Variant report

Variant	nsv1035477
Chromosome Location	chr9:71511927-71959487
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7592)
CpG islands
(count:3785)
Chromatin interactive
region (count:341)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:7592 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:71795383-71796025	K562	blood:	n/a	n/a
2	ARID3A	chr9:71634748-71635103	K562	blood:	n/a	n/a
3	ARID3A	chr9:71785228-71785657	K562	blood:	n/a	n/a
4	ARID3A	chr9:71820008-71820023	K562	blood:	n/a	n/a
5	ARID3A	chr9:71650526-71650743	K562	blood:	n/a	n/a
6	ARID3A	chr9:71735292-71735927	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:71793431-71794296	HepG2	liver:	n/a	n/a
8	ARID3A	chr9:71642563-71642873	K562	blood:	n/a	n/a
9	ARID3A	chr9:71584464-71585376	K562	blood:	n/a	n/a
10	ARID3A	chr9:71614594-71614886	HepG2	liver:	n/a	n/a
11	ARID3A	chr9:71822394-71822631	K562	blood:	n/a	n/a
12	ARID3A	chr9:71808074-71808402	HepG2	liver:	n/a	n/a
13	ARID3A	chr9:71805069-71805695	HepG2	liver:	n/a	chr9:71805429-71805445 chr9:71805430-71805446
14	ARID3A	chr9:71631852-71631872	K562	blood:	n/a	n/a
15	ARID3A	chr9:71598080-71598400	K562	blood:	n/a	n/a
16	ARID3A	chr9:71801237-71801527	K562	blood:	n/a	n/a
17	ARID3A	chr9:71787032-71787270	HepG2	liver:	n/a	n/a
18	ARID3A	chr9:71635426-71635919	K562	blood:	n/a	n/a
19	ARID3A	chr9:71795418-71795995	HepG2	liver:	n/a	n/a
20	ARID3A	chr9:71800451-71800521	K562	blood:	n/a	n/a
21	ARID3A	chr9:71821041-71821305	K562	blood:	n/a	n/a
22	ARID3A	chr9:71701730-71702036	HepG2	liver:	n/a	n/a
23	ARID3A	chr9:71542080-71542315	K562	blood:	n/a	n/a
24	ARID3A	chr9:71819420-71819690	K562	blood:	n/a	n/a
25	ARID3A	chr9:71801110-71801635	HepG2	liver:	n/a	n/a
26	ARID3A	chr9:71651502-71651839	K562	blood:	n/a	n/a
27	ARID3A	chr9:71830850-71831360	K562	blood:	n/a	n/a
28	ARID3A	chr9:71576402-71576900	K562	blood:	n/a	n/a
29	ARID3A	chr9:71808137-71808737	K562	blood:	n/a	n/a
30	ARID3A	chr9:71802085-71802622	K562	blood:	n/a	n/a
31	ARID3A	chr9:71584469-71584970	HepG2	liver:	n/a	n/a
32	ARID3A	chr9:71768528-71769284	HepG2	liver:	n/a	n/a
33	ARID3A	chr9:71719221-71720293	HepG2	liver:	n/a	chr9:71719768-71719784 chr9:71719315-71719331
34	ARID3A	chr9:71650444-71651128	HepG2	liver:	n/a	n/a
35	ARID3A	chr9:71746529-71747015	HepG2	liver:	n/a	n/a
36	ARID3A	chr9:71788981-71788988	K562	blood:	n/a	n/a
37	ARID3A	chr9:71783969-71784100	HepG2	liver:	n/a	n/a
38	ARID3A	chr9:71785862-71786328	K562	blood:	n/a	n/a
39	ARID3A	chr9:71803674-71804222	K562	blood:	n/a	n/a
40	ATF1	chr9:71635543-71635967	K562	blood:	n/a	n/a
41	ATF1	chr9:71613777-71614153	K562	blood:	n/a	n/a
42	ATF1	chr9:71802159-71802633	K562	blood:	n/a	n/a
43	ATF1	chr9:71795567-71795986	K562	blood:	n/a	n/a
44	ATF1	chr9:71542195-71542403	K562	blood:	n/a	n/a
45	ATF1	chr9:71803941-71804270	K562	blood:	n/a	n/a
46	ATF1	chr9:71642591-71642873	K562	blood:	n/a	n/a
47	ATF1	chr9:71598096-71598406	K562	blood:	n/a	n/a
48	ATF1	chr9:71584518-71584727	K562	blood:	n/a	n/a
49	ATF1	chr9:71830870-71831226	K562	blood:	n/a	n/a
50	ATF1	chr9:71785927-71786382	K562	blood:	n/a	n/a

(count:3785 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71736854-71736904	HRCEpiC	kidney:	n/a
2	chr9:71802071-71802121	HNPCEpiC	eye:	n/a
3	chr9:71863159-71863209	H1-hESC	embryonic stem cell:	embryo
4	chr9:71736854-71736904	HRCEpiC	kidney:	n/a
5	chr9:71802071-71802121	HNPCEpiC	eye:	n/a
6	chr9:71863159-71863209	H1-hESC	embryonic stem cell:	embryo
7	chr9:71923415-71923465	AG09319	gingival:	n/a
8	chr9:71651331-71651381	HMEC	breast:	n/a
9	chr9:71787160-71787210	Jurkat	blood:	n/a
10	chr9:71939182-71939232	HRCEpiC	kidney:	n/a
11	chr9:71627524-71627574	HAEpiC	amniotic membrane:	n/a
12	chr9:71737258-71737308	U87	brain:	n/a
13	chr9:71736409-71736459	CMK	blood:	n/a
14	chr9:71939349-71939399	BJ	skin:	n/a
15	chr9:71589563-71589613	HepG2	liver:	n/a
16	chr9:71789653-71789703	HAEpiC	amniotic membrane:	n/a
17	chr9:71834813-71834863	AG04449	skin:	fetal
18	chr9:71735666-71735716	HIPEpiC	eye:	n/a
19	chr9:71836408-71836458	HCM	heart:	n/a
20	chr9:71650719-71650769	HCT-116	colon:	n/a
21	chr9:71789541-71789591	HUVEC	blood vessel:	n/a
22	chr9:71939182-71939232	PANC-1	pancreas:	n/a
23	chr9:71947038-71947088	HepG2	liver:	n/a
24	chr9:71651331-71651381	NHBE	bronchial:	n/a
25	chr9:71649195-71649245	SAEC	small airway:	n/a
26	chr9:71629130-71629180	MCF10A-Er-Src	breast:	n/a
27	chr9:71732345-71732395	AG10803	skin:	n/a
28	chr9:71654823-71654873	HEK293	kidney:	embryo
29	chr9:71792936-71792986	AG04449	skin:	fetal
30	chr9:71685390-71685440	HCT-116	colon:	n/a
31	chr9:71651175-71651225	AG09319	gingival:	n/a
32	chr9:71819910-71819960	BJ	skin:	n/a
33	chr9:71650331-71650381	BJ	skin:	n/a
34	chr9:71651331-71651381	ovcar-3	ovarian:	n/a
35	chr9:71629130-71629180	Caco-2	colon:	n/a
36	chr9:71650719-71650769	H1-hESC	embryonic stem cell:	embryo
37	chr9:71623401-71623451	GM12892	blood:	n/a
38	chr9:71787000-71787050	AoSMC	blood vessel:	n/a
39	chr9:71651331-71651381	Hela-S3	cervix:	n/a
40	chr9:71654823-71654873	Hela-S3	cervix:	n/a
41	chr9:71589563-71589613	RPTEC	kidney:	n/a
42	chr9:71651331-71651381	HUVEC	blood vessel:	n/a
43	chr9:71589563-71589613	HNPCEpiC	eye:	n/a
44	chr9:71802071-71802121	PrEC	prostate:	n/a
45	chr9:71654823-71654873	IMR90	lung:	fetal
46	chr9:71785587-71785637	HIPEpiC	eye:	n/a
47	chr9:71732345-71732395	Hepatocyte	liver:	n/a
48	chr9:71691305-71691355	AG04450	lung:	fetal
49	chr9:71649195-71649245	NB4	blood:	n/a
50	chr9:71947038-71947088	HIPEpiC	eye:	n/a

(count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr9:71907874..71908421-chr9:71999104..71999650,2	MCF-7	breast:
2	chr9:71826504..71828292-chr9:71833084..71835143,2	K562	blood:
3	chr9:71751405..71753557-chr9:71754610..71757893,3	MCF-7	breast:
4	chr9:71649801..71651906-chr9:71729690..71731454,2	MCF-7	breast:
5	chr9:71761121..71762822-chr9:71762920..71764542,2	K562	blood:
6	chr9:71863242..71865900-chr9:71875148..71877546,2	K562	blood:
7	chr9:71940098..71942516-chr9:71992469..71994657,3	MCF-7	breast:
8	chr9:71704193..71706680-chr9:71707400..71709954,2	K562	blood:
9	chr9:71568914..71571612-chr9:71576098..71578241,2	K562	blood:
10	chr9:71680609..71683537-chr9:71732525..71735089,2	MCF-7	breast:
11	chr9:71806704..71808402-chr9:71829211..71831372,2	K562	blood:
12	chr9:71573438..71576022-chr9:71576543..71579524,3	K562	blood:
13	chr9:71621939..71625091-chr9:71631557..71634181,3	K562	blood:
14	chr9:71681954..71683717-chr9:71735663..71737181,2	MCF-7	breast:
15	chr9:71614613..71617089-chr9:71618925..71621633,2	K562	blood:
16	chr9:71768851..71770406-chr9:71807672..71810117,2	MCF-7	breast:
17	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
18	chr9:71770660..71772249-chr9:71774354..71777333,2	MCF-7	breast:
19	chr9:71733939..71735989-chr9:71814942..71816605,2	MCF-7	breast:
20	chr9:71788912..71791294-chr9:71803857..71806378,3	MCF-7	breast:
21	chr9:71704008..71706268-chr9:71714594..71717470,2	MCF-7	breast:
22	chr9:71612099..71614210-chr9:71616099..71618792,2	MCF-7	breast:
23	chr9:71939962..71941547-chr9:71947725..71950010,2	MCF-7	breast:
24	chr9:71850777..71853807-chr9:71854436..71856252,3	K562	blood:
25	chr9:71576569..71578561-chr9:71582492..71584226,2	MCF-7	breast:
26	chr9:71794571..71798394-chr9:71798897..71802534,4	K562	blood:
27	chr9:71938980..71942989-chr9:71948719..71952041,5	MCF-7	breast:
28	chr9:71812890..71815440-chr9:71822433..71824150,2	MCF-7	breast:
29	chr9:71720466..71722349-chr9:71729146..71730891,2	MCF-7	breast:
30	chr9:71720044..71724145-chr9:71733178..71738087,7	MCF-7	breast:
31	chr9:71826504..71828292-chr9:71833084..71835143,2	K562	blood:
32	chr9:71850777..71853807-chr9:71854436..71856252,3	K562	blood:
33	chr9:71790152..71792261-chr9:71797735..71799818,2	MCF-7	breast:
34	chr9:71601422..71604412-chr9:71607352..71608900,2	MCF-7	breast:
35	chr9:71674276..71676864-chr9:71678272..71680734,2	MCF-7	breast:
36	chr9:71393142..71395397-chr9:71613352..71615098,2	K562	blood:
37	chr9:71598980..71601285-chr9:71602200..71604374,2	K562	blood:
38	chr9:71814337..71816203-chr9:71818025..71821433,3	MCF-7	breast:
39	chr9:71887365..71889715-chr9:71890239..71892748,2	K562	blood:
40	chr9:71768614..71770999-chr9:71773509..71775018,2	K562	blood:
41	chr1:149223425..149225310-chr9:71736139..71738412,2	MCF-7	breast:
42	chr9:71793727..71795446-chr9:71807376..71809123,2	MCF-7	breast:
43	chr9:71774601..71776858-chr9:71777097..71779223,2	K562	blood:
44	chr9:71509323..71512196-chr9:71514082..71515973,2	K562	blood:
45	chr9:71734142..71739001-chr9:71788032..71795507,11	MCF-7	breast:
46	chr9:71745818..71747384-chr9:71762840..71764725,2	K562	blood:
47	chr9:71634711..71636591-chr9:71649540..71651584,2	MCF-7	breast:
48	chr9:71619036..71621267-chr9:71649234..71651665,2	K562	blood:
49	chr9:71782838..71785289-chr9:71817558..71819101,2	MCF-7	breast:
50	chr9:71199440..71199949-chr9:71642261..71643160,3	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-5	chr9:71957870-71958977	ucscGeneNc_uc004aho_1
2	lnc-APBA1-3	chr9:71911594-71911783	XLOC_007724
3	lnc-APBA1-3	chr9:71921770-71921972	NR_047671
4	lnc-APBA1-3	chr9:71921770-71922016	XLOC_007724
5	lnc-PRKACG-1	chr9:71590580-71590757	ENSG00000249652
6	lnc-APBA1-3	chr9:71919852-71919993	XLOC_007724
7	lnc-PRKACG-4	chr9:71625289-71625403	ucscGeneNc_uc004ahk_2
8	lnc-PRKACG-2	chr9:71780235-71782388	ENSG00000250944
9	lnc-PRKACG-4	chr9:71624143-71625000	ucscGeneNc_uc004ahk_2
10	lnc-APBA1-3	chr9:71921064-71921206	NR_047671
11	lnc-APBA1-3	chr9:71921770-71922009	XLOC_007724
12	lnc-PRKACG-1	chr9:71568004-71569861	ENSG00000249652
13	lnc-APBA1-3	chr9:71921064-71921206	XLOC_007724
14	lnc-TJP2-1	chr9:71736400-71737148	ENSG00000227410.1
15	lnc-APBA1-3	chr9:71919852-71919993	XLOC_007724
16	lnc-APBA1-3	chr9:71919852-71919993	NR_047671
17	lnc-APBA1-3	chr9:71911597-71911783	NR_047671
18	lnc-PRKACG-1	chr9:71590580-71590735	NONHSAT131759
19	lnc-TJP2-1	chr9:71736209-71736281	ENSG00000227410.1
20	lnc-PRKACG-2	chr9:71785572-71785971	ENSG00000250944
21	lnc-PRKACG-1	chr9:71570856-71572127	NONHSAT131759
22	lnc-PRKACG-5	chr9:71563250-71563521	expReg_chr9_3063_-
23	lnc-APBA1-6	chr9:71855143-71855736	NONHSAT131773
24	lnc-APBA1-3	chr9:71911599-71911783	XLOC_007724
25	lnc-PRKACG-1	chr9:71571942-71572127	ENSG00000249652

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	TJP2	hsa-miR-203a	chr9:71863586-71863605
2	TJP2	hsa-miR-193b-3p	chr9:71869241-71869262
3	TJP2	hsa-miR-124-3p	chr9:71869744-71869750
4	TJP2	hsa-miR-124-3p	chr9:71869732-71869751

Variant related genes	Relation type
FAM189A2	TF binding region
ENSG00000269295	TF binding region
PRKACG	TF binding region
TJP2	TF binding region
FXN	TF binding region
ENSG00000270236	TF binding region
RNU6-820P	TF binding region
FAM189A2	CpG island
ENSG00000269295	CpG island
PRKACG	CpG island
TJP2	CpG island
FXN	CpG island
ENSG00000270236	CpG island
RNU6-820P	CpG island
ENSG00000126216	chromatin interactions
ENSG00000165060	chromatin interactions
ENSG00000163812	chromatin interactions
ENSG00000272434	chromatin interactions
ENSG00000119139	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000136159	chromatin interactions
ENSG00000132849	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000165059	chromatin interactions
ENSG00000270236	chromatin interactions
ENSG00000254995	chromatin interactions
ENSG00000001167	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000124222	chromatin interactions
ENSG00000187866	chromatin interactions
ENSG00000075914	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000135063	chromatin interactions
APITD1	miRNA target sites
NFIB	miRNA target sites
SMAD7	miRNA target sites
FLOT1	miRNA target sites
TRIP12	miRNA target sites

Extended variants
information (count: 17137 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:17137 , 50 per page) page: 1 2 3 4 5 6 7 ... 343

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552100320	chr9:71511952-71511953	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184080047	chr9:71511972-71511973	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372990721	chr9:71512022-71512023	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558585229	chr9:71512069-71512070	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187330754	chr9:71512085-71512086	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147517425	chr9:71512111-71512112	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs566015534	chr9:71512239-71512240	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545030622	chr9:71512253-71512254	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140065925	chr9:71512269-71512270	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554623233	chr9:71512272-71512273	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11144178	chr9:71512303-71512304	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs377738713	chr9:71512319-71512320	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537735840	chr9:71512383-71512384	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191377539	chr9:71512384-71512385	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577496105	chr9:71512391-71512392	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541604173	chr9:71512448-71512449	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553552102	chr9:71512461-71512462	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142570614	chr9:71512470-71512471	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375937405	chr9:71512514-71512515	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541949871	chr9:71512581-71512582	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150528188	chr9:71512609-71512610	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs6560420	chr9:71512668-71512669	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs112495083	chr9:71512701-71512702	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs562342663	chr9:71512706-71512707	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs184506221	chr9:71512718-71512719	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs564008406	chr9:71512797-71512798	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs12553327	chr9:71512824-71512825	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs7043242	chr9:71512827-71512828	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs139463561	chr9:71512917-71512918	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs12553357	chr9:71512989-71512990	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs527469501	chr9:71513024-71513025	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548708994	chr9:71513090-71513091	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531993029	chr9:71513101-71513102	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11144181	chr9:71513236-71513237	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10781257	chr9:71513268-71513269	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs7043868	chr9:71513300-71513301	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs149655190	chr9:71513305-71513306	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146665742	chr9:71513311-71513312	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140438174	chr9:71513361-71513362	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575025206	chr9:71513424-71513425	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541540175	chr9:71513450-71513451	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557054591	chr9:71513459-71513460	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550244531	chr9:71513460-71513461	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569927053	chr9:71513462-71513463	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575013383	chr9:71513480-71513481	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539157344	chr9:71513481-71513482	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201607118	chr9:71513528-71513529	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs545368017	chr9:71513532-71513533	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs563744451	chr9:71513533-71513534	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528326587	chr9:71513570-71513571	Enhancers Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10219 , 50 per page) page: 1 2 3 4 5 6 7 ... 205

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71459000-71519200	Weak transcription	Colonic Mucosa	Colon
2	chr9:71460800-71517000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr9:71492400-71515000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:71496600-71515200	Weak transcription	HepG2	liver
5	chr9:71500200-71512000	Weak transcription	Placenta	Placenta
6	chr9:71502600-71516600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr9:71505400-71512000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:71508800-71512600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr9:71508800-71515200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:71509000-71512200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr9:71509200-71512000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr9:71509200-71514600	Enhancers	Fetal Heart	heart
13	chr9:71509600-71512800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:71509600-71513000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr9:71509800-71512200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:71509800-71512200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr9:71509800-71514000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr9:71510200-71512200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr9:71510400-71512200	Enhancers	Brain Angular Gyrus	brain
20	chr9:71510400-71513200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:71510400-71513800	Strong transcription	Fetal Intestine Large	intestine
22	chr9:71510400-71513800	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr9:71510400-71514200	Enhancers	Right Ventricle	heart
24	chr9:71510400-71576200	Weak transcription	Stomach Mucosa	stomach
25	chr9:71510600-71512800	Weak transcription	Spleen	Spleen
26	chr9:71510600-71515000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:71510600-71532400	Weak transcription	Small Intestine	intestine
28	chr9:71510800-71512000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr9:71510800-71519800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:71511000-71512400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr9:71511000-71514000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr9:71511000-71514200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:71511200-71512000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:71511200-71512000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr9:71511200-71513400	Weak transcription	Aorta	Aorta
36	chr9:71511200-71513800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr9:71511200-71514200	Enhancers	Fetal Muscle Leg	muscle
38	chr9:71511200-71514400	Enhancers	Right Atrium	heart
39	chr9:71511200-71519200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:71511400-71512000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:71511400-71512000	Enhancers	Primary hematopoietic stem cells	blood
42	chr9:71511400-71512000	Enhancers	Pancreas	Pancrea
43	chr9:71511400-71512200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr9:71511400-71512400	Enhancers	Primary B cells from peripheral blood	blood
45	chr9:71511400-71512400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr9:71511400-71512400	Genic enhancers	Duodenum Mucosa	Duodenum
47	chr9:71511400-71512800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr9:71511400-71513000	Enhancers	Gastric	stomach
49	chr9:71511400-71513800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr9:71511400-71514200	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links