Variant report

Variant	nsv1051723
Chromosome Location	chr9:71398713-71971285
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8354)
CpG islands
(count:3787)
Chromatin interactive
region (count:424)
LncRNA
region (count:30)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:71701730-71702036	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:71795383-71796025	K562	blood:	n/a	n/a
3	ARID3A	chr9:71822394-71822631	K562	blood:	n/a	n/a
4	ARID3A	chr9:71542080-71542315	K562	blood:	n/a	n/a
5	ARID3A	chr9:71820008-71820023	K562	blood:	n/a	n/a
6	ARID3A	chr9:71808074-71808402	HepG2	liver:	n/a	n/a
7	ARID3A	chr9:71460000-71460212	K562	blood:	n/a	n/a
8	ARID3A	chr9:71795418-71795995	HepG2	liver:	n/a	n/a
9	ARID3A	chr9:71801110-71801635	HepG2	liver:	n/a	n/a
10	ARID3A	chr9:71819420-71819690	K562	blood:	n/a	n/a
11	ARID3A	chr9:71800451-71800521	K562	blood:	n/a	n/a
12	ARID3A	chr9:71808137-71808737	K562	blood:	n/a	n/a
13	ARID3A	chr9:71719221-71720293	HepG2	liver:	n/a	chr9:71719768-71719784 chr9:71719315-71719331
14	ARID3A	chr9:71768528-71769284	HepG2	liver:	n/a	n/a
15	ARID3A	chr9:71642563-71642873	K562	blood:	n/a	n/a
16	ARID3A	chr9:71651502-71651839	K562	blood:	n/a	n/a
17	ARID3A	chr9:71431767-71432536	HepG2	liver:	n/a	n/a
18	ARID3A	chr9:71614594-71614886	HepG2	liver:	n/a	n/a
19	ARID3A	chr9:71801237-71801527	K562	blood:	n/a	n/a
20	ARID3A	chr9:71584464-71585376	K562	blood:	n/a	n/a
21	ARID3A	chr9:71787032-71787270	HepG2	liver:	n/a	n/a
22	ARID3A	chr9:71650444-71651128	HepG2	liver:	n/a	n/a
23	ARID3A	chr9:71785228-71785657	K562	blood:	n/a	n/a
24	ARID3A	chr9:71631852-71631872	K562	blood:	n/a	n/a
25	ARID3A	chr9:71635426-71635919	K562	blood:	n/a	n/a
26	ARID3A	chr9:71735292-71735927	HepG2	liver:	n/a	n/a
27	ARID3A	chr9:71803674-71804222	K562	blood:	n/a	n/a
28	ARID3A	chr9:71830850-71831360	K562	blood:	n/a	n/a
29	ARID3A	chr9:71793431-71794296	HepG2	liver:	n/a	n/a
30	ARID3A	chr9:71788981-71788988	K562	blood:	n/a	n/a
31	ARID3A	chr9:71584469-71584970	HepG2	liver:	n/a	n/a
32	ARID3A	chr9:71783969-71784100	HepG2	liver:	n/a	n/a
33	ARID3A	chr9:71598080-71598400	K562	blood:	n/a	n/a
34	ARID3A	chr9:71650526-71650743	K562	blood:	n/a	n/a
35	ARID3A	chr9:71634748-71635103	K562	blood:	n/a	n/a
36	ARID3A	chr9:71746529-71747015	HepG2	liver:	n/a	n/a
37	ARID3A	chr9:71432365-71432517	K562	blood:	n/a	n/a
38	ARID3A	chr9:71805069-71805695	HepG2	liver:	n/a	chr9:71805429-71805445 chr9:71805430-71805446
39	ARID3A	chr9:71785862-71786328	K562	blood:	n/a	n/a
40	ARID3A	chr9:71576402-71576900	K562	blood:	n/a	n/a
41	ARID3A	chr9:71802085-71802622	K562	blood:	n/a	n/a
42	ARID3A	chr9:71821041-71821305	K562	blood:	n/a	n/a
43	ATF1	chr9:71830870-71831226	K562	blood:	n/a	n/a
44	ATF1	chr9:71802159-71802633	K562	blood:	n/a	n/a
45	ATF1	chr9:71634756-71635094	K562	blood:	n/a	n/a
46	ATF1	chr9:71635543-71635967	K562	blood:	n/a	n/a
47	ATF1	chr9:71434023-71434218	K562	blood:	n/a	n/a
48	ATF1	chr9:71420516-71420729	K562	blood:	n/a	n/a
49	ATF1	chr9:71613777-71614153	K562	blood:	n/a	n/a
50	ATF1	chr9:71642591-71642873	K562	blood:	n/a	n/a

(count:3787 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71923415-71923465	HMEC	breast:	n/a
2	chr9:71649195-71649245	ECC-1	luminal epithelium:	n/a
3	chr9:71792936-71792986	HUVEC	blood vessel:	n/a
4	chr9:71651175-71651225	HEK293	kidney:	embryo
5	chr9:71736854-71736904	AG09309	skin:	n/a
6	chr9:71923415-71923465	HMEC	breast:	n/a
7	chr9:71649195-71649245	ECC-1	luminal epithelium:	n/a
8	chr9:71792936-71792986	HUVEC	blood vessel:	n/a
9	chr9:71651175-71651225	HEK293	kidney:	embryo
10	chr9:71736854-71736904	AG09309	skin:	n/a
11	chr9:71661107-71661157	MCF-7	breast:	n/a
12	chr9:71683936-71683986	HepG2	liver:	n/a
13	chr9:71923415-71923465	SK-N-MC	brain:	n/a
14	chr9:71936691-71936741	PrEC	prostate:	n/a
15	chr9:71589563-71589613	SKMC	muscle:	n/a
16	chr9:71863002-71863052	PrEC	prostate:	n/a
17	chr9:71650331-71650381	GM19239	blood:	n/a
18	chr9:71682302-71682352	T-47D	breast:	n/a
19	chr9:71939349-71939399	ECC-1	luminal epithelium:	n/a
20	chr9:71736409-71736459	ProgFib	skin:	n/a
21	chr9:71691305-71691355	BE2_C	brain:	n/a
22	chr9:71789541-71789591	HPAEpiC	pulmonary alveolar:	n/a
23	chr9:71650719-71650769	AG09319	gingival:	n/a
24	chr9:71682105-71682155	HEEpiC	esophagus:	n/a
25	chr9:71836408-71836458	GM06990	blood:	n/a
26	chr9:71795999-71796049	HRPEpiC	eye:	n/a
27	chr9:71947038-71947088	HEEpiC	esophagus:	n/a
28	chr9:71836408-71836458	HCPEpiC	choroid plexus:	n/a
29	chr9:71650331-71650381	SK-N-SH_RA	brain:	n/a
30	chr9:71736999-71737049	A549	lung:	n/a
31	chr9:71623401-71623451	SK-N-MC	brain:	n/a
32	chr9:71650237-71650287	HPAEpiC	pulmonary alveolar:	n/a
33	chr9:71623401-71623451	HMEC	breast:	n/a
34	chr9:71863159-71863209	U87	brain:	n/a
35	chr9:71647192-71647242	PFSK-1	brain:	n/a
36	chr9:71627667-71627717	AG04450	lung:	fetal
37	chr9:71788759-71788809	NB4	blood:	n/a
38	chr9:71785587-71785637	NHDF-neo	bronchial:	n/a
39	chr9:71923415-71923465	HRCEpiC	kidney:	n/a
40	chr9:71589563-71589613	Jurkat	blood:	n/a
41	chr9:71649195-71649245	HPAEpiC	pulmonary alveolar:	n/a
42	chr9:71647192-71647242	CMK	blood:	n/a
43	chr9:71737204-71737254	GM06990	blood:	n/a
44	chr9:71737756-71737806	Hela-S3	cervix:	n/a
45	chr9:71863002-71863052	AG10803	skin:	n/a
46	chr9:71647192-71647242	GM19239	blood:	n/a
47	chr9:71736999-71737049	HNPCEpiC	eye:	n/a
48	chr9:71629130-71629180	NHBE	bronchial:	n/a
49	chr9:71787778-71787828	HRE	kidney:	n/a
50	chr9:71736409-71736459	AG10803	skin:	n/a

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr9:71438576..71440423-chr9:71455612..71458592,2	K562	blood:
2	chr9:71319203..71320145-chr9:71614622..71615180,2	MCF-7	breast:
3	chr3:73160110..73160620-chr9:71420682..71421202,2	MCF-7	breast:
4	chr9:71893881..71896810-chr9:71896857..71898912,2	MCF-7	breast:
5	chr9:71649472..71654369-chr9:71735388..71737779,6	MCF-7	breast:
6	chr9:71793437..71796575-chr9:71800849..71803990,3	MCF-7	breast:
7	chr9:71850777..71853807-chr9:71854436..71856252,3	K562	blood:
8	chr9:71483920..71486082-chr9:71487169..71489754,2	K562	blood:
9	chr9:71838226..71839166-chr9:72164211..72164843,2	MCF-7	breast:
10	chr9:71420662..71423189-chr9:71425741..71428511,3	K562	blood:
11	chr9:71392481..71394675-chr9:71428955..71431546,2	K562	blood:
12	chr9:71826504..71828292-chr9:71833084..71835143,2	K562	blood:
13	chr9:71627843..71630592-chr9:71632071..71633725,3	K562	blood:
14	chr9:71887365..71889715-chr9:71890239..71892748,2	K562	blood:
15	chr9:71937291..71938805-chr9:71947853..71950647,2	MCF-7	breast:
16	chr9:71634711..71636591-chr9:71649540..71651584,2	MCF-7	breast:
17	chr9:71854349..71857071-chr9:71859863..71862039,2	MCF-7	breast:
18	chr9:71830973..71833151-chr9:71834177..71836449,3	K562	blood:
19	chr9:71666774..71669833-chr9:71734752..71737934,3	MCF-7	breast:
20	chr9:71601422..71604412-chr9:71607352..71608900,2	MCF-7	breast:
21	chr9:71743905..71746446-chr9:71805495..71808231,2	MCF-7	breast:
22	chr9:71478285..71480867-chr9:71481891..71483651,2	K562	blood:
23	chr11:62607625..62610617-chr9:71419682..71421202,4	K562	blood:
24	chr9:71408861..71411177-chr9:71411346..71415020,3	K562	blood:
25	chr9:71600704..71602578-chr9:71603137..71605557,2	K562	blood:
26	chr9:71954955..71956543-chr9:71958327..71960224,2	MCF-7	breast:
27	chr9:71587606..71589215-chr9:71606682..71608603,2	MCF-7	breast:
28	chr1:146555490..146556430-chr9:71736325..71736974,2	Hela-S3	cervix:
29	chr9:71477461..71479791-chr9:71480861..71483693,2	MCF-7	breast:
30	chr9:71733939..71735989-chr9:71814942..71816605,2	MCF-7	breast:
31	chr9:71459669..71460505-chr9:71614463..71615113,2	MCF-7	breast:
32	chr9:71811478..71813581-chr9:72000578..72003034,2	MCF-7	breast:
33	chr9:71877776..71879849-chr9:71881788..71883583,2	MCF-7	breast:
34	chr9:71576569..71578561-chr9:71582492..71584226,2	MCF-7	breast:
35	chr9:71734182..71738595-chr9:71741906..71745315,7	MCF-7	breast:
36	chr9:71477461..71479791-chr9:71480861..71483693,2	MCF-7	breast:
37	chr9:71907168..71909242-chr9:71938119..71941510,4	MCF-7	breast:
38	chr9:71779588..71781228-chr9:71781515..71783848,2	MCF-7	breast:
39	chr9:71907771..71908503-chr9:72004389..72005167,3	MCF-7	breast:
40	chr9:71751405..71753557-chr9:71754610..71757893,3	MCF-7	breast:
41	chr11:62608622..62609223-chr9:71420682..71421202,6	Hela-S3	cervix:
42	chr13:48611578..48612294-chr9:71736012..71736825,2	Hela-S3	cervix:
43	chr9:71598980..71601285-chr9:71602200..71604374,2	K562	blood:
44	chr9:71877776..71879849-chr9:71881788..71883583,2	MCF-7	breast:
45	chr9:71774601..71776858-chr9:71777097..71779223,2	K562	blood:
46	chr9:71788912..71791294-chr9:71803857..71806378,3	MCF-7	breast:
47	chr9:71793437..71796575-chr9:71800849..71803990,3	MCF-7	breast:
48	chr9:71671307..71672957-chr9:71675793..71678189,2	MCF-7	breast:
49	chr3:73159867..73160571-chr9:71420682..71421682,2	Hela-S3	cervix:
50	chr9:71650420..71652084-chr9:71654261..71655791,2	MCF-7	breast:

(count:30 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-3	chr9:71919852-71919993	NR_047671
2	lnc-APBA1-3	chr9:71921064-71921206	NR_047671
3	lnc-APBA1-3	chr9:71921770-71921972	NR_047671
4	lnc-APBA1-3	chr9:71919852-71919993	XLOC_007724
5	lnc-PRKACG-1	chr9:71570856-71572127	NONHSAT131759
6	lnc-APBA1-6	chr9:71855143-71855736	NONHSAT131773
7	lnc-PRKACG-4	chr9:71625289-71625403	ucscGeneNc_uc004ahk_2
8	lnc-PRKACG-2	chr9:71780235-71782388	ENSG00000250944
9	lnc-PRKACG-1	chr9:71590580-71590735	NONHSAT131759
10	lnc-PRKACG-3	chr9:71437319-71437564	ENSG00000236733.1
11	lnc-APBA1-3	chr9:71921064-71921206	XLOC_007724
12	lnc-FAM122A-1	chr9:71400999-71401076	NONHSAT131753
13	lnc-APBA1-3	chr9:71911594-71911783	XLOC_007724
14	lnc-PRKACG-3	chr9:71458083-71458191	ENSG00000236733.1
15	lnc-PRKACG-1	chr9:71568004-71569861	ENSG00000249652
16	lnc-TJP2-1	chr9:71736209-71736281	ENSG00000227410.1
17	lnc-TJP2-1	chr9:71736400-71737148	ENSG00000227410.1
18	lnc-APBA1-3	chr9:71919852-71919993	XLOC_007724
19	lnc-APBA1-3	chr9:71921770-71922016	XLOC_007724
20	lnc-APBA1-5	chr9:71957870-71958977	ucscGeneNc_uc004aho_1
21	lnc-APBA1-3	chr9:71911599-71911783	XLOC_007724
22	lnc-PRKACG-4	chr9:71624143-71625000	ucscGeneNc_uc004ahk_2
23	lnc-PRKACG-3	chr9:71439046-71439206	ENSG00000236733.1
24	lnc-PRKACG-5	chr9:71563250-71563521	expReg_chr9_3063_-
25	lnc-APBA1-5	chr9:71962248-71962478	ucscGeneNc_uc004aho_1
26	lnc-PRKACG-1	chr9:71571942-71572127	ENSG00000249652
27	lnc-PRKACG-2	chr9:71785572-71785971	ENSG00000250944
28	lnc-APBA1-3	chr9:71921770-71922009	XLOC_007724
29	lnc-APBA1-3	chr9:71911597-71911783	NR_047671
30	lnc-PRKACG-1	chr9:71590580-71590757	ENSG00000249652

No data

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

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

Variant related genes	Relation type
FXN	TF binding region
ENSG00000236998	TF binding region
ENSG00000236733	TF binding region
FAM189A2	TF binding region
ENSG00000269295	TF binding region
PRKACG	TF binding region
ENSG00000270236	TF binding region
RNU6-820P	TF binding region
TJP2	TF binding region
FXN	CpG island
ENSG00000236998	CpG island
ENSG00000236733	CpG island
FAM189A2	CpG island
ENSG00000269295	CpG island
PRKACG	CpG island
ENSG00000270236	CpG island
RNU6-820P	CpG island
TJP2	CpG island
ENSG00000136159	chromatin interactions
ENSG00000119139	chromatin interactions
ENSG00000187866	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000236733	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000126216	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000075914	chromatin interactions
ENSG00000236998	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000163812	chromatin interactions
ENSG00000270236	chromatin interactions
ENSG00000136143	chromatin interactions
ENSG00000254995	chromatin interactions
ENSG00000223247	chromatin interactions
ENSG00000124222	chromatin interactions
ENSG00000165059	chromatin interactions
ENSG00000135063	chromatin interactions
ENSG00000165060	chromatin interactions
ENSG00000001167	chromatin interactions
ENSG00000107242	chromatin interactions
ENSG00000141367	chromatin interactions
ENSG00000132849	chromatin interactions
ENSG00000272434	chromatin interactions
APITD1	miRNA target sites
FLOT1	miRNA target sites
SMAD7	miRNA target sites
NFIB	miRNA target sites
TRIP12	miRNA target sites

Extended variants
information (count: 21483 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:21483 , 50 per page) page: 1 2 3 4 5 6 7 ... 430

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117964220	chr9:71398716-71398717	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577687714	chr9:71398751-71398752	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538769634	chr9:71398767-71398768	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs553790880	chr9:71398769-71398770	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs57797740	chr9:71398797-71398798	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190233475	chr9:71398815-71398816	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs72122506	chr9:71398840-71398841	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs561025569	chr9:71398841-71398842	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs61515628	chr9:71398843-71398844	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs398068613	chr9:71398846-71398847	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs571687270	chr9:71398883-71398884	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs145582503	chr9:71398890-71398891	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs375396083	chr9:71398892-71398893	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs562971191	chr9:71398908-71398909	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs148870690	chr9:71398919-71398920	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs78306953	chr9:71398923-71398924	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs146591524	chr9:71398954-71398955	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs527682989	chr9:71399048-71399049	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182089968	chr9:71399096-71399097	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs570408457	chr9:71399104-71399105	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs368628545	chr9:71399107-71399108	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567881035	chr9:71399110-71399111	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs538408801	chr9:71399119-71399120	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs550087270	chr9:71399174-71399175	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571847665	chr9:71399221-71399222	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs72267457	chr9:71399229-71399230	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs57463596	chr9:71399230-71399231	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs397710536	chr9:71399234-71399235	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs139102208	chr9:71399256-71399257	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs553954445	chr9:71399287-71399288	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550299968	chr9:71399309-71399310	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs540020289	chr9:71399310-71399311	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs117550699	chr9:71399363-71399364	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs79082283	chr9:71399431-71399432	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs187949088	chr9:71399477-71399478	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs11143714	chr9:71399495-71399496	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs564916403	chr9:71399536-71399537	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs193007650	chr9:71399556-71399557	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs184088525	chr9:71399561-71399562	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs77439013	chr9:71399600-71399601	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs188941144	chr9:71399730-71399731	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs549132874	chr9:71399737-71399738	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs561364994	chr9:71399846-71399847	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74548904	chr9:71399880-71399881	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs575349483	chr9:71399960-71399961	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs117656842	chr9:71400034-71400035	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571863654	chr9:71400040-71400041	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs544208266	chr9:71400079-71400080	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs547471814	chr9:71400095-71400096	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564038350	chr9:71400127-71400128	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Acute lymphoblastic leukemia	21098271	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:11942 , 50 per page) page: 1 2 3 4 5 6 7 ... 239

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71395600-71400200	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr9:71395800-71398800	Enhancers	Small Intestine	intestine
3	chr9:71395800-71400200	Enhancers	Primary B cells from peripheral blood	blood
4	chr9:71396000-71399000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:71396000-71399000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr9:71396000-71399200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:71396000-71400400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr9:71396000-71402400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr9:71396000-71403400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:71396000-71408200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:71396200-71398800	Enhancers	Fetal Intestine Large	intestine
12	chr9:71396200-71399000	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr9:71396200-71399000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr9:71396200-71399000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:71396200-71399000	Enhancers	HUVEC	blood vessel
16	chr9:71396200-71399200	Enhancers	Primary hematopoietic stem cells	blood
17	chr9:71396200-71399200	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:71396200-71399600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:71396200-71400600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:71396200-71400800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr9:71396200-71400800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr9:71396200-71400800	Enhancers	Brain Hippocampus Middle	brain
23	chr9:71396200-71400800	Enhancers	Fetal Heart	heart
24	chr9:71396200-71401000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr9:71396200-71401000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr9:71396200-71409800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:71396400-71398800	Enhancers	NHDF-Ad	bronchial
28	chr9:71396400-71399000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr9:71396400-71399000	Enhancers	HepG2	liver
30	chr9:71396400-71400200	Enhancers	Colon Smooth Muscle	Colon
31	chr9:71396600-71399000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr9:71396600-71399000	Enhancers	Fetal Thymus	thymus
33	chr9:71396600-71399200	Flanking Active TSS	Fetal Brain Female	brain
34	chr9:71396600-71400400	Enhancers	Thymus	Thymus
35	chr9:71396800-71398800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr9:71396800-71398800	Enhancers	Placenta Amnion	Placenta Amnion
37	chr9:71396800-71398800	Active TSS	Stomach Smooth Muscle	stomach
38	chr9:71396800-71399000	Flanking Active TSS	Fetal Brain Male	brain
39	chr9:71397200-71398800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr9:71397200-71399000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:71397200-71399200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr9:71397200-71400000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:71397200-71400200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr9:71397200-71401000	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr9:71397200-71402200	Weak transcription	A549	lung
46	chr9:71397200-71403800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:71397200-71404200	Weak transcription	Esophagus	oesophagus
48	chr9:71397200-71409600	Weak transcription	Colonic Mucosa	Colon
49	chr9:71397200-71417400	Weak transcription	Lung	lung
50	chr9:71397600-71399000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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