Variant report

Variant	nsv586028
Chromosome Location	chr20:41296994-41381215
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 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	ATF1	chr20:41370653-41370853	K562	blood:	n/a	n/a
2	BACH1	chr20:41307552-41307915	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr20:41362026-41362032	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr20:41378208-41378560	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr20:41324497-41324521	K562	blood:	n/a	n/a
6	BHLHE40	chr20:41355345-41355582	K562	blood:	n/a	n/a
7	BHLHE40	chr20:41371368-41371745	K562	blood:	n/a	n/a
8	CEBPB	chr20:41347105-41347193	K562	blood:	n/a	n/a
9	CEBPB	chr20:41359726-41359923	HepG2	liver:	n/a	n/a
10	CEBPB	chr20:41341367-41341488	HepG2	liver:	n/a	n/a
11	CEBPB	chr20:41372285-41372407	HepG2	liver:	n/a	chr20:41372350-41372361 chr20:41372349-41372362
12	CEBPB	chr20:41361593-41361847	HepG2	liver:	n/a	chr20:41361684-41361697 chr20:41361685-41361696
13	CEBPB	chr20:41297733-41297951	HepG2	liver:	n/a	chr20:41297799-41297810
14	CEBPB	chr20:41378592-41378801	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr20:41307592-41307848	HepG2	liver:	n/a	n/a
16	CTCF	chr20:41307524-41307973	MCF-7	breast:	n/a	n/a
17	CTCF	chr20:41307640-41307790	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr20:41307680-41307830	GM12874	blood:	n/a	n/a
19	CTCF	chr20:41307660-41307810	BE2_C	brain:	n/a	n/a
20	CTCF	chr20:41307584-41307804	K562	blood:	n/a	n/a
21	CTCF	chr20:41307680-41307830	GM12866	blood:	n/a	n/a
22	CTCF	chr20:41307640-41307790	GM12864	blood:	n/a	n/a
23	CTCF	chr20:41307660-41307810	Caco-2	colon:	n/a	n/a
24	CTCF	chr20:41307556-41307877	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr20:41370216-41370269	GM20000	blood:	n/a	n/a
26	CTCF	chr20:41307689-41307784	GM20000	blood:	n/a	n/a
27	CTCF	chr20:41307634-41307833	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr20:41307660-41307810	HEK293	kidney:	n/a	n/a
29	CTCF	chr20:41307660-41307810	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr20:41307658-41307774	Gliobla	brain:	n/a	n/a
31	CTCF	chr20:41307679-41307793	GM12891	blood:	n/a	n/a
32	CTCF	chr20:41307680-41307830	A549	lung:	n/a	n/a
33	CTCF	chr20:41307720-41307870	HRE	kidney:	n/a	n/a
34	CTCF	chr20:41307660-41307810	HCFaa	heart:	n/a	n/a
35	CTCF	chr20:41307640-41307790	GM12873	blood:	n/a	n/a
36	CTCF	chr20:41307610-41307858	MCF-7	breast:	n/a	n/a
37	CTCF	chr20:41307620-41307770	GM12869	blood:	n/a	n/a
38	CTCF	chr20:41307700-41307850	HL-60	blood:	n/a	n/a
39	CTCF	chr20:41307676-41307808	GM10266	blood:	n/a	n/a
40	CTCF	chr20:41307635-41307831	LNCaP	prostate:	n/a	n/a
41	CTCF	chr20:41307680-41307830	HRE	kidney:	n/a	n/a
42	CTCF	chr20:41307630-41307829	GM12892	blood:	n/a	n/a
43	CTCF	chr20:41307620-41307770	GM12878	blood:	n/a	n/a
44	CTCF	chr20:41362660-41362810	HEK293	kidney:	n/a	n/a
45	CTCF	chr20:41307700-41307850	GM06990	blood:	n/a	n/a
46	CTCF	chr20:41307600-41307750	HPAF	blood vessel:	n/a	n/a
47	CTCF	chr20:41307552-41307918	GM12878	blood:	n/a	n/a
48	CTCF	chr20:41307600-41307750	GM12865	blood:	n/a	n/a
49	CTCF	chr20:41307700-41307850	GM12872	blood:	n/a	n/a
50	CTCF	chr20:41307608-41307865	MCF-7	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:41376932..41379314-chr20:41384669..41386890,2	K562	blood:
2	chr20:41112023..41112867-chr20:41307681..41308188,2	MCF-7	breast:
3	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:
4	chr20:41378883..41381522-chr20:41383064..41386046,2	K562	blood:
5	chr20:41356881..41359207-chr20:41359274..41361954,2	K562	blood:
6	chr20:41238748..41239268-chr20:41307296..41307807,2	MCF-7	breast:
7	chr20:41350902..41352740-chr20:41354249..41356948,2	MCF-7	breast:
8	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:
9	chr20:41356881..41359207-chr20:41359274..41361954,2	K562	blood:
10	chr20:41352782..41354688-chr20:41355194..41357788,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRSF6-3	chr20:41315837-41316285	ENSG00000229042
2	lnc-SRSF6-3	chr20:41314585-41314699	ENSG00000229042
3	lnc-SRSF6-3	chr20:41314788-41314952	ENSG00000229042.2
4	lnc-SRSF6-3	chr20:41314044-41314372	ENSG00000229042.2
5	lnc-SRSF6-3	chr20:41314123-41314471	ENSG00000229042
6	lnc-SRSF6-3	chr20:41314123-41314471	ENSG00000229042.2
7	lnc-SRSF6-3	chr20:41315837-41317202	ENSG00000229042.2
8	lnc-SRSF6-3	chr20:41314788-41314857	ENSG00000229042.2
9	lnc-SRSF6-3	chr20:41314788-41314952	ENSG00000229042
10	lnc-SRSF6-3	chr20:41314526-41314699	ENSG00000229042.2
11	lnc-SRSF6-3	chr20:41314585-41314699	ENSG00000229042.2

No data

Variant related genes	Relation type
ENSG00000229042	TF binding region
CIRBP	miRNA target sites
RND3	miRNA target sites
FAHD1	miRNA target sites

Extended variants
information (count: 3602 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3602 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6065522	chr20:41296994-41296995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6093711	chr20:41297002-41297003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187225531	chr20:41297006-41297007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6093712	chr20:41297018-41297019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139736510	chr20:41297068-41297069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs191942548	chr20:41297069-41297070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537461058	chr20:41297094-41297095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543408776	chr20:41297127-41297128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142972270	chr20:41297128-41297129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372900074	chr20:41297145-41297146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576888264	chr20:41297148-41297149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568235050	chr20:41297179-41297180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150661669	chr20:41297187-41297188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371205540	chr20:41297238-41297239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80321009	chr20:41297251-41297252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6102980	chr20:41297274-41297275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs6102981	chr20:41297297-41297298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73112427	chr20:41297304-41297305	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542039888	chr20:41297315-41297316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75764865	chr20:41297316-41297317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565939755	chr20:41297336-41297337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34658528	chr20:41297337-41297338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs397965451	chr20:41297349-41297350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369937600	chr20:41297363-41297364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370398179	chr20:41297371-41297372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2425509	chr20:41297393-41297394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369710361	chr20:41297524-41297525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572195097	chr20:41297644-41297645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569914569	chr20:41297690-41297691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2425510	chr20:41297693-41297694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540701378	chr20:41297754-41297755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182039300	chr20:41297772-41297773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149796051	chr20:41297794-41297795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534927353	chr20:41297798-41297799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115050034	chr20:41297831-41297832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377577938	chr20:41297833-41297834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568744737	chr20:41297852-41297853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537312409	chr20:41297909-41297910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145734096	chr20:41297939-41297940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531165965	chr20:41297947-41297948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576792957	chr20:41297960-41297961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562077298	chr20:41297971-41297972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545769592	chr20:41297980-41297981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536760840	chr20:41297982-41297983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372371984	chr20:41298066-41298067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553146701	chr20:41298070-41298071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543230739	chr20:41298085-41298086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542052348	chr20:41298086-41298087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117803742	chr20:41298131-41298132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139879062	chr20:41298156-41298157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Thoracic aortic aneurysm	21092924	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:170 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:41271600-41300800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:41300800-41301000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr20:41301000-41301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:41301400-41301600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr20:41301600-41305000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:41303600-41303800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr20:41303600-41303800	Enhancers	Placenta Amnion	Placenta Amnion
8	chr20:41303800-41306600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:41304000-41306200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr20:41304000-41309600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr20:41305000-41306800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr20:41305800-41306600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr20:41306200-41306600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr20:41306600-41306800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr20:41306600-41306800	Enhancers	Pancreas	Pancrea
16	chr20:41306600-41313000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr20:41306800-41310200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:41306800-41311000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr20:41306800-41314000	Weak transcription	Pancreas	Pancrea
20	chr20:41309600-41310200	Enhancers	Placenta Amnion	Placenta Amnion
21	chr20:41310200-41310600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:41310200-41310800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:41310600-41311000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr20:41310800-41312600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr20:41311000-41311800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:41311000-41311800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr20:41311200-41311400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr20:41311200-41311600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr20:41311800-41318200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr20:41314000-41316400	Enhancers	Pancreas	Pancrea
31	chr20:41318200-41319600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr20:41319600-41329200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr20:41326000-41327600	Enhancers	Liver	Liver
34	chr20:41327600-41330400	Weak transcription	Liver	Liver
35	chr20:41328600-41329000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr20:41328600-41330000	Enhancers	Colon Smooth Muscle	Colon
37	chr20:41328600-41330000	Enhancers	Rectal Smooth Muscle	rectum
38	chr20:41328800-41329600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr20:41328800-41329800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr20:41329000-41329200	Enhancers	Brain Hippocampus Middle	brain
41	chr20:41329200-41329800	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr20:41329400-41330800	Weak transcription	Brain Hippocampus Middle	brain
43	chr20:41329600-41331000	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr20:41329800-41330200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr20:41329800-41330800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:41330000-41335200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr20:41330000-41335400	Weak transcription	Colon Smooth Muscle	Colon
48	chr20:41330200-41330400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr20:41330400-41331400	Enhancers	Liver	Liver
50	chr20:41330400-41335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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