Variant report

Variant	nsv1050141
Chromosome Location	chr9:108219667-108317424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:870)
CpG islands
(count:245)
Chromatin interactive
region (count:51)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:870 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:108269271-108269893	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:108301809-108301901	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:108266166-108266407	K562	blood:	n/a	n/a
4	ARID3A	chr9:108311704-108311937	HepG2	liver:	n/a	n/a
5	ATF2	chr9:108304063-108304566	GM12878	blood:	n/a	n/a
6	ATF2	chr9:108272264-108272817	GM12878	blood:	n/a	n/a
7	ATF2	chr9:108262465-108263203	GM12878	blood:	n/a	n/a
8	ATF2	chr9:108272243-108272716	GM12878	blood:	n/a	n/a
9	ATF2	chr9:108262532-108263181	GM12878	blood:	n/a	n/a
10	ATF2	chr9:108297869-108298796	GM12878	blood:	n/a	n/a
11	ATF2	chr9:108297994-108298741	GM12878	blood:	n/a	n/a
12	BACH1	chr9:108266132-108266566	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr9:108266147-108266568	K562	blood:	n/a	n/a
14	BATF	chr9:108298082-108298866	GM12878	blood:	n/a	n/a
15	BATF	chr9:108272402-108272693	GM12878	blood:	n/a	n/a
16	BATF	chr9:108297171-108297470	GM12878	blood:	n/a	chr9:108297311-108297322 chr9:108297297-108297308 chr9:108297312-108297322
17	BATF	chr9:108285045-108285638	GM12878	blood:	n/a	n/a
18	BATF	chr9:108304115-108304509	GM12878	blood:	n/a	n/a
19	BATF	chr9:108284931-108285162	GM12878	blood:	n/a	n/a
20	BATF	chr9:108285308-108285566	GM12878	blood:	n/a	n/a
21	BATF	chr9:108262499-108263024	GM12878	blood:	n/a	n/a
22	BATF	chr9:108298333-108298628	GM12878	blood:	n/a	n/a
23	BATF	chr9:108266165-108266492	GM12878	blood:	n/a	chr9:108266367-108266378
24	BATF	chr9:108304158-108304497	GM12878	blood:	n/a	n/a
25	BATF	chr9:108297131-108297508	GM12878	blood:	n/a	chr9:108297311-108297322 chr9:108297297-108297308 chr9:108297312-108297322
26	BATF	chr9:108269697-108269902	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:108304214-108304468	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:108285230-108285526	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:108298203-108298684	GM12878	blood:	n/a	chr9:108298235-108298244 chr9:108298265-108298274 chr9:108298266-108298275 chr9:108298234-108298243
30	BCL11A	chr9:108272399-108272744	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:108262390-108263043	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:108262395-108262838	GM12878	blood:	n/a	n/a
33	BCL3	chr9:108298065-108298669	GM12878	blood:	n/a	chr9:108298235-108298244 chr9:108298265-108298274 chr9:108298266-108298275 chr9:108298234-108298243
34	BCL3	chr9:108304118-108304532	GM12878	blood:	n/a	n/a
35	BCLAF1	chr9:108298201-108298541	GM12878	blood:	n/a	chr9:108298235-108298244 chr9:108298265-108298274 chr9:108298266-108298275 chr9:108298234-108298243
36	BCLAF1	chr9:108262421-108263189	GM12878	blood:	n/a	chr9:108263127-108263136
37	BCLAF1	chr9:108303939-108304472	GM12878	blood:	n/a	n/a
38	BHLHE40	chr9:108266015-108266855	GM12878	blood:	n/a	n/a
39	BHLHE40	chr9:108262406-108263321	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:108273211-108273224	GM12878	blood:	n/a	n/a
41	BHLHE40	chr9:108266213-108266311	K562	blood:	n/a	n/a
42	BHLHE40	chr9:108236284-108236318	A549	lung:	n/a	n/a
43	BHLHE40	chr9:108298149-108298556	GM12878	blood:	n/a	n/a
44	CBX3	chr9:108220550-108221003	K562	blood:	n/a	n/a
45	CBX3	chr9:108220439-108221150	K562	blood:	n/a	n/a
46	CEBPB	chr9:108266302-108266371	K562	blood:	n/a	n/a
47	CEBPB	chr9:108232333-108232556	A549	lung:	n/a	n/a
48	CEBPB	chr9:108297491-108297770	HepG2	liver:	n/a	chr9:108297621-108297632
49	CEBPB	chr9:108269423-108269801	HepG2	liver:	n/a	n/a
50	CEBPB	chr9:108301811-108302217	HCT-116	colon:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:108282077-108282127	HRE	kidney:	n/a
2	chr9:108282077-108282127	HRE	kidney:	n/a
3	chr9:108311111-108311161	Jurkat	blood:	n/a
4	chr9:108311111-108311161	HRE	kidney:	n/a
5	chr9:108282477-108282527	Hepatocyte	liver:	n/a
6	chr9:108282077-108282127	HIPEpiC	eye:	n/a
7	chr9:108311111-108311161	PANC-1	pancreas:	n/a
8	chr9:108311111-108311161	CMK	blood:	n/a
9	chr9:108285092-108285142	NHBE	bronchial:	n/a
10	chr9:108282077-108282127	AoSMC	blood vessel:	n/a
11	chr9:108285092-108285142	HCT-116	colon:	n/a
12	chr9:108282077-108282127	SAEC	small airway:	n/a
13	chr9:108285092-108285142	T-47D	breast:	n/a
14	chr9:108285092-108285142	BJ	skin:	n/a
15	chr9:108282077-108282127	AG09319	gingival:	n/a
16	chr9:108282077-108282127	GM06990	blood:	n/a
17	chr9:108285092-108285142	AoSMC	blood vessel:	n/a
18	chr9:108282077-108282127	MCF-7	breast:	n/a
19	chr9:108285092-108285142	HEK293	kidney:	embryo
20	chr9:108282077-108282127	HCF	heart:	n/a
21	chr9:108282077-108282127	AG09309	skin:	n/a
22	chr9:108285092-108285142	ECC-1	luminal epithelium:	n/a
23	chr9:108282477-108282527	RPTEC	kidney:	n/a
24	chr9:108285092-108285142	BE2_C	brain:	n/a
25	chr9:108311111-108311161	HPAEpiC	pulmonary alveolar:	n/a
26	chr9:108282477-108282527	PANC-1	pancreas:	n/a
27	chr9:108282477-108282527	HEK293	kidney:	embryo
28	chr9:108311111-108311161	Hela-S3	cervix:	n/a
29	chr9:108285092-108285142	AG04449	skin:	fetal
30	chr9:108282077-108282127	SK-N-SH	brain:	n/a
31	chr9:108282477-108282527	GM12878	blood:	n/a
32	chr9:108311111-108311161	GM12891	blood:	n/a
33	chr9:108311111-108311161	HCT-116	colon:	n/a
34	chr9:108282477-108282527	NH-A	brain:	n/a
35	chr9:108282477-108282527	HNPCEpiC	eye:	n/a
36	chr9:108282477-108282527	HUVEC	blood vessel:	n/a
37	chr9:108285092-108285142	GM19239	blood:	n/a
38	chr9:108285092-108285142	Hela-S3	cervix:	n/a
39	chr9:108285092-108285142	GM12891	blood:	n/a
40	chr9:108282077-108282127	NHBE	bronchial:	n/a
41	chr9:108282477-108282527	PFSK-1	brain:	n/a
42	chr9:108282477-108282527	K562	blood:	n/a
43	chr9:108311111-108311161	RPTEC	kidney:	n/a
44	chr9:108282077-108282127	GM12878	blood:	n/a
45	chr9:108311111-108311161	AG04449	skin:	fetal
46	chr9:108285092-108285142	HL-60	blood:	n/a
47	chr9:108285092-108285142	Jurkat	blood:	n/a
48	chr9:108282477-108282527	MCF-7	breast:	n/a
49	chr9:108282477-108282527	AG04449	skin:	fetal
50	chr9:108282477-108282527	GM12891	blood:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:108261144..108264135-chr9:108265517..108268849,4	K562	blood:
2	chr9:108228659..108231354-chr9:108233201..108235205,2	K562	blood:
3	chr9:108260955..108262644-chr9:108265886..108267753,2	K562	blood:
4	chr9:108245164..108247258-chr9:108249628..108251228,2	K562	blood:
5	chr9:108210245..108212229-chr9:108256841..108259491,2	MCF-7	breast:
6	chr9:108222226..108224417-chr9:108226079..108228119,2	K562	blood:
7	chr9:108293123..108295259-chr9:108297045..108298602,2	K562	blood:
8	chr6:26020975..26022487-chr9:108293972..108296238,2	MCF-7	breast:
9	chr9:108285609..108287326-chr9:108292970..108295032,2	K562	blood:
10	chr9:108314759..108316945-chr9:108319984..108322234,2	K562	blood:
11	chr14:36277948..36278560-chr9:108281635..108282632,3	MCF-7	breast:
12	chr9:108236271..108237862-chr9:108239402..108241098,2	K562	blood:
13	chr9:108241533..108244376-chr9:108246766..108248301,2	K562	blood:
14	chr9:108187962..108189049-chr9:108237321..108238273,7	MCF-7	breast:
15	chr9:108311203..108313649-chr9:108317166..108319459,2	K562	blood:
16	chr9:108188133..108188900-chr9:108237564..108238302,2	MCF-7	breast:
17	chr9:108188025..108188833-chr9:108228643..108229576,2	MCF-7	breast:
18	chr9:108294400..108296396-chr9:108300252..108301863,2	K562	blood:
19	chr9:108222226..108224417-chr9:108226079..108228119,2	K562	blood:
20	chr9:108245164..108247258-chr9:108249628..108251228,2	K562	blood:
21	chr9:108311203..108313649-chr9:108317166..108319459,2	K562	blood:
22	chr14:36277422..36278517-chr9:108281643..108282650,6	Hela-S3	cervix:
23	chr9:108295821..108298820-chr9:108299705..108303201,3	MCF-7	breast:
24	chr9:108219652..108221418-chr9:108230487..108232069,2	K562	blood:
25	chr9:108236271..108237862-chr9:108239402..108241098,2	K562	blood:
26	chr14:36277944..36278658-chr9:108281633..108282168,6	MCF-7	breast:
27	chr9:108303576..108305468-chr9:108318629..108320964,2	MCF-7	breast:
28	chr9:108221322..108223726-chr9:108225722..108228119,2	K562	blood:
29	chr9:108221322..108223726-chr9:108225722..108228119,2	K562	blood:
30	chr9:108234268..108236013-chr9:108238178..108240628,2	MCF-7	breast:
31	chr2:187349629..187352498-chr9:108293568..108295157,2	MCF-7	breast:
32	chr9:108293123..108295259-chr9:108297045..108298602,2	K562	blood:
33	chr9:108228659..108231354-chr9:108233201..108235205,2	K562	blood:
34	chr9:108313005..108314954-chr9:108320273..108321938,2	MCF-7	breast:
35	chr14:36277910..36278633-chr9:108281633..108282156,7	HCT-116	colon:
36	chr14:36275899..36279251-chr9:108280657..108284109,7	MCF-7	breast:
37	chr9:108231365..108233350-chr9:108238200..108241165,2	MCF-7	breast:
38	chr9:108312149..108315123-chr9:108317166..108320384,3	K562	blood:
39	chr9:108219652..108221418-chr9:108230487..108232069,2	K562	blood:
40	chr14:36277068..36278820-chr9:108280649..108283643,2	K562	blood:
41	chr9:108256456..108258923-chr9:108260450..108263009,2	MCF-7	breast:
42	chr9:108295821..108298820-chr9:108299705..108303201,3	MCF-7	breast:
43	chr9:108231365..108233350-chr9:108238200..108241165,2	MCF-7	breast:
44	chr14:36278071..36278768-chr9:108281651..108282153,2	MCF-7	breast:
45	chr9:108260955..108262644-chr9:108265886..108267753,2	K562	blood:
46	chr14:36276993..36278689-chr9:108280633..108282157,4	MCF-7	breast:
47	chr9:108294400..108296396-chr9:108300252..108301863,2	K562	blood:
48	chr9:108285609..108287326-chr9:108292970..108295032,2	K562	blood:
49	chr9:108241533..108244376-chr9:108246766..108248301,2	K562	blood:
50	chr9:108310997..108313277-chr9:108319909..108321430,2	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCA1-2	chr9:108316326-108316624	NONHSAT133819
2	lnc-FKTN-1	chr9:108301589-108301714	NONHSAT133814
3	lnc-FKTN-1	chr9:108302459-108302607	NONHSAT133814
4	lnc-ABCA1-2	chr9:108316326-108316624	NONHSAT133817
5	lnc-ABCA1-2	chr9:108316326-108316624	NONHSAT133818
6	lnc-FKTN-1	chr9:108252918-108252990	NONHSAT133816
7	lnc-ABCA1-2	chr9:108316316-108316624	ENSG00000228317.1

No data

Variant related genes	Relation type
RALGAPA1P	TF binding region
FSD1L	TF binding region
FKTN	TF binding region
RALGAPA1P	CpG island
FSD1L	CpG island
FKTN	CpG island
ENSG00000065548	chromatin interactions
ENSG00000228317	chromatin interactions
ENSG00000174373	chromatin interactions
ENSG00000106701	chromatin interactions
ENSG00000266264	chromatin interactions
ENSG00000106692	chromatin interactions
ENSG00000196176	chromatin interactions

Extended variants
information (count: 3835 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:3835 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376477795	chr9:108219667-108219668	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs141144784	chr9:108219701-108219702	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558546799	chr9:108219752-108219753	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs78798156	chr9:108219762-108219763	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573173674	chr9:108219786-108219787	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs144748863	chr9:108219810-108219811	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556227686	chr9:108219818-108219819	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs574291513	chr9:108219833-108219834	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs541653968	chr9:108219840-108219841	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs553812494	chr9:108219891-108219892	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138688748	chr9:108219920-108219921	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs78810061	chr9:108219941-108219942	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564514258	chr9:108219942-108219943	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs182378574	chr9:108219961-108219962	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs544092253	chr9:108219978-108219979	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs562395792	chr9:108220003-108220004	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs529495496	chr9:108220017-108220018	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141277709	chr9:108220023-108220024	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560262019	chr9:108220045-108220046	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527386754	chr9:108220057-108220058	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150220627	chr9:108220061-108220062	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138856367	chr9:108220078-108220079	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537493571	chr9:108220089-108220090	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186821560	chr9:108220111-108220112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115345380	chr9:108220209-108220210	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149348806	chr9:108220215-108220216	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs553552254	chr9:108220221-108220222	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs572165153	chr9:108220268-108220269	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs539912154	chr9:108220279-108220280	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs144698451	chr9:108220286-108220287	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs368462206	chr9:108220310-108220311	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544875006	chr9:108220313-108220314	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs75441909	chr9:108220320-108220321	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs543486427	chr9:108220342-108220343	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs372440741	chr9:108220399-108220400	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs117642498	chr9:108220431-108220432	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs541593783	chr9:108220441-108220442	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs559999714	chr9:108220446-108220447	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111674649	chr9:108220447-108220448	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs552249713	chr9:108220522-108220523	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs538886498	chr9:108220534-108220535	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564058385	chr9:108220580-108220581	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77946536	chr9:108220640-108220641	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189678732	chr9:108220661-108220662	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567966034	chr9:108220663-108220664	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs535370328	chr9:108220667-108220668	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs547327732	chr9:108220676-108220677	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565535237	chr9:108220688-108220689	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs544222130	chr9:108220702-108220703	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs150822607	chr9:108220704-108220705	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
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
Oral squamous cell carcinoma	17134496	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
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:1305 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108211000-108248000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr9:108211200-108219800	Weak transcription	Lung	lung
3	chr9:108211200-108220000	Weak transcription	Left Ventricle	heart
4	chr9:108211200-108220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:108211200-108220400	Weak transcription	Primary B cells from cord blood	blood
6	chr9:108211200-108220600	Weak transcription	Ovary	ovary
7	chr9:108211400-108220000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:108211400-108220000	Weak transcription	Right Ventricle	heart
9	chr9:108211400-108222000	Weak transcription	Stomach Mucosa	stomach
10	chr9:108211600-108220000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:108211800-108219800	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:108211800-108220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr9:108211800-108227000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:108212200-108219800	Weak transcription	Brain Anterior Caudate	brain
15	chr9:108212200-108220000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr9:108212200-108220000	Weak transcription	Fetal Intestine Small	intestine
17	chr9:108212200-108220400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr9:108212200-108220600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:108212200-108234800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr9:108212400-108219800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:108212600-108220000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:108212600-108220000	Weak transcription	NHEK	skin
23	chr9:108212800-108220200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:108212800-108220200	Weak transcription	Hela-S3	cervix
25	chr9:108212800-108226600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:108213600-108219800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr9:108214000-108220000	Weak transcription	A549	lung
28	chr9:108214200-108220400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr9:108214400-108219800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:108214400-108220000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:108214400-108220000	Weak transcription	NHLF	lung
32	chr9:108214400-108221000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr9:108214400-108227200	Weak transcription	Fetal Kidney	kidney
34	chr9:108214600-108220000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:108214600-108220000	Weak transcription	Fetal Stomach	stomach
36	chr9:108214600-108221000	Weak transcription	Small Intestine	intestine
37	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
38	chr9:108217200-108220400	Weak transcription	HepG2	liver
39	chr9:108217800-108220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:108217800-108220000	Weak transcription	Gastric	stomach
41	chr9:108218000-108220000	Weak transcription	Psoas Muscle	Psoas
42	chr9:108218200-108220200	Enhancers	Fetal Heart	heart
43	chr9:108218400-108219800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr9:108218400-108220000	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr9:108218800-108221200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:108218800-108221200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr9:108219000-108220000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:108219000-108220000	Weak transcription	NHDF-Ad	bronchial
49	chr9:108219000-108220600	Weak transcription	Aorta	Aorta
50	chr9:108219000-108221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links