Variant report

Variant	nsv831086
Chromosome Location	chr7:104422503-104596766
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2913)
CpG islands
(count:1281)
Chromatin interactive
region (count:145)
LncRNA
region (count:71)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2913 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:104553335-104553361	K562	blood:	n/a	n/a
2	ARID3A	chr7:104585416-104586104	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:104563373-104563691	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:104488902-104489102	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:104482307-104482460	K562	blood:	n/a	n/a
6	ARID3A	chr7:104524145-104524547	K562	blood:	n/a	chr7:104524300-104524308
7	ARID3A	chr7:104503218-104503486	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:104488947-104489091	K562	blood:	n/a	n/a
9	ARID3A	chr7:104583917-104584590	HepG2	liver:	n/a	n/a
10	ARID3A	chr7:104583852-104584586	K562	blood:	n/a	n/a
11	ARID3A	chr7:104559089-104559333	K562	blood:	n/a	n/a
12	ARID3A	chr7:104540943-104541388	HepG2	liver:	n/a	n/a
13	ARID3A	chr7:104585536-104586039	K562	blood:	n/a	n/a
14	ARID3A	chr7:104563369-104563930	K562	blood:	n/a	n/a
15	ARID3A	chr7:104567143-104567243	HepG2	liver:	n/a	n/a
16	ATF1	chr7:104519111-104519131	K562	blood:	n/a	n/a
17	ATF1	chr7:104573480-104573680	K562	blood:	n/a	n/a
18	ATF1	chr7:104585561-104586027	K562	blood:	n/a	n/a
19	ATF1	chr7:104482256-104482566	K562	blood:	n/a	n/a
20	ATF1	chr7:104563322-104563665	K562	blood:	n/a	n/a
21	ATF1	chr7:104583912-104584577	K562	blood:	n/a	n/a
22	ATF2	chr7:104537440-104538183	GM12878	blood:	n/a	n/a
23	ATF2	chr7:104584601-104585233	GM12878	blood:	n/a	n/a
24	ATF2	chr7:104563234-104563721	GM12878	blood:	n/a	n/a
25	ATF2	chr7:104535301-104536534	GM12878	blood:	n/a	n/a
26	ATF2	chr7:104537341-104538331	GM12878	blood:	n/a	n/a
27	ATF2	chr7:104585311-104586147	GM12878	blood:	n/a	n/a
28	ATF2	chr7:104585593-104586005	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr7:104583802-104584537	GM12878	blood:	n/a	n/a
30	ATF2	chr7:104585368-104586084	GM12878	blood:	n/a	n/a
31	ATF2	chr7:104535346-104536476	GM12878	blood:	n/a	n/a
32	ATF2	chr7:104584599-104585180	GM12878	blood:	n/a	n/a
33	ATF2	chr7:104563282-104563753	GM12878	blood:	n/a	n/a
34	ATF2	chr7:104583911-104584491	GM12878	blood:	n/a	n/a
35	ATF3	chr7:104524177-104524503	K562	blood:	n/a	n/a
36	BACH1	chr7:104524221-104524525	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr7:104448236-104448258	K562	blood:	n/a	n/a
38	BACH1	chr7:104574229-104574236	H1-hESC	embryonic stem cell:	n/a	n/a
39	BACH1	chr7:104583936-104584269	K562	blood:	n/a	n/a
40	BACH1	chr7:104571637-104571639	H1-hESC	embryonic stem cell:	n/a	n/a
41	BATF	chr7:104535367-104536326	GM12878	blood:	n/a	n/a
42	BATF	chr7:104519011-104519305	GM12878	blood:	n/a	chr7:104519143-104519154
43	BATF	chr7:104524148-104524505	GM12878	blood:	n/a	n/a
44	BATF	chr7:104518931-104519359	GM12878	blood:	n/a	chr7:104519143-104519154
45	BATF	chr7:104537374-104537866	GM12878	blood:	n/a	n/a
46	BATF	chr7:104537468-104537819	GM12878	blood:	n/a	n/a
47	BATF	chr7:104592045-104592404	GM12878	blood:	n/a	n/a
48	BATF	chr7:104535769-104536311	GM12878	blood:	n/a	n/a
49	BATF	chr7:104535367-104535753	GM12878	blood:	n/a	n/a
50	BATF	chr7:104585339-104585984	GM12878	blood:	n/a	n/a

(count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:104563370-104563420	HIPEpiC	eye:	n/a
2	chr7:104580930-104580980	AG10803	skin:	n/a
3	chr7:104567372-104567422	HepG2	liver:	n/a
4	chr7:104444707-104444757	HL-60	blood:	n/a
5	chr7:104567372-104567422	BE2_C	brain:	n/a
6	chr7:104581614-104581664	HEEpiC	esophagus:	n/a
7	chr7:104445402-104445452	Hepatocyte	liver:	n/a
8	chr7:104567372-104567422	AG09309	skin:	n/a
9	chr7:104524118-104524168	GM06990	blood:	n/a
10	chr7:104445402-104445452	AG09319	gingival:	n/a
11	chr7:104580693-104580743	BJ	skin:	n/a
12	chr7:104580693-104580743	NT2-D1	testis:	n/a
13	chr7:104523385-104523435	SKMC	muscle:	n/a
14	chr7:104581746-104581796	SKMC	muscle:	n/a
15	chr7:104444687-104444737	AG04450	lung:	fetal
16	chr7:104524118-104524168	Jurkat	blood:	n/a
17	chr7:104581614-104581664	GM06990	blood:	n/a
18	chr7:104444707-104444757	K562	blood:	n/a
19	chr7:104567372-104567422	AG10803	skin:	n/a
20	chr7:104580930-104580980	U87	brain:	n/a
21	chr7:104567372-104567422	GM06990	blood:	n/a
22	chr7:104530865-104530915	GM06990	blood:	n/a
23	chr7:104563370-104563420	HEK293	kidney:	embryo
24	chr7:104580787-104580837	AG04449	skin:	fetal
25	chr7:104445402-104445452	HRPEpiC	eye:	n/a
26	chr7:104581614-104581664	HL-60	blood:	n/a
27	chr7:104524118-104524168	HCT-116	colon:	n/a
28	chr7:104563370-104563420	Hepatocyte	liver:	n/a
29	chr7:104530865-104530915	NH-A	brain:	n/a
30	chr7:104581746-104581796	BE2_C	brain:	n/a
31	chr7:104444707-104444757	HIPEpiC	eye:	n/a
32	chr7:104546755-104546805	NT2-D1	testis:	n/a
33	chr7:104581614-104581664	NB4	blood:	n/a
34	chr7:104523385-104523435	U87	brain:	n/a
35	chr7:104580930-104580980	K562	blood:	n/a
36	chr7:104581746-104581796	SAEC	small airway:	n/a
37	chr7:104445402-104445452	Jurkat	blood:	n/a
38	chr7:104580930-104580980	BJ	skin:	n/a
39	chr7:104568180-104568230	LNCaP	prostate:	n/a
40	chr7:104445585-104445635	ProgFib	skin:	n/a
41	chr7:104530865-104530915	NB4	blood:	n/a
42	chr7:104563370-104563420	PrEC	prostate:	n/a
43	chr7:104580693-104580743	ProgFib	skin:	n/a
44	chr7:104530511-104530561	HCM	heart:	n/a
45	chr7:104567387-104567437	HCF	heart:	n/a
46	chr7:104459130-104459180	HMEC	breast:	n/a
47	chr7:104444707-104444757	HRPEpiC	eye:	n/a
48	chr7:104568180-104568230	BE2_C	brain:	n/a
49	chr7:104580930-104580980	HNPCEpiC	eye:	n/a
50	chr7:104445585-104445635	GM12891	blood:	n/a

(count:145 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr7:104583958..104587024-chr7:104622658..104627290,6	K562	blood:
2	chr7:103871547..103872530-chr7:104558465..104559716,7	K562	blood:
3	chr1:58412051..58412551-chr7:104502877..104503418,2	MCF-7	breast:
4	chr7:104569608..104571154-chr7:104573802..104576090,2	K562	blood:
5	chr7:104523961..104524718-chr7:104546923..104547448,2	MCF-7	breast:
6	chr7:104568710..104570758-chr7:104582213..104584004,2	MCF-7	breast:
7	chr7:103865736..103867349-chr7:104538878..104541224,2	MCF-7	breast:
8	chr7:104524458..104526068-chr7:104657025..104659232,2	K562	blood:
9	chr7:104523873..104524762-chr7:104976177..104976740,2	K562	blood:
10	chr7:104583933..104587644-chr7:104651457..104655963,9	MCF-7	breast:
11	chr7:104545063..104548248-chr7:104548841..104552700,4	MCF-7	breast:
12	chr7:104585526..104588327-chr7:104589037..104591902,3	K562	blood:
13	chr7:104523961..104524718-chr7:104546923..104547448,2	MCF-7	breast:
14	chr7:104563679..104565280-chr7:104568067..104569719,2	K562	blood:
15	chr7:103981713..103982644-chr7:104488433..104489374,3	MCF-7	breast:
16	chr7:104530363..104532505-chr7:104533626..104535586,2	K562	blood:
17	chr7:104421671..104423208-chr7:104427462..104429131,2	K562	blood:
18	chr7:104584293..104587228-chr7:104624517..104626967,3	K562	blood:
19	chr7:104570597..104573173-chr7:104577411..104579738,2	K562	blood:
20	chr7:104592416..104594450-chr7:104601446..104605080,3	K562	blood:
21	chr7:104571846..104574043-chr7:104575811..104577393,2	K562	blood:
22	chr7:104435065..104439363-chr7:104442614..104444965,4	K562	blood:
23	chr7:104571417..104573413-chr7:104580025..104582244,2	K562	blood:
24	chr7:104523544..104525271-chr7:104558660..104559768,6	MCF-7	breast:
25	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
26	chr7:104581966..104590728-chr7:104651510..104656079,18	K562	blood:
27	chr7:104577447..104579593-chr7:104590153..104592409,2	K562	blood:
28	chr7:104568830..104571108-chr7:104573802..104575373,2	K562	blood:
29	chr7:104579927..104586214-chr7:104652770..104656015,9	MCF-7	breast:
30	chr7:104575632..104577873-chr7:104582930..104585448,3	K562	blood:
31	chr7:104559891..104561943-chr7:104563787..104565325,2	K562	blood:
32	chr7:104572713..104579198-chr7:104651179..104657046,8	K562	blood:
33	chr7:103164895..103165412-chr7:104559006..104559639,2	K562	blood:
34	chr7:104581695..104586955-chr7:104650737..104656079,18	K562	blood:
35	chr7:104591428..104594031-chr7:104654268..104656981,2	MCF-7	breast:
36	chr7:104493724..104495592-chr7:104496151..104497714,2	K562	blood:
37	chr7:104585377..104587497-chr7:104613501..104615407,2	K562	blood:
38	chr7:104523347..104526293-chr7:104526937..104529454,4	K562	blood:
39	chr7:104561816..104567252-chr7:104650571..104656074,9	K562	blood:
40	chr7:104583958..104586878-chr7:104622233..104624393,3	K562	blood:
41	chr7:104593671..104595578-chr7:104597334..104600317,2	K562	blood:
42	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
43	chr7:104590688..104592595-chr7:104595872..104597993,2	K562	blood:
44	chr7:104283733..104284709-chr7:104488645..104489537,4	MCF-7	breast:
45	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
46	chr7:104555932..104558453-chr7:104559025..104561540,2	K562	blood:
47	chr7:104532796..104534517-chr7:104535357..104537671,2	K562	blood:
48	chr7:104455637..104457503-chr7:104461736..104463277,2	K562	blood:
49	chr7:104593109..104594815-chr7:104596392..104598019,2	MCF-7	breast:
50	chr7:103847059..103849462-chr7:104487557..104490090,2	MCF-7	breast:

(count:71 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-3	chr7:104559938-104560041	NONHSAT122581
2	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122570
3	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
4	lnc-SRPK2-3	chr7:104560832-104560867	NONHSAT122574
5	lnc-SRPK2-11	chr7:104540132-104540337	expRegAs_chr7_7240_-
6	lnc-SRPK2-3	chr7:104560832-104560872	NONHSAT122579
7	lnc-SRPK2-4	chr7:104444403-104444533	ENSG00000226869.2
8	lnc-MLL5-10	chr7:104442608-104443160	expReg_chr7_7212_+
9	lnc-SRPK2-3	chr7:104566900-104567020	NONHSAT122579
10	lnc-SRPK2-4	chr7:104444403-104444539	NONHSAT122568
11	lnc-SRPK2-3	chr7:104535770-104536256	ucscGeneNc_uc003vcp_1
12	lnc-SRPK2-13	chr7:104538117-104538328	expRegAs_chr7_7231_-
13	lnc-SRPK2-4	chr7:104444403-104444531	ENSG00000226869.2
14	lnc-SRPK2-3	chr7:104566900-104567077	ENSG00000225329
15	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
16	lnc-SRPK2-4	chr7:104439840-104440516	ENSG00000226869.2
17	lnc-MLL5-8	chr7:104456917-104457497	expReg_chr7_7241_+
18	lnc-SRPK2-3	chr7:104566900-104567020	NONHSAT122577
19	lnc-SRPK2-3	chr7:104560832-104560872	ENSG00000225329
20	lnc-SRPK2-4	chr7:104443899-104443986	ENSG00000226869.2
21	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
22	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122570
23	lnc-SRPK2-3	chr7:104574987-104575139	NONHSAT122582
24	lnc-SRPK2-10	chr7:104541189-104541732	predAs_ge08_LOC653086_2
25	lnc-SRPK2-3	chr7:104558007-104558427	ENSG00000225329
26	lnc-SRPK2-3	chr7:104558007-104558427	NONHSAT122574
27	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
28	lnc-SRPK2-3	chr7:104557937-104558427	NONHSAT122580
29	lnc-SRPK2-3	chr7:104557900-104558427	NONHSAT122579
30	lnc-MLL5-9	chr7:104443904-104444763	expReg_chr7_7219_+
31	lnc-SRPK2-4	chr7:104444403-104444554	ENSG00000226869.2
32	lnc-SRPK2-3	chr7:104552347-104552595	NONHSAT122574
33	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
34	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
35	lnc-SRPK2-4	chr7:104439447-104440516	NONHSAT122570
36	lnc-SRPK2-4	chr7:104426965-104427028	ENSG00000226869.2
37	lnc-SRPK2-4	chr7:104443286-104443410	NONHSAT122568
38	lnc-MLL5-7	chr7:104466783-104467243	NONHSAT122572
39	lnc-SRPK2-4	chr7:104438784-104438854	ENSG00000226869.2
40	lnc-SRPK2-4	chr7:104436953-104437396	ENSG00000226869.2
41	lnc-SRPK2-4	chr7:104438225-104441824	l_3463_NR_024586
42	lnc-SRPK2-12	chr7:104539693-104539939	expRegAs_chr7_7237_-
43	lnc-SRPK2-4	chr7:104436963-104437396	ENSG00000226869.2
44	lnc-SRPK2-4	chr7:104440265-104440516	ENSG00000226869.2
45	lnc-SRPK2-3	chr7:104535075-104536511	NONHSAT122573
46	lnc-SRPK2-4	chr7:104443286-104443410	ENSG00000226869.2
47	lnc-SRPK2-4	chr7:104426178-104426232	ENSG00000226869.2
48	lnc-SRPK2-3	chr7:104559924-104560065	NONHSAT122580
49	lnc-SRPK2-3	chr7:104560832-104560872	NONHSAT122581
50	lnc-SRPK2-4	chr7:104444403-104444535	ENSG00000226869.2

No data

Variant related genes	Relation type
ENSG00000237513	TF binding region
RN7SL8P	TF binding region
ENSG00000225329	TF binding region
LHFPL3-AS1	TF binding region
ENSG00000237606	TF binding region
ENSG00000237513	CpG island
RN7SL8P	CpG island
ENSG00000225329	CpG island
LHFPL3-AS1	CpG island
ENSG00000237606	CpG island
ENSG00000239569	chromatin interactions
ENSG00000243352	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000135250	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000226869	chromatin interactions
ENSG00000225329	chromatin interactions
ENSG00000005483	chromatin interactions
ENSG00000228393	chromatin interactions
ENSG00000237513	chromatin interactions
ENSG00000185055	chromatin interactions
ENSG00000164815	chromatin interactions

Extended variants
information (count: 6425 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:6425 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182274209	chr7:104422504-104422505	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75009181	chr7:104422509-104422510	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553612705	chr7:104422542-104422543	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77445827	chr7:104422596-104422597	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373371467	chr7:104422615-104422616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146518977	chr7:104422633-104422634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529158073	chr7:104422642-104422643	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114053567	chr7:104422643-104422644	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550016075	chr7:104422653-104422654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370112194	chr7:104422669-104422670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568506823	chr7:104422677-104422678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186102028	chr7:104422700-104422701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73714122	chr7:104422741-104422742	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs371215437	chr7:104422766-104422767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373750323	chr7:104422775-104422776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571699220	chr7:104422810-104422811	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143422774	chr7:104422848-104422849	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551869520	chr7:104422956-104422957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367867440	chr7:104422970-104422971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574339771	chr7:104423051-104423052	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536965134	chr7:104423055-104423056	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114703880	chr7:104423071-104423072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555365463	chr7:104423081-104423082	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575293607	chr7:104423105-104423106	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192203799	chr7:104423172-104423173	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs151195103	chr7:104423247-104423248	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs577703887	chr7:104423248-104423249	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs540381378	chr7:104423280-104423281	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs559939327	chr7:104423285-104423286	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs529118722	chr7:104423319-104423320	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs376260697	chr7:104423379-104423380	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs562470558	chr7:104423386-104423387	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs531731225	chr7:104423387-104423388	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs551527434	chr7:104423392-104423393	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs115906519	chr7:104423393-104423394	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs77910393	chr7:104423394-104423395	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs544632110	chr7:104423395-104423396	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs140513734	chr7:104423404-104423405	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs567871921	chr7:104423475-104423476	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs551243423	chr7:104423482-104423483	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs74510119	chr7:104423502-104423503	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs556871280	chr7:104423517-104423518	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs576710521	chr7:104423524-104423525	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs537837819	chr7:104423539-104423540	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs183752063	chr7:104423553-104423554	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs577619010	chr7:104423558-104423559	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs35481646	chr7:104423587-104423588	Weak transcription Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs539970386	chr7:104423606-104423607	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547797389	chr7:104423607-104423608	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs75238340	chr7:104423622-104423623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:2010 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104413800-104424000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:104417400-104422600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:104422000-104423000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:104422600-104423600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:104423000-104423200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:104423200-104423600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104423200-104423600	Bivalent Enhancer	Fetal Brain Male	brain
8	chr7:104423600-104423800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:104423600-104426600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:104423800-104430800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:104424000-104424200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr7:104424200-104424400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:104426600-104428200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr7:104428200-104430800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:104430400-104432000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:104430600-104432000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:104430600-104432400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:104430600-104432400	Enhancers	HMEC	breast
19	chr7:104430600-104432800	Enhancers	HUVEC	blood vessel
20	chr7:104430800-104433400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:104430800-104436800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:104431000-104431400	Enhancers	Brain Anterior Caudate	brain
23	chr7:104431000-104432000	Enhancers	Osteobl	bone
24	chr7:104431200-104431800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:104431200-104431800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:104431200-104432000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:104431200-104432000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:104431400-104431800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr7:104431400-104432000	Enhancers	NH-A	brain
30	chr7:104431400-104432400	Enhancers	Brain Germinal Matrix	brain
31	chr7:104431400-104433000	Enhancers	Brain Cingulate Gyrus	brain
32	chr7:104431600-104431800	Enhancers	Brain Substantia Nigra	brain
33	chr7:104431600-104432400	Enhancers	Brain Hippocampus Middle	brain
34	chr7:104431800-104432000	Enhancers	Brain Angular Gyrus	brain
35	chr7:104431800-104434200	Weak transcription	Brain Substantia Nigra	brain
36	chr7:104431800-104434800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:104431800-104436000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:104432000-104433800	Weak transcription	Osteobl	bone
39	chr7:104432000-104434000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:104432000-104434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:104432000-104434600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:104432400-104433800	Weak transcription	HMEC	breast
43	chr7:104432400-104434600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr7:104432800-104433200	Weak transcription	HUVEC	blood vessel
45	chr7:104433000-104434600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:104433200-104433400	Enhancers	HUVEC	blood vessel
47	chr7:104433400-104434600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:104433400-104435200	Weak transcription	HUVEC	blood vessel
49	chr7:104433400-104439600	Weak transcription	Fetal Intestine Small	intestine
50	chr7:104433800-104434000	Enhancers	Osteobl	bone

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