chr20:41522800-41524000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:41523600-41529000	Weak transcription	Pancreas	Pancrea
12	chr20:41524000-41525400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr20:41525400-41526400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr20:41526400-41530600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr20:41527600-41527800	Enhancers	Fetal Stomach	stomach
16	chr20:41527800-41528400	Weak transcription	Fetal Stomach	stomach
17	chr20:41528400-41528600	Enhancers	Fetal Stomach	stomach
18	chr20:41528400-41529600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:41528600-41530200	Weak transcription	Fetal Stomach	stomach
20	chr20:41529000-41531800	Enhancers	Pancreas	Pancrea
21	chr20:41529200-41531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr20:41529600-41533400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr20:41529800-41530000	Enhancers	Spleen	Spleen
24	chr20:41529800-41531200	Enhancers	Left Ventricle	heart
25	chr20:41529800-41531400	Enhancers	Adipose Nuclei	Adipose
26	chr20:41530000-41531400	ZNF genes & repeats	HepG2	liver
27	chr20:41530000-41543800	Weak transcription	Spleen	Spleen
28	chr20:41530200-41530400	Enhancers	Fetal Stomach	stomach
29	chr20:41530200-41531400	Enhancers	Liver	Liver
30	chr20:41530400-41530800	Weak transcription	Fetal Stomach	stomach
31	chr20:41530600-41531200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr20:41530800-41532800	Enhancers	Fetal Stomach	stomach
33	chr20:41531200-41532800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr20:41531800-41532800	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr20:41531800-41534800	Weak transcription	Pancreas	Pancrea
36	chr20:41533000-41533200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr20:41533400-41534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr20:41534800-41535000	Enhancers	Pancreas	Pancrea
39	chr20:41534800-41535400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr20:41535400-41547200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr20:41538800-41539400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr20:41539400-41541400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr20:41541400-41542400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr20:41542400-41542600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr20:41542600-41544000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr20:41542800-41543400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr20:41543400-41544600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr20:41543800-41544200	Enhancers	Spleen	Spleen
49	chr20:41544000-41544200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr20:41544200-41553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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