Variant report

Variant	nsv613211
Chromosome Location	chr9:6664282-6706693
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1960)
CpG islands
(count:796)
Chromatin interactive
region (count:113)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1960 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6667619-6667991	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6702813-6703015	K562	blood:	n/a	n/a
4	ARID3A	chr9:6683465-6683727	K562	blood:	n/a	n/a
5	ARID3A	chr9:6664541-6665413	HepG2	liver:	n/a	n/a
6	ARID3A	chr9:6667709-6667966	K562	blood:	n/a	n/a
7	ARID3A	chr9:6673778-6673994	HepG2	liver:	n/a	n/a
8	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
9	ATF1	chr9:6683332-6683728	K562	blood:	n/a	n/a
10	ATF2	chr9:6703874-6704656	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr9:6703987-6704605	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr9:6703375-6704596	GM12878	blood:	n/a	n/a
13	ATF2	chr9:6683034-6683764	GM12878	blood:	n/a	n/a
14	ATF2	chr9:6683093-6683781	GM12878	blood:	n/a	n/a
15	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
17	ATF2	chr9:6673244-6673922	GM12878	blood:	n/a	n/a
18	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
20	ATF2	chr9:6689798-6690646	GM12878	blood:	n/a	n/a
21	ATF2	chr9:6703839-6704309	GM12878	blood:	n/a	n/a
22	ATF3	chr9:6703940-6704551	HepG2	liver:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
23	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
24	ATF3	chr9:6703937-6704598	GM12878	blood:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
25	ATF3	chr9:6664294-6664873	A549	lung:	n/a	n/a
26	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
27	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
28	ATF3	chr9:6703946-6704478	A549	lung:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
29	ATF3	chr9:6681111-6681416	H1-hESC	embryonic stem cell:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
30	ATF3	chr9:6704051-6704512	A549	lung:	n/a	chr9:6704101-6704111
31	ATF3	chr9:6704052-6704432	HepG2	liver:	n/a	chr9:6704101-6704111
32	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
33	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
34	ATF3	chr9:6681117-6681516	K562	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
35	ATF3	chr9:6681561-6681854	K562	blood:	n/a	chr9:6681721-6681741
36	ATF3	chr9:6703972-6704567	H1-hESC	embryonic stem cell:	n/a	chr9:6704101-6704111
37	ATF3	chr9:6704072-6704352	GM12878	blood:	n/a	chr9:6704101-6704111
38	ATF3	chr9:6664488-6664934	A549	lung:	n/a	n/a
39	ATF3	chr9:6703900-6704493	H1-hESC	embryonic stem cell:	n/a	chr9:6703954-6703967 chr9:6704101-6704111
40	BACH1	chr9:6684511-6684834	H1-hESC	embryonic stem cell:	n/a	n/a
41	BACH1	chr9:6667638-6667964	H1-hESC	embryonic stem cell:	n/a	n/a
42	BACH1	chr9:6680705-6681903	H1-hESC	embryonic stem cell:	n/a	n/a
43	BACH1	chr9:6703514-6704556	H1-hESC	embryonic stem cell:	n/a	n/a
44	BATF	chr9:6683125-6683562	GM12878	blood:	n/a	n/a
45	BATF	chr9:6683124-6683704	GM12878	blood:	n/a	n/a
46	BATF	chr9:6681559-6681850	GM12878	blood:	n/a	n/a
47	BCL11A	chr9:6673323-6673715	GM12878	blood:	n/a	n/a
48	BCL11A	chr9:6683034-6683594	GM12878	blood:	n/a	n/a
49	BCL11A	chr9:6673395-6673768	GM12878	blood:	n/a	n/a
50	BCL11A	chr9:6683109-6683435	GM12878	blood:	n/a	n/a

(count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6681608-6681658	SAEC	small airway:	n/a
2	chr9:6700000-6700050	Jurkat	blood:	n/a
3	chr9:6680932-6680982	HCPEpiC	choroid plexus:	n/a
4	chr9:6681608-6681658	SAEC	small airway:	n/a
5	chr9:6700000-6700050	Jurkat	blood:	n/a
6	chr9:6680932-6680982	HCPEpiC	choroid plexus:	n/a
7	chr9:6704574-6704624	GM19239	blood:	n/a
8	chr9:6703605-6703655	SKMC	muscle:	n/a
9	chr9:6683274-6683324	Jurkat	blood:	n/a
10	chr9:6680800-6680850	SAEC	small airway:	n/a
11	chr9:6681559-6681609	NHBE	bronchial:	n/a
12	chr9:6681559-6681609	AoSMC	blood vessel:	n/a
13	chr9:6706149-6706199	HNPCEpiC	eye:	n/a
14	chr9:6704178-6704228	PrEC	prostate:	n/a
15	chr9:6683274-6683324	AG09319	gingival:	n/a
16	chr9:6706149-6706199	H1-hESC	embryonic stem cell:	embryo
17	chr9:6681559-6681609	HAEpiC	amniotic membrane:	n/a
18	chr9:6680800-6680850	NHBE	bronchial:	n/a
19	chr9:6704574-6704624	SK-N-SH_RA	brain:	n/a
20	chr9:6680932-6680982	BJ	skin:	n/a
21	chr9:6683274-6683324	AG04450	lung:	fetal
22	chr9:6704178-6704228	HMEC	breast:	n/a
23	chr9:6680800-6680850	MCF-7	breast:	n/a
24	chr9:6704178-6704228	NHBE	bronchial:	n/a
25	chr9:6681415-6681465	T-47D	breast:	n/a
26	chr9:6680800-6680850	GM06990	blood:	n/a
27	chr9:6680932-6680982	HRPEpiC	eye:	n/a
28	chr9:6704178-6704228	IMR90	lung:	fetal
29	chr9:6680932-6680982	BE2_C	brain:	n/a
30	chr9:6703605-6703655	T-47D	breast:	n/a
31	chr9:6704178-6704228	HIPEpiC	eye:	n/a
32	chr9:6681608-6681658	NT2-D1	testis:	n/a
33	chr9:6681608-6681658	AG04450	lung:	fetal
34	chr9:6680800-6680850	SK-N-SH_RA	brain:	n/a
35	chr9:6703605-6703655	NT2-D1	testis:	n/a
36	chr9:6681415-6681465	SAEC	small airway:	n/a
37	chr9:6680923-6680973	SAEC	small airway:	n/a
38	chr9:6706149-6706199	AG10803	skin:	n/a
39	chr9:6683274-6683324	LNCaP	prostate:	n/a
40	chr9:6683274-6683324	HAEpiC	amniotic membrane:	n/a
41	chr9:6681415-6681465	MCF-7	breast:	n/a
42	chr9:6703949-6703999	HUVEC	blood vessel:	n/a
43	chr9:6680932-6680982	AG10803	skin:	n/a
44	chr9:6683274-6683324	AG04449	skin:	fetal
45	chr9:6681415-6681465	BE2_C	brain:	n/a
46	chr9:6681559-6681609	SK-N-SH	brain:	n/a
47	chr9:6681559-6681609	RPTEC	kidney:	n/a
48	chr9:6680800-6680850	U87	brain:	n/a
49	chr9:6706149-6706199	U87	brain:	n/a
50	chr9:6704574-6704624	HPAEpiC	pulmonary alveolar:	n/a

(count:113 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:6624229..6626158-chr9:6679853..6681433,2	MCF-7	breast:
2	chr9:6638714..6640466-chr9:6681026..6683863,2	MCF-7	breast:
3	chr9:6680773..6682962-chr9:6702713..6705458,5	MCF-7	breast:
4	chr9:6656639..6659482-chr9:6662780..6664665,3	MCF-7	breast:
5	chr9:6680439..6681279-chr9:136024589..136025226,2	NB4	blood:
6	chr13:52026416..52027352-chr9:6680809..6681352,2	NB4	blood:
7	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
8	chr9:6671740..6675372-chr9:6679558..6683814,6	MCF-7	breast:
9	chr9:6680639..6682955-chr9:6686831..6689135,2	MCF-7	breast:
10	chr17:7834821..7835603-chr9:6681148..6681758,2	NB4	blood:
11	chr9:6667615..6669315-chr9:6679006..6681464,2	K562	blood:
12	chr19:10612863..10613478-chr9:6680803..6681416,2	NB4	blood:
13	chr9:6354241..6354767-chr9:6667295..6668097,2	K562	blood:
14	chr9:6680283..6682960-chr9:6684797..6686808,2	MCF-7	breast:
15	chr9:6667615..6669315-chr9:6679006..6681464,2	K562	blood:
16	chr9:6623651..6625727-chr9:6679924..6681530,2	MCF-7	breast:
17	chr5:166255725..166256712-chr9:6703618..6704233,2	MCF-7	breast:
18	chr19:10443689..10444474-chr9:6681327..6681946,2	NB4	blood:
19	chr16:2524772..2525666-chr9:6680779..6681752,2	NB4	blood:
20	chr9:6615911..6617907-chr9:6681150..6682978,2	MCF-7	breast:
21	chr17:19551151..19551842-chr9:6681285..6682068,2	Hela-S3	cervix:
22	chr18:812828..813642-chr9:6680571..6681106,2	NB4	blood:
23	chr9:6679678..6684692-chr9:6754924..6762822,14	K562	blood:
24	chr9:6681451..6683371-chr9:6705864..6707945,2	MCF-7	breast:
25	chr9:6588736..6590830-chr9:6680231..6682699,2	MCF-7	breast:
26	chr9:6686168..6688293-chr9:6706461..6708275,2	MCF-7	breast:
27	chr9:6533272..6535800-chr9:6681069..6683891,2	K562	blood:
28	chr19:47734079..47734823-chr9:6681251..6681785,2	NB4	blood:
29	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
30	chr9:6662765..6664429-chr9:6666367..6668579,2	MCF-7	breast:
31	chr9:6690617..6692723-chr9:6701607..6704265,2	MCF-7	breast:
32	chr9:6680087..6683627-chr9:6714158..6717601,7	MCF-7	breast:
33	chr9:6679508..6683848-chr9:6755336..6760985,13	K562	blood:
34	chr9:6680134..6683245-chr9:6684622..6687341,3	K562	blood:
35	chr1:17230975..17231846-chr9:6681106..6681762,2	NB4	blood:
36	chr2:232530459..232531365-chr9:6680756..6681601,2	Hela-S3	cervix:
37	chr1:224575474..224576206-chr9:6680757..6681693,2	NB4	blood:
38	chr9:6685820..6688107-chr9:6699923..6703311,3	MCF-7	breast:
39	chr9:6639721..6642651-chr9:6680043..6682884,2	MCF-7	breast:
40	chr9:6642994..6646042-chr9:6680317..6683201,5	MCF-7	breast:
41	chr5:166256227..166256733-chr9:6703705..6704305,2	MCF-7	breast:
42	chr15:65596841..65597490-chr9:6680775..6681724,2	NB4	blood:
43	chr7:148892469..148893164-chr9:6680524..6681026,2	NB4	blood:
44	chr9:6674752..6678702-chr9:6679022..6682873,7	K562	blood:
45	chr9:6681100..6681879-chrX:153626091..153627039,2	NB4	blood:
46	chr19:42363580..42364427-chr9:6681324..6682242,2	NB4	blood:
47	chr9:6698340..6700152-chr9:6701946..6704339,2	MCF-7	breast:
48	chr9:6644301..6646741-chr9:6667847..6669482,2	MCF-7	breast:
49	chr11:6255893..6256668-chr9:6681534..6682304,2	HCT-116	colon:
50	chr9:6352849..6355311-chr9:6679612..6682199,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-2	chr9:6704179-6704343	XLOC_007275
2	lnc-KDM4C-2	chr9:6704453-6704653	XLOC_007275
3	lnc-KDM4C-5	chr9:6670425-6670635	ENSG00000236924.1
4	lnc-KDM4C-2	chr9:6704339-6704366	NONHSAT130152
5	lnc-KDM4C-5	chr9:6669544-6669728	ENSG00000236924.1
6	lnc-KDM4C-12	chr9:6675284-6675614	NONHSAT130149
7	lnc-KDM4C-2	chr9:6704406-6704653	NONHSAT130153
8	lnc-KDM4C-2	chr9:6704471-6704653	XLOC_007275
9	lnc-KDM4C-11	chr9:6694471-6694653	NONHSAT130150
10	lnc-KDM4C-1	chr9:6706548-6706616	NONHSAT130154
11	lnc-KDM4C-2	chr9:6704453-6704977	NONHSAT130152
12	lnc-KDM4C-5	chr9:6669544-6669728	NONHSAT130145
13	lnc-KDM4C-5	chr9:6670425-6670690	NONHSAT130145
14	lnc-KDM4C-11	chr9:6697542-6697780	NONHSAT130150

No data

Variant related genes	Relation type
RNF2P1	TF binding region
ENSG00000229611	TF binding region
ENSG00000232946	TF binding region
RNF2P1	CpG island
ENSG00000229611	CpG island
ENSG00000232946	CpG island
ENSG00000178445	chromatin interactions
ENSG00000229057	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000170473	chromatin interactions
ENSG00000147854	chromatin interactions
ENSG00000266863	chromatin interactions
ENSG00000051009	chromatin interactions
ENSG00000170037	chromatin interactions
ENSG00000147403	chromatin interactions
ENSG00000177426	chromatin interactions
ENSG00000107036	chromatin interactions
ENSG00000170265	chromatin interactions
ENSG00000134602	chromatin interactions
ENSG00000273382	chromatin interactions
ENSG00000170043	chromatin interactions
ENSG00000225489	chromatin interactions
ENSG00000072210	chromatin interactions
ENSG00000272426	chromatin interactions
ENSG00000161847	chromatin interactions
ENSG00000215717	chromatin interactions
ENSG00000065357	chromatin interactions
ENSG00000236924	chromatin interactions
ENSG00000162065	chromatin interactions
ENSG00000197323	chromatin interactions
ENSG00000102786	chromatin interactions
ENSG00000231381	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000105327	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000132259	chromatin interactions
ENSG00000150768	chromatin interactions
ENSG00000160271	chromatin interactions
ENSG00000206147	chromatin interactions
ENSG00000173559	chromatin interactions
ENSG00000165115	chromatin interactions
ENSG00000273355	chromatin interactions
ENSG00000236778	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000101220	chromatin interactions
ENSG00000079999	chromatin interactions
ENSG00000232946	chromatin interactions
ENSG00000117308	chromatin interactions
ENSG00000229611	chromatin interactions
ENSG00000107077	chromatin interactions
NXT2	miRNA target sites
DNMT3A	miRNA target sites

Extended variants
information (count: 2236 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:2236 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2918182	chr9:6664282-6664283	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540844783	chr9:6664304-6664305	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543112887	chr9:6664306-6664307	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs144555919	chr9:6664312-6664313	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57860869	chr9:6664374-6664375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144319299	chr9:6664381-6664382	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs541595280	chr9:6664409-6664410	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs13297658	chr9:6664435-6664436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1755620	chr9:6664455-6664456	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs1755619	chr9:6664457-6664458	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs148474168	chr9:6664476-6664477	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111468361	chr9:6664521-6664522	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186041228	chr9:6664546-6664547	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373178412	chr9:6664552-6664553	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs552436997	chr9:6664553-6664554	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs570026076	chr9:6664577-6664578	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192094945	chr9:6664586-6664587	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183919920	chr9:6664647-6664648	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567731801	chr9:6664664-6664665	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs142692956	chr9:6664689-6664690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs9785308	chr9:6664700-6664701	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565639012	chr9:6664702-6664703	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1755618	chr9:6664708-6664709	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147446212	chr9:6664734-6664735	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs575923295	chr9:6664741-6664742	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs188626867	chr9:6664752-6664753	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9785246	chr9:6664753-6664754	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs573672220	chr9:6664767-6664768	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs117931505	chr9:6664785-6664786	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559940518	chr9:6664847-6664848	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1658970	chr9:6664853-6664854	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs545689077	chr9:6664869-6664870	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs386732135	chr9:6664901-6664902	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1624139	chr9:6664902-6664903	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs549348050	chr9:6664906-6664907	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192290531	chr9:6664975-6664976	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs139912734	chr9:6664984-6664985	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs1658972	chr9:6665010-6665011	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574403194	chr9:6665012-6665013	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7031765	chr9:6665041-6665042	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs551293303	chr9:6665046-6665047	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs569919782	chr9:6665057-6665058	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs182455148	chr9:6665070-6665071	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs555340529	chr9:6665072-6665073	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1658973	chr9:6665097-6665098	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145442223	chr9:6665178-6665179	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35480804	chr9:6665190-6665191	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs10975722	chr9:6665216-6665217	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs60969364	chr9:6665217-6665218	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs545601443	chr9:6665242-6665243	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Dyslexia	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Schizophrenia	21346763	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1162 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6648200-6670400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:6648400-6669400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr9:6648400-6680400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr9:6648600-6677600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:6648600-6680400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:6648800-6680400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:6654000-6669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:6657200-6669400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:6657200-6669800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:6657200-6680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:6657400-6664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:6657400-6680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:6657400-6680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:6658600-6667600	Weak transcription	GM12878-XiMat	blood
15	chr9:6659200-6664600	Weak transcription	HUVEC	blood vessel
16	chr9:6664200-6664600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:6664200-6664800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:6664200-6664800	Flanking Active TSS	Liver	Liver
19	chr9:6664200-6665000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:6664200-6665000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:6664200-6665000	Enhancers	Stomach Mucosa	stomach
22	chr9:6664200-6665200	Enhancers	Placenta	Placenta
23	chr9:6664200-6665200	Enhancers	Gastric	stomach
24	chr9:6664200-6665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:6664200-6665400	Enhancers	Pancreas	Pancrea
26	chr9:6664200-6665400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr9:6664200-6665800	Enhancers	Hela-S3	cervix
28	chr9:6664200-6665800	Flanking Active TSS	HepG2	liver
29	chr9:6664200-6666000	Enhancers	Fetal Intestine Large	intestine
30	chr9:6664200-6666000	Enhancers	Fetal Intestine Small	intestine
31	chr9:6664200-6666000	Flanking Active TSS	A549	lung
32	chr9:6664400-6664800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:6664400-6664800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:6664600-6665000	Enhancers	HUVEC	blood vessel
35	chr9:6664600-6665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr9:6664600-6680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr9:6664800-6665400	Enhancers	Liver	Liver
38	chr9:6664800-6680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:6665200-6677800	Weak transcription	Placenta	Placenta
40	chr9:6665400-6665600	Flanking Active TSS	Liver	Liver
41	chr9:6665400-6677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:6665600-6665800	Enhancers	Liver	Liver
43	chr9:6665800-6666000	Flanking Active TSS	Liver	Liver
44	chr9:6665800-6666600	Enhancers	HepG2	liver
45	chr9:6665800-6667600	Weak transcription	Hela-S3	cervix
46	chr9:6666000-6666200	Enhancers	A549	lung
47	chr9:6666000-6666600	Enhancers	Liver	Liver
48	chr9:6666000-6667200	Weak transcription	Fetal Intestine Large	intestine
49	chr9:6666200-6673000	Weak transcription	A549	lung
50	chr9:6666600-6667200	Weak transcription	Liver	Liver

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