Variant report

Variant	nsv831611
Chromosome Location	chr9:72361905-72512134
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1753)
CpG islands
(count:489)
Chromatin interactive
region (count:95)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1753 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:72367593-72367788	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:72363143-72363934	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:72492804-72493198	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:72361797-72362287	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:72374662-72375390	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:72373360-72373563	HepG2	liver:	n/a	n/a
7	ATF1	chr9:72435414-72435768	K562	blood:	n/a	n/a
8	ATF1	chr9:72421082-72421463	K562	blood:	n/a	n/a
9	ATF2	chr9:72374612-72374898	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr9:72374581-72375322	GM12878	blood:	n/a	n/a
11	ATF3	chr9:72435435-72435639	K562	blood:	n/a	n/a
12	ATF3	chr9:72435327-72435740	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr9:72386875-72387222	K562	blood:	n/a	n/a
14	BACH1	chr9:72386930-72387304	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr9:72374810-72375429	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr9:72423819-72423841	K562	blood:	n/a	n/a
17	BACH1	chr9:72441169-72441387	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr9:72435836-72435882	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr9:72421299-72421335	K562	blood:	n/a	n/a
20	BACH1	chr9:72408765-72408800	K562	blood:	n/a	n/a
21	BCL3	chr9:72500373-72500859	A549	lung:	n/a	n/a
22	BCL3	chr9:72374554-72374995	GM12878	blood:	n/a	chr9:72374713-72374726 chr9:72374600-72374613 chr9:72374747-72374756 chr9:72374896-72374909
23	BCL3	chr9:72500239-72500884	A549	lung:	n/a	n/a
24	BCL3	chr9:72374941-72375380	A549	lung:	n/a	chr9:72374995-72375004 chr9:72375362-72375371
25	BCLAF1	chr9:72374438-72375400	GM12878	blood:	n/a	chr9:72374713-72374726 chr9:72374995-72375004 chr9:72375362-72375371 chr9:72374600-72374613 chr9:72374747-72374756 chr9:72374896-72374909
26	BCLAF1	chr9:72374362-72375253	GM12878	blood:	n/a	chr9:72374713-72374726 chr9:72374995-72375004 chr9:72374600-72374613 chr9:72374747-72374756 chr9:72374896-72374909
27	BHLHE40	chr9:72492881-72493119	K562	blood:	n/a	n/a
28	BHLHE40	chr9:72373912-72375320	GM12878	blood:	n/a	chr9:72374717-72374733
29	BHLHE40	chr9:72374558-72375184	K562	blood:	n/a	chr9:72374717-72374733
30	BRCA1	chr9:72374817-72374948	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr9:72492781-72493014	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr9:72374717-72374902	GM12878	blood:	n/a	n/a
33	BRCA1	chr9:72374762-72375287	Hela-S3	cervix:	n/a	n/a
34	CBX3	chr9:72374715-72375218	K562	blood:	n/a	n/a
35	CBX3	chr9:72427037-72427841	K562	blood:	n/a	n/a
36	CBX3	chr9:72427129-72427577	K562	blood:	n/a	n/a
37	CCNT2	chr9:72374533-72375194	K562	blood:	n/a	chr9:72374713-72374722
38	CCNT2	chr9:72426386-72426732	K562	blood:	n/a	n/a
39	CCNT2	chr9:72365489-72365689	K562	blood:	n/a	n/a
40	CEBPB	chr9:72442087-72442309	K562	blood:	n/a	n/a
41	CEBPB	chr9:72404742-72404801	HepG2	liver:	n/a	chr9:72404764-72404777 chr9:72404765-72404776 chr9:72404764-72404777
42	CEBPB	chr9:72487016-72487296	HepG2	liver:	n/a	chr9:72487123-72487134 chr9:72487123-72487136
43	CEBPB	chr9:72446559-72446931	IMR90	lung:	n/a	chr9:72446737-72446748
44	CEBPB	chr9:72440528-72440731	IMR90	lung:	n/a	n/a
45	CEBPB	chr9:72505931-72506206	HepG2	liver:	n/a	chr9:72506059-72506070
46	CEBPB	chr9:72428787-72429073	HepG2	liver:	n/a	chr9:72428923-72428934
47	CEBPB	chr9:72425598-72425829	K562	blood:	n/a	chr9:72425689-72425700
48	CEBPB	chr9:72492836-72493227	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr9:72425577-72425838	HepG2	liver:	n/a	chr9:72425689-72425700
50	CEBPB	chr9:72505957-72506205	A549	lung:	n/a	chr9:72506059-72506070

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:72436057-72436107	ovcar-3	ovarian:	n/a
2	chr9:72436057-72436107	ovcar-3	ovarian:	n/a
3	chr9:72436057-72436107	MCF-7	breast:	n/a
4	chr9:72436057-72436107	K562	blood:	n/a
5	chr9:72434798-72434848	PANC-1	pancreas:	n/a
6	chr9:72375599-72375649	HepG2	liver:	n/a
7	chr9:72434798-72434848	K562	blood:	n/a
8	chr9:72435533-72435583	LNCaP	prostate:	n/a
9	chr9:72374488-72374538	HUVEC	blood vessel:	n/a
10	chr9:72374488-72374538	CMK	blood:	n/a
11	chr9:72371073-72371123	HRPEpiC	eye:	n/a
12	chr9:72375599-72375649	HCF	heart:	n/a
13	chr9:72434798-72434848	NHDF-neo	bronchial:	n/a
14	chr9:72435533-72435583	HRPEpiC	eye:	n/a
15	chr9:72371073-72371123	Caco-2	colon:	n/a
16	chr9:72435533-72435583	HRE	kidney:	n/a
17	chr9:72374488-72374538	HRPEpiC	eye:	n/a
18	chr9:72374488-72374538	AoSMC	blood vessel:	n/a
19	chr9:72375102-72375152	PANC-1	pancreas:	n/a
20	chr9:72435576-72435626	PFSK-1	brain:	n/a
21	chr9:72371073-72371123	MCF-7	breast:	n/a
22	chr9:72371073-72371123	NHBE	bronchial:	n/a
23	chr9:72435576-72435626	NH-A	brain:	n/a
24	chr9:72374488-72374538	PFSK-1	brain:	n/a
25	chr9:72375102-72375152	T-47D	breast:	n/a
26	chr9:72371073-72371123	SK-N-MC	brain:	n/a
27	chr9:72371073-72371123	H1-hESC	embryonic stem cell:	embryo
28	chr9:72434798-72434848	HEK293	kidney:	embryo
29	chr9:72371073-72371123	HRE	kidney:	n/a
30	chr9:72371073-72371123	BJ	skin:	n/a
31	chr9:72434798-72434848	AoSMC	blood vessel:	n/a
32	chr9:72435533-72435583	HRCEpiC	kidney:	n/a
33	chr9:72434798-72434848	GM12892	blood:	n/a
34	chr9:72434798-72434848	HRPEpiC	eye:	n/a
35	chr9:72436057-72436107	BJ	skin:	n/a
36	chr9:72375102-72375152	HMEC	breast:	n/a
37	chr9:72435576-72435626	GM12892	blood:	n/a
38	chr9:72371073-72371123	IMR90	lung:	fetal
39	chr9:72374488-72374538	NT2-D1	testis:	n/a
40	chr9:72436057-72436107	HCPEpiC	choroid plexus:	n/a
41	chr9:72435576-72435626	SKMC	muscle:	n/a
42	chr9:72374488-72374538	T-47D	breast:	n/a
43	chr9:72436057-72436107	ECC-1	luminal epithelium:	n/a
44	chr9:72435576-72435626	HMEC	breast:	n/a
45	chr9:72374488-72374538	AG04449	skin:	fetal
46	chr9:72375102-72375152	SK-N-SH	brain:	n/a
47	chr9:72435533-72435583	SK-N-MC	brain:	n/a
48	chr9:72435533-72435583	GM19239	blood:	n/a
49	chr9:72435576-72435626	SAEC	small airway:	n/a
50	chr9:72435576-72435626	Hepatocyte	liver:	n/a

(count:95 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:72372528..72375174-chr9:72425595..72427352,2	K562	blood:
2	chr9:72466770..72470991-chr9:72472018..72475663,4	K562	blood:
3	chr9:72360551..72362642-chr9:72371189..72374048,2	K562	blood:
4	chr9:72366292..72369666-chr9:72369993..72373484,7	K562	blood:
5	chr9:72360152..72362800-chr9:72364655..72369107,4	K562	blood:
6	chr9:72357421..72360340-chr9:72369616..72371196,2	K562	blood:
7	chr9:72375017..72376522-chr9:72378625..72381142,2	MCF-7	breast:
8	chr9:72369991..72372114-chr9:72372371..72373981,2	K562	blood:
9	chr9:72364400..72366683-chr9:72367530..72370078,2	MCF-7	breast:
10	chr9:72424745..72427751-chr9:72433882..72436970,3	K562	blood:
11	chr22:19434749..19435514-chr9:72374574..72375312,2	Hela-S3	cervix:
12	chr9:72287581..72288559-chr9:72492736..72493419,3	MCF-7	breast:
13	chr9:72359106..72363474-chr9:72372322..72376083,7	MCF-7	breast:
14	chr9:72360858..72363722-chr9:72367124..72369107,2	K562	blood:
15	chr9:72369892..72372039-chr9:72377603..72379852,2	MCF-7	breast:
16	chr9:72170921..72173288-chr9:72491881..72494788,2	MCF-7	breast:
17	chr9:72424618..72427115-chr9:72429940..72433348,3	K562	blood:
18	chr9:72440634..72442865-chr9:72442939..72445478,2	K562	blood:
19	chr9:72375078..72376578-chr9:72378308..72381037,2	K562	blood:
20	chr9:72399869..72402528-chr9:72404405..72407198,3	K562	blood:
21	chr9:72436123..72439031-chr9:72442805..72445416,2	K562	blood:
22	chr9:72363023..72365111-chr9:72369370..72372154,2	K562	blood:
23	chr9:72366998..72368657-chr9:72373564..72375559,2	K562	blood:
24	chr9:72360551..72362642-chr9:72371189..72374048,2	K562	blood:
25	chr9:72384593..72386711-chr9:72390096..72392732,2	K562	blood:
26	chr9:72375672..72377949-chr9:72385605..72387785,2	K562	blood:
27	chr9:72384593..72387645-chr9:72389728..72392732,3	K562	blood:
28	chr9:72375765..72377296-chr9:72428952..72430591,2	K562	blood:
29	chr9:72363023..72365111-chr9:72369370..72372154,2	K562	blood:
30	chr9:72366292..72369666-chr9:72369993..72373484,7	K562	blood:
31	chr9:72373387..72376208-chr9:72873924..72875696,2	K562	blood:
32	chr9:72361796..72363677-chr9:72418688..72421431,2	K562	blood:
33	chr9:72420075..72423199-chr9:72424898..72428834,6	K562	blood:
34	chr9:72287564..72288433-chr9:72400387..72401338,3	MCF-7	breast:
35	chr9:72443896..72446419-chr9:72448241..72450702,2	MCF-7	breast:
36	chr9:72437772..72439423-chr9:72448142..72450322,2	K562	blood:
37	chr9:72364587..72367878-chr9:72369030..72373518,3	MCF-7	breast:
38	chr9:72381383..72383690-chr9:72387681..72389643,2	K562	blood:
39	chr9:72433968..72436412-chr9:72443051..72445385,2	K562	blood:
40	chr9:72372528..72377286-chr9:72423257..72427647,6	K562	blood:
41	chr9:72437046..72439093-chr9:72448277..72451553,3	K562	blood:
42	chr9:72089279..72091764-chr9:72373318..72374835,2	MCF-7	breast:
43	chr9:72375011..72377307-chr9:72377548..72379098,2	K562	blood:
44	chr9:72361796..72363677-chr9:72418688..72421431,2	K562	blood:
45	chr9:72360858..72363722-chr9:72367124..72369107,2	K562	blood:
46	chr9:72425660..72428855-chr9:72433603..72435458,3	K562	blood:
47	chr9:72375672..72377949-chr9:72385605..72387785,2	K562	blood:
48	chr9:72424618..72427115-chr9:72429940..72433348,3	K562	blood:
49	chr9:72363859..72367648-chr9:72373327..72375290,5	MCF-7	breast:
50	chr9:72440634..72442865-chr9:72442939..72445478,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTAR1-2	chr9:72435469-72435583	XLOC_007727
2	lnc-MAMDC2-3	chr9:72499969-72500038	NONHSAT131791
3	lnc-C9orf135-1	chr9:72408959-72409255	XLOC_007393
4	lnc-C9orf135-1	chr9:72402048-72402118	XLOC_007393
5	lnc-PTAR1-2	chr9:72434321-72435183	NR_038833
6	lnc-PTAR1-2	chr9:72435469-72435583	ENSG00000225626
7	lnc-PTAR1-1	chr9:72432133-72432343	XLOC_007726
8	lnc-PTAR1-2	chr9:72435473-72435599	ENSG00000225626
9	lnc-PTAR1-2	chr9:72434743-72435183	ENSG00000225626
10	lnc-PTAR1-2	chr9:72434321-72435180	ENSG00000225626
11	lnc-PTAR1-1	chr9:72432605-72432722	XLOC_007726
12	lnc-MAMDC2-3	chr9:72471471-72471589	NONHSAT131791
13	lnc-MAMDC2-3	chr9:72472825-72472893	NONHSAT131791
14	lnc-MAMDC2-3	chr9:72435744-72435947	NONHSAT131791
15	lnc-PTAR1-2	chr9:72435566-72435655	NR_038833
16	lnc-PTAR1-3	chr9:72499279-72499566	NONHSAT131792
17	lnc-PTAR1-2	chr9:72434323-72435180	XLOC_007727
18	lnc-MAMDC2-3	chr9:72501754-72501811	NONHSAT131791

No data

Variant related genes	Relation type
C9orf135-AS1	TF binding region
PTAR1	TF binding region
RN7SL570P	TF binding region
C9orf135	TF binding region
C9orf135-AS1	CpG island
PTAR1	CpG island
RN7SL570P	CpG island
C9orf135	CpG island
ENSG00000204711	chromatin interactions
ENSG00000261447	chromatin interactions
ENSG00000242259	chromatin interactions
ENSG00000225626	chromatin interactions
ENSG00000100084	chromatin interactions
ENSG00000198887	chromatin interactions
ENSG00000188647	chromatin interactions
ENSG00000185065	chromatin interactions
ENSG00000127554	chromatin interactions
ENSG00000107282	chromatin interactions
ENSG00000143303	chromatin interactions
ENSG00000143319	chromatin interactions
CCPG1	miRNA target sites
C15orf24	miRNA target sites
HIBADH	miRNA target sites
RPN2	miRNA target sites

Extended variants
information (count: 5020 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:5020 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190669572	chr9:72361929-72361930	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545537971	chr9:72361941-72361942	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560353655	chr9:72361969-72361970	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527491206	chr9:72361975-72361976	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369282725	chr9:72361985-72361986	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs182480310	chr9:72362003-72362004	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs531326187	chr9:72362021-72362022	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13287102	chr9:72362026-72362027	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs570988231	chr9:72362045-72362046	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538632957	chr9:72362047-72362048	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs538318672	chr9:72362059-72362060	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138690920	chr9:72362070-72362071	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557632227	chr9:72362101-72362102	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs566685198	chr9:72362102-72362103	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369090916	chr9:72362130-72362131	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10511969	chr9:72362158-72362159	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs72721132	chr9:72362196-72362197	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187136469	chr9:72362242-72362243	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555024632	chr9:72362257-72362258	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs369471226	chr9:72362271-72362272	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541092392	chr9:72362276-72362277	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs375464770	chr9:72362287-72362288	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112528287	chr9:72362294-72362295	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs10123968	chr9:72362318-72362319	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191512810	chr9:72362356-72362357	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs578080173	chr9:72362383-72362384	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545476419	chr9:72362409-72362410	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560569572	chr9:72362427-72362428	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554771119	chr9:72362462-72362463	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs574500138	chr9:72362478-72362479	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573561472	chr9:72362501-72362502	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs182438467	chr9:72362502-72362503	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543266717	chr9:72362566-72362567	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141121820	chr9:72362574-72362575	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs143604326	chr9:72362626-72362627	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531536463	chr9:72362682-72362683	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550070756	chr9:72362770-72362771	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs187903981	chr9:72362771-72362772	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs531991300	chr9:72362821-72362822	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547044432	chr9:72362847-72362848	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112995257	chr9:72362904-72362905	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs77183126	chr9:72362939-72362940	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs534397889	chr9:72362949-72362950	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs193009321	chr9:72362972-72362973	Genic enhancers Enhancers Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs10217776	chr9:72363007-72363008	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs377350743	chr9:72363016-72363017	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538119240	chr9:72363017-72363018	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs62571893	chr9:72363094-72363095	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148049405	chr9:72363141-72363142	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs578036109	chr9:72363149-72363150	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2146 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72327800-72366800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:72337400-72366400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:72347000-72364600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr9:72347200-72364800	Weak transcription	Fetal Brain Female	brain
6	chr9:72347200-72371400	Weak transcription	Small Intestine	intestine
7	chr9:72347200-72373400	Weak transcription	Esophagus	oesophagus
8	chr9:72347200-72373400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:72347200-72374200	Weak transcription	Spleen	Spleen
10	chr9:72347400-72362200	Weak transcription	Aorta	Aorta
11	chr9:72347400-72374000	Weak transcription	Gastric	stomach
12	chr9:72347600-72362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:72347600-72362600	Weak transcription	Right Ventricle	heart
14	chr9:72347600-72368400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr9:72348400-72363800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr9:72348600-72364000	Weak transcription	Colonic Mucosa	Colon
17	chr9:72348800-72362000	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:72348800-72362200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:72348800-72362200	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:72348800-72362400	Weak transcription	Lung	lung
21	chr9:72348800-72368600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr9:72348800-72373000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:72348800-72373000	Weak transcription	NHEK	skin
24	chr9:72348800-72373200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr9:72349000-72362200	Weak transcription	Brain Angular Gyrus	brain
26	chr9:72349200-72362000	Weak transcription	Thymus	Thymus
27	chr9:72349200-72363800	Weak transcription	NH-A	brain
28	chr9:72349600-72363800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:72350200-72363800	Weak transcription	HSMMtube	muscle
30	chr9:72352400-72362200	Weak transcription	Fetal Stomach	stomach
31	chr9:72352400-72365800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:72353400-72365800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr9:72353600-72362200	Weak transcription	Psoas Muscle	Psoas
34	chr9:72356600-72362000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr9:72356600-72364000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:72356800-72370000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr9:72358600-72363000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:72359000-72362800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:72359200-72362000	Weak transcription	Fetal Heart	heart
40	chr9:72359400-72362200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr9:72359600-72362400	Genic enhancers	Primary T cells from cord blood	blood
42	chr9:72359600-72363200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:72359600-72363400	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:72359600-72363800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr9:72359600-72365600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr9:72359600-72365600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:72359600-72365800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:72359800-72362400	Genic enhancers	HUES48 Cell Line	embryonic stem cell
49	chr9:72359800-72365800	Strong transcription	Dnd41	blood
50	chr9:72359800-72373400	Weak transcription	Placenta	Placenta

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