Variant report

Variant	nsv889075
Chromosome Location	chr7:116552859-116610237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1513)
CpG islands
(count:1713)
Chromatin interactive
region (count:140)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:1513 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:116594353-116594714	K562	blood:	n/a	n/a
2	ARID3A	chr7:116591226-116592302	K562	blood:	n/a	n/a
3	ARID3A	chr7:116592959-116593430	K562	blood:	n/a	n/a
4	ARID3A	chr7:116583371-116583391	K562	blood:	n/a	n/a
5	ARID3A	chr7:116598666-116598759	K562	blood:	n/a	n/a
6	ARID3A	chr7:116597971-116598049	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:116590161-116590410	K562	blood:	n/a	n/a
8	ARID3A	chr7:116592879-116593786	HepG2	liver:	n/a	chr7:116593446-116593454
9	ARID3A	chr7:116597971-116597974	K562	blood:	n/a	n/a
10	ARID3A	chr7:116607632-116607746	HepG2	liver:	n/a	n/a
11	ARID3A	chr7:116594281-116594538	HepG2	liver:	n/a	n/a
12	ARID3A	chr7:116591418-116592150	HepG2	liver:	n/a	n/a
13	ARID3A	chr7:116595434-116595845	K562	blood:	n/a	n/a
14	ATF1	chr7:116594248-116594612	K562	blood:	n/a	n/a
15	ATF1	chr7:116590068-116590382	K562	blood:	n/a	n/a
16	ATF1	chr7:116561819-116561877	K562	blood:	n/a	n/a
17	ATF1	chr7:116591526-116591971	K562	blood:	n/a	n/a
18	ATF2	chr7:116594219-116594626	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr7:116594295-116594612	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr7:116595612-116596370	GM12878	blood:	n/a	n/a
21	ATF2	chr7:116595085-116596376	GM12878	blood:	n/a	n/a
22	ATF3	chr7:116590033-116590480	K562	blood:	n/a	n/a
23	ATF3	chr7:116590142-116590374	K562	blood:	n/a	n/a
24	ATF3	chr7:116594157-116594603	K562	blood:	n/a	n/a
25	ATF3	chr7:116593147-116593679	K562	blood:	n/a	n/a
26	BACH1	chr7:116593954-116594712	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr7:116592079-116592329	K562	blood:	n/a	n/a
28	BACH1	chr7:116590956-116591366	K562	blood:	n/a	n/a
29	BACH1	chr7:116570550-116570930	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr7:116593082-116593376	H1-hESC	embryonic stem cell:	n/a	n/a
31	BATF	chr7:116595769-116596238	GM12878	blood:	n/a	chr7:116596017-116596028
32	BATF	chr7:116595754-116596266	GM12878	blood:	n/a	chr7:116596017-116596028
33	BATF	chr7:116594242-116594574	GM12878	blood:	n/a	n/a
34	BATF	chr7:116594217-116594604	GM12878	blood:	n/a	n/a
35	BATF	chr7:116578800-116579035	GM12878	blood:	n/a	chr7:116578902-116578911
36	BATF	chr7:116578760-116579040	GM12878	blood:	n/a	chr7:116578902-116578911
37	BCL11A	chr7:116595831-116596197	GM12878	blood:	n/a	n/a
38	BCL11A	chr7:116595789-116596172	GM12878	blood:	n/a	n/a
39	BCL3	chr7:116593431-116593862	A549	lung:	n/a	n/a
40	BCLAF1	chr7:116595693-116596388	GM12878	blood:	n/a	n/a
41	BCLAF1	chr7:116593480-116594465	GM12878	blood:	n/a	n/a
42	BCLAF1	chr7:116594036-116594725	GM12878	blood:	n/a	n/a
43	BCLAF1	chr7:116595710-116596300	GM12878	blood:	n/a	n/a
44	BCLAF1	chr7:116593851-116595271	K562	blood:	n/a	n/a
45	BCLAF1	chr7:116570564-116570909	GM12878	blood:	n/a	n/a
46	BHLHE40	chr7:116590081-116590461	K562	blood:	n/a	n/a
47	BHLHE40	chr7:116592895-116593825	HepG2	liver:	n/a	n/a
48	BHLHE40	chr7:116570494-116570879	K562	blood:	n/a	n/a
49	BHLHE40	chr7:116591101-116592380	K562	blood:	n/a	n/a
50	BHLHE40	chr7:116595042-116596531	GM12878	blood:	n/a	n/a

(count:1713 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:116592959-116593009	MCF10A-Er-Src	breast:	n/a
2	chr7:116593656-116593706	A549	lung:	n/a
3	chr7:116592959-116593009	GM19239	blood:	n/a
4	chr7:116593767-116593817	AoSMC	blood vessel:	n/a
5	chr7:116593769-116593819	Hepatocyte	liver:	n/a
6	chr7:116592959-116593009	MCF10A-Er-Src	breast:	n/a
7	chr7:116593656-116593706	A549	lung:	n/a
8	chr7:116592959-116593009	GM19239	blood:	n/a
9	chr7:116593767-116593817	AoSMC	blood vessel:	n/a
10	chr7:116593769-116593819	Hepatocyte	liver:	n/a
11	chr7:116593353-116593403	PFSK-1	brain:	n/a
12	chr7:116592968-116593018	A549	lung:	n/a
13	chr7:116593769-116593819	HRCEpiC	kidney:	n/a
14	chr7:116592968-116593018	AG09309	skin:	n/a
15	chr7:116594557-116594607	H1-hESC	embryonic stem cell:	embryo
16	chr7:116593336-116593386	U87	brain:	n/a
17	chr7:116593586-116593636	Jurkat	blood:	n/a
18	chr7:116594207-116594257	HEEpiC	esophagus:	n/a
19	chr7:116590242-116590292	HepG2	liver:	n/a
20	chr7:116594536-116594586	HRPEpiC	eye:	n/a
21	chr7:116590242-116590292	HUVEC	blood vessel:	n/a
22	chr7:116594536-116594586	HCPEpiC	choroid plexus:	n/a
23	chr7:116593586-116593636	H1-hESC	embryonic stem cell:	embryo
24	chr7:116593113-116593163	NB4	blood:	n/a
25	chr7:116594207-116594257	HRE	kidney:	n/a
26	chr7:116593272-116593322	HPAEpiC	pulmonary alveolar:	n/a
27	chr7:116593769-116593819	AG09319	gingival:	n/a
28	chr7:116593113-116593163	HCPEpiC	choroid plexus:	n/a
29	chr7:116597218-116597268	PrEC	prostate:	n/a
30	chr7:116594557-116594607	Jurkat	blood:	n/a
31	chr7:116592959-116593009	PrEC	prostate:	n/a
32	chr7:116592959-116593009	SKMC	muscle:	n/a
33	chr7:116595196-116595246	Jurkat	blood:	n/a
34	chr7:116593586-116593636	NH-A	brain:	n/a
35	chr7:116593336-116593386	BJ	skin:	n/a
36	chr7:116592959-116593009	ProgFib	skin:	n/a
37	chr7:116593359-116593409	AoSMC	blood vessel:	n/a
38	chr7:116593336-116593386	HCF	heart:	n/a
39	chr7:116594421-116594471	Hela-S3	cervix:	n/a
40	chr7:116593772-116593822	SK-N-MC	brain:	n/a
41	chr7:116594421-116594471	RPTEC	kidney:	n/a
42	chr7:116594421-116594471	Hepatocyte	liver:	n/a
43	chr7:116592968-116593018	CMK	blood:	n/a
44	chr7:116594430-116594480	RPTEC	kidney:	n/a
45	chr7:116557960-116558010	A549	lung:	n/a
46	chr7:116593113-116593163	PrEC	prostate:	n/a
47	chr7:116593769-116593819	BJ	skin:	n/a
48	chr7:116593767-116593817	AG10803	skin:	n/a
49	chr7:116593353-116593403	HNPCEpiC	eye:	n/a
50	chr7:116593656-116593706	HepG2	liver:	n/a

(count:140 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:116517701..116519651-chr7:116609886..116612746,2	K562	blood:
2	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
3	chr7:116575973..116578063-chr7:116589463..116591221,2	MCF-7	breast:
4	7:116604327-116608063..7:116827014-116829381	GM12878	blood:
5	chr7:116602049..116604821-chr7:116607267..116608809,2	MCF-7	breast:
6	chr7:116569534..116572103-chr7:116572304..116574237,2	K562	blood:
7	7:116568602-116574330..7:116754962-116765597	GM12878	blood:
8	chr7:116574333..116578952-chr7:116589520..116595571,10	K562	blood:
9	chr7:116501669..116504720-chr7:116591889..116594956,5	K562	blood:
10	chr7:116601473..116604004-chr7:116608166..116610648,2	K562	blood:
11	chr7:116576604..116578534-chr7:116582533..116584180,2	K562	blood:
12	7:116599334-116604327..7:116754962-116765597	GM12878	blood:
13	chr16:24740656..24741578-chr7:116593739..116594602,2	HCT-116	colon:
14	chr7:116563032..116565216-chr7:116567059..116570510,3	K562	blood:
15	7:115847372-115857098..7:116559477-116562887	GM12878	blood:
16	7:116580605-116585719..7:117100350-117112126	H1-hESC	embryonic stem cell:	embryo
17	7:115890993-115892266..7:116585719-116587657	H1-hESC	embryonic stem cell:	embryo
18	chr7:116502166..116506934-chr7:116591377..116594260,5	MCF-7	breast:
19	chr7:116571244..116573563-chr7:116761792..116763514,2	MCF-7	breast:
20	chr7:116570164..116571206-chr7:116758946..116760107,5	MCF-7	breast:
21	chr20:44563045..44563910-chr7:116593002..116593597,2	Hela-S3	cervix:
22	chr7:116607594..116610667-chr7:116617183..116619569,3	MCF-7	breast:
23	chr2:27008803..27009449-chr7:116593574..116594250,2	Hela-S3	cervix:
24	chr7:116589933..116591821-chr7:116618014..116619931,2	K562	blood:
25	chr7:116575973..116578063-chr7:116589463..116591221,2	MCF-7	breast:
26	chr7:116570829..116573211-chr7:116585844..116587737,2	MCF-7	breast:
27	7:116580605-116585719..7:116754962-116765597	GM12878	blood:
28	chr7:116570194..116571338-chr7:116767371..116768123,3	MCF-7	breast:
29	chr7:116594827..116596467-chr7:116758252..116760818,2	K562	blood:
30	7:115890993-115892266..7:116559477-116562887	H1-hESC	embryonic stem cell:	embryo
31	7:115861595-115870968..7:116580605-116585719	Hela-S3	cervix:
32	chr7:116558517..116560603-chr7:116609318..116611727,2	K562	blood:
33	chr7:116555853..116558768-chr7:116563392..116564954,2	MCF-7	breast:
34	chr7:116551278..116554043-chr7:116558237..116559780,2	K562	blood:
35	chr7:116590784..116596766-chr7:116599392..116609813,21	MCF-7	breast:
36	7:116604327-116608063..7:116782481-116788433	GM12878	blood:
37	chr7:116570123..116571416-chr7:116767082..116768498,17	K562	blood:
38	chr7:116564585..116567265-chr7:116593212..116595945,2	K562	blood:
39	chr7:116576604..116580382-chr7:116582371..116584805,5	K562	blood:
40	chr7:116608803..116612859-chr7:116615821..116619025,5	K562	blood:
41	chr7:116578903..116581740-chr7:116586213..116588170,2	K562	blood:
42	chr7:111201180..111203639-chr7:116596222..116597858,2	MCF-7	breast:
43	chr7:116548558..116551081-chr7:116553120..116555423,2	MCF-7	breast:
44	chr7:116570829..116573211-chr7:116585844..116587737,2	MCF-7	breast:
45	chr7:116591613..116593469-chr7:116756690..116759976,4	K562	blood:
46	chr7:116592302..116594663-chr7:116658883..116661789,2	MCF-7	breast:
47	chr7:116570499..116571103-chr7:116652412..116652980,2	MCF-7	breast:
48	chr7:116569687..116574376-chr7:116579850..116586721,6	K562	blood:
49	chr7:116546291..116549197-chr7:116550782..116553572,2	K562	blood:
50	7:115847372-115857098..7:116580605-116585719	K562	blood:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CAPZA2-2	chr7:116593953-116594163	NR_002329
2	lnc-CAPZA2-1	chr7:116570565-116570828	FPKM1_group_30214_transcript_1
3	lnc-CAPZA2-2	chr7:116594674-116594733	NONHSAT122918
4	lnc-CAPZA2-2	chr7:116594515-116594733	NR_002329
5	lnc-CAPZA2-2	chr7:116608453-116608628	NONHSAT122916
6	lnc-CAPZA2-2	chr7:116594517-116594733	NONHSAT122917
7	lnc-CAPZA2-2	chr7:116595028-116595207	NR_002329
8	lnc-CAPZA2-2	chr7:116608453-116608628	NONHSAT122918
9	lnc-ST7-3	chr7:116555510-116556176	NONHSAT122912
10	lnc-AC106873.4.1-1	chr7:116592671-116593291	NONHSAT122915
11	lnc-CAPZA2-2	chr7:116595028-116595207	NONHSAT122917
12	lnc-ST7-3	chr7:116557781-116557814	NONHSAT122912
13	lnc-CAPZA2-2	chr7:116596477-116596777	NR_002329
14	lnc-CAPZA2-2	chr7:116594293-116594733	NONHSAT122916
15	lnc-CAPZA2-2	chr7:116595028-116595207	NONHSAT122918
16	lnc-CAPZA2-2	chr7:116599207-116599867	NR_002329
17	lnc-CAPZA2-2	chr7:116595028-116595207	NONHSAT122916
18	lnc-CAPZA2-2	chr7:116598643-116598739	NONHSAT122916

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CAPZA2	hsa-miR-103a-3p	chr7:116558356-116558362
2	CAPZA2	hsa-miR-103a-3p	chr7:116558344-116558363
3	CAPZA2	hsa-miR-16-5p	chr7:116558357-116558364
4	CAPZA2	hsa-miR-16-5p	chr7:116558343-116558364

Variant related genes	Relation type
ST7-AS1	TF binding region
ST7-OT4	TF binding region
ENSG00000228368	TF binding region
ENSG00000252115	TF binding region
ST7	TF binding region
CAPZA2	TF binding region
RNA5SP239	TF binding region
ST7-AS1	CpG island
ST7-OT4	CpG island
ENSG00000228368	CpG island
ENSG00000252115	CpG island
ST7	CpG island
CAPZA2	CpG island
RNA5SP239	CpG island
ENSG00000090905	chromatin interactions
ENSG00000109929	chromatin interactions
ENSG00000105989	chromatin interactions
ENSG00000228368	chromatin interactions
ENSG00000053501	chromatin interactions
ENSG00000122566	chromatin interactions
ENSG00000124541	chromatin interactions
ENSG00000235945	chromatin interactions
ENSG00000226367	chromatin interactions
ENSG00000227532	chromatin interactions
ENSG00000222150	chromatin interactions
ENSG00000242622	chromatin interactions
ENSG00000115163	chromatin interactions
ENSG00000184967	chromatin interactions
ENSG00000252115	chromatin interactions
ENSG00000178188	chromatin interactions
ENSG00000213050	chromatin interactions
ENSG00000100982	chromatin interactions
ENSG00000184903	chromatin interactions
ENSG00000227199	chromatin interactions
ENSG00000214188	chromatin interactions
ENSG00000004866	chromatin interactions
ENSG00000198898	chromatin interactions
ENSG00000135269	chromatin interactions
ENSG00000185163	chromatin interactions
ENSG00000001626	chromatin interactions
ENSG00000078140	chromatin interactions
ENSG00000132471	chromatin interactions
ENSG00000172493	chromatin interactions

Extended variants
information (count: 1957 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1957 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2214168	chr7:116552859-116552860	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182952625	chr7:116552885-116552886	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs533067123	chr7:116552988-116552989	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs138615430	chr7:116552990-116552991	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs559760906	chr7:116553007-116553008	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs371781868	chr7:116553048-116553049	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs371056723	chr7:116553053-116553054	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs77968055	chr7:116553074-116553075	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs564713751	chr7:116553078-116553079	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs532009825	chr7:116553109-116553110	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs550241224	chr7:116553112-116553113	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs568750679	chr7:116553140-116553141	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs140328740	chr7:116553148-116553149	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs547397612	chr7:116553247-116553248	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs565827667	chr7:116553346-116553347	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187468132	chr7:116553392-116553393	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs371756021	chr7:116553424-116553425	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs192870581	chr7:116553437-116553438	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs576194102	chr7:116553463-116553464	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs537270211	chr7:116553479-116553480	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs555347655	chr7:116553550-116553551	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573884919	chr7:116553586-116553587	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150355040	chr7:116553608-116553609	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs7790214	chr7:116553625-116553626	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs185041183	chr7:116553662-116553663	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577806669	chr7:116553732-116553733	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs138067225	chr7:116553734-116553735	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564686299	chr7:116553787-116553788	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs201188214	chr7:116553803-116553804	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs544015647	chr7:116553804-116553805	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141262697	chr7:116553822-116553823	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs10717939	chr7:116553848-116553849	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562196020	chr7:116553860-116553861	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187967057	chr7:116553974-116553975	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547385179	chr7:116553984-116553985	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs565766144	chr7:116554003-116554004	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551750372	chr7:116554012-116554013	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533237118	chr7:116554031-116554032	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs369468282	chr7:116554037-116554038	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs565165317	chr7:116554067-116554068	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs551430309	chr7:116554068-116554069	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs570156470	chr7:116554070-116554071	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs71148344	chr7:116554099-116554100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370866117	chr7:116554100-116554101	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs372030234	chr7:116554112-116554113	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536800560	chr7:116554118-116554119	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs546901135	chr7:116554123-116554124	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs555548531	chr7:116554142-116554143	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs57306818	chr7:116554146-116554147	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs536726221	chr7:116554183-116554184	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Squamous cell cancer	20885788	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Glioblastoma multiforme	21922591	CNVD
Sudden cardiac death	19188705	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	21569311	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1392 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:116503800-116554400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:116506000-116554600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:116511400-116554600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr7:116515400-116559200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:116517200-116554600	Weak transcription	Esophagus	oesophagus
6	chr7:116517600-116556600	Weak transcription	Psoas Muscle	Psoas
7	chr7:116525800-116554600	Weak transcription	Aorta	Aorta
8	chr7:116525800-116558400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:116525800-116559400	Weak transcription	Colonic Mucosa	Colon
10	chr7:116526600-116553600	Weak transcription	Right Ventricle	heart
11	chr7:116526800-116554600	Weak transcription	Gastric	stomach
12	chr7:116526800-116559400	Weak transcription	Stomach Mucosa	stomach
13	chr7:116527000-116560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr7:116532000-116559600	Strong transcription	HSMM	muscle
15	chr7:116538000-116559600	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:116538200-116562400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:116538600-116554200	Weak transcription	Spleen	Spleen
18	chr7:116538600-116559400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:116539400-116555000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:116540400-116559800	Strong transcription	Fetal Thymus	thymus
21	chr7:116543000-116559000	Strong transcription	HUVEC	blood vessel
22	chr7:116543000-116560800	Strong transcription	Primary B cells from peripheral blood	blood
23	chr7:116543200-116559600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:116543200-116559600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr7:116543200-116562400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:116543400-116553400	Strong transcription	Primary B cells from cord blood	blood
27	chr7:116543600-116553000	Strong transcription	Primary T cells from cord blood	blood
28	chr7:116543600-116559200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:116543800-116561400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:116544000-116568600	Weak transcription	Fetal Brain Male	brain
31	chr7:116544200-116558600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr7:116544400-116570600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr7:116545600-116554600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:116546000-116556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr7:116546200-116559600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr7:116546200-116560600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr7:116546400-116559600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:116546400-116559600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:116546600-116559200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:116548000-116553000	Strong transcription	Fetal Lung	lung
41	chr7:116548400-116553600	Weak transcription	Fetal Intestine Small	intestine
42	chr7:116549000-116555400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:116549200-116559200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr7:116549800-116553800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:116549800-116553800	Strong transcription	A549	lung
46	chr7:116549800-116558200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr7:116549800-116558400	Strong transcription	HepG2	liver
48	chr7:116549800-116559000	Strong transcription	Placenta	Placenta
49	chr7:116549800-116559000	Strong transcription	Dnd41	blood
50	chr7:116549800-116559000	Strong transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links