Variant report

Variant	nsv1022370
Chromosome Location	chr9:6663786-6682871
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1149)
CpG islands
(count:368)
Chromatin interactive
region (count:86)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1149 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:6667709-6667966	K562	blood:	n/a	n/a
2	ARID3A	chr9:6667619-6667991	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:6673778-6673994	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:6664541-6665413	HepG2	liver:	n/a	n/a
5	ARID3A	chr9:6680666-6681844	HepG2	liver:	n/a	n/a
6	ATF1	chr9:6681148-6681907	K562	blood:	n/a	n/a
7	ATF2	chr9:6680648-6682329	GM12878	blood:	n/a	n/a
8	ATF2	chr9:6681171-6681904	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr9:6680902-6681966	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr9:6673244-6673922	GM12878	blood:	n/a	n/a
11	ATF2	chr9:6680771-6682208	GM12878	blood:	n/a	n/a
12	ATF3	chr9:6681117-6681516	K562	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
13	ATF3	chr9:6681099-6681405	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
14	ATF3	chr9:6681128-6681460	HepG2	liver:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
15	ATF3	chr9:6681132-6681923	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
16	ATF3	chr9:6680937-6681651	GM12878	blood:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
17	ATF3	chr9:6664488-6664934	A549	lung:	n/a	n/a
18	ATF3	chr9:6681111-6681416	H1-hESC	embryonic stem cell:	n/a	chr9:6681281-6681290 chr9:6681270-6681290
19	ATF3	chr9:6681031-6681807	A549	lung:	n/a	chr9:6681281-6681290 chr9:6681270-6681290 chr9:6681721-6681741
20	ATF3	chr9:6681561-6681854	K562	blood:	n/a	chr9:6681721-6681741
21	ATF3	chr9:6664294-6664873	A549	lung:	n/a	n/a
22	BACH1	chr9:6680705-6681903	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr9:6667638-6667964	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr9:6681559-6681850	GM12878	blood:	n/a	n/a
25	BCL11A	chr9:6673323-6673715	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:6673395-6673768	GM12878	blood:	n/a	n/a
27	BCL3	chr9:6680326-6681960	A549	lung:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
28	BCL3	chr9:6664480-6665034	A549	lung:	n/a	n/a
29	BCL3	chr9:6680846-6682117	GM12878	blood:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
30	BCL3	chr9:6680653-6681964	A549	lung:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
31	BCL3	chr9:6664426-6665297	A549	lung:	n/a	chr9:6665033-6665042
32	BCLAF1	chr9:6680560-6682062	GM12878	blood:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
33	BCLAF1	chr9:6682559-6682960	GM12878	blood:	n/a	n/a
34	BCLAF1	chr9:6680608-6682041	GM12878	blood:	n/a	chr9:6681460-6681469 chr9:6681205-6681218
35	BCLAF1	chr9:6667616-6668061	GM12878	blood:	n/a	n/a
36	BHLHE40	chr9:6680676-6682005	K562	blood:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
37	BHLHE40	chr9:6680702-6681933	HepG2	liver:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
38	BHLHE40	chr9:6676401-6676848	GM12878	blood:	n/a	n/a
39	BHLHE40	chr9:6681076-6681903	A549	lung:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
40	BHLHE40	chr9:6680733-6681999	GM12878	blood:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
41	BHLHE40	chr9:6664329-6665171	HepG2	liver:	n/a	n/a
42	BHLHE40	chr9:6681131-6681486	HepG2	liver:	n/a	chr9:6681279-6681292 chr9:6681281-6681290 chr9:6681275-6681296 chr9:6681282-6681291 chr9:6681281-6681290 chr9:6681364-6681380 chr9:6681280-6681289
43	BHLHE40	chr9:6673357-6673800	GM12878	blood:	n/a	n/a
44	BRCA1	chr9:6664464-6664732	HepG2	liver:	n/a	n/a
45	BRCA1	chr9:6680881-6681913	GM12878	blood:	n/a	chr9:6681691-6681700
46	BRCA1	chr9:6680995-6681907	HepG2	liver:	n/a	chr9:6681691-6681700
47	BRCA1	chr9:6680986-6681928	H1-hESC	embryonic stem cell:	n/a	chr9:6681691-6681700
48	BRCA1	chr9:6664596-6664874	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr9:6680506-6681963	Hela-S3	cervix:	n/a	chr9:6681691-6681700
50	CBX3	chr9:6680820-6681925	K562	blood:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:6680932-6680982	SK-N-SH	brain:	n/a
2	chr9:6681415-6681465	T-47D	breast:	n/a
3	chr9:6680932-6680982	SK-N-SH	brain:	n/a
4	chr9:6681415-6681465	T-47D	breast:	n/a
5	chr9:6681559-6681609	HCM	heart:	n/a
6	chr9:6681608-6681658	HMEC	breast:	n/a
7	chr9:6680932-6680982	AG10803	skin:	n/a
8	chr9:6680932-6680982	ovcar-3	ovarian:	n/a
9	chr9:6681415-6681465	GM06990	blood:	n/a
10	chr9:6680932-6680982	HCM	heart:	n/a
11	chr9:6680800-6680850	GM06990	blood:	n/a
12	chr9:6680800-6680850	AG04449	skin:	fetal
13	chr9:6681608-6681658	BE2_C	brain:	n/a
14	chr9:6681608-6681658	BJ	skin:	n/a
15	chr9:6680923-6680973	AG10803	skin:	n/a
16	chr9:6680932-6680982	HEK293	kidney:	embryo
17	chr9:6681559-6681609	GM12891	blood:	n/a
18	chr9:6681559-6681609	AG04450	lung:	fetal
19	chr9:6680923-6680973	IMR90	lung:	fetal
20	chr9:6681608-6681658	HCPEpiC	choroid plexus:	n/a
21	chr9:6681415-6681465	HL-60	blood:	n/a
22	chr9:6680800-6680850	SKMC	muscle:	n/a
23	chr9:6680932-6680982	ProgFib	skin:	n/a
24	chr9:6681608-6681658	NHDF-neo	bronchial:	n/a
25	chr9:6680923-6680973	HL-60	blood:	n/a
26	chr9:6681608-6681658	ProgFib	skin:	n/a
27	chr9:6680800-6680850	SK-N-SH	brain:	n/a
28	chr9:6680800-6680850	NH-A	brain:	n/a
29	chr9:6681415-6681465	MCF-7	breast:	n/a
30	chr9:6681608-6681658	T-47D	breast:	n/a
31	chr9:6680800-6680850	A549	lung:	n/a
32	chr9:6680932-6680982	HRPEpiC	eye:	n/a
33	chr9:6681559-6681609	CMK	blood:	n/a
34	chr9:6681415-6681465	AG04449	skin:	fetal
35	chr9:6680932-6680982	U87	brain:	n/a
36	chr9:6680932-6680982	Jurkat	blood:	n/a
37	chr9:6680800-6680850	NHDF-neo	bronchial:	n/a
38	chr9:6681608-6681658	HL-60	blood:	n/a
39	chr9:6681608-6681658	H1-hESC	embryonic stem cell:	embryo
40	chr9:6680923-6680973	SAEC	small airway:	n/a
41	chr9:6681559-6681609	HEEpiC	esophagus:	n/a
42	chr9:6681608-6681658	NT2-D1	testis:	n/a
43	chr9:6680923-6680973	SK-N-SH	brain:	n/a
44	chr9:6681608-6681658	PFSK-1	brain:	n/a
45	chr9:6681608-6681658	HPAEpiC	pulmonary alveolar:	n/a
46	chr9:6681415-6681465	HAEpiC	amniotic membrane:	n/a
47	chr9:6681559-6681609	U87	brain:	n/a
48	chr9:6681608-6681658	HIPEpiC	eye:	n/a
49	chr9:6681415-6681465	NT2-D1	testis:	n/a
50	chr9:6680800-6680850	AG09319	gingival:	n/a

(count:86 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:148892469..148893164-chr9:6680524..6681026,2	NB4	blood:
2	chr1:17230975..17231846-chr9:6681106..6681762,2	NB4	blood:
3	chr9:6667615..6669315-chr9:6679006..6681464,2	K562	blood:
4	chr9:6679611..6682734-chr9:6683304..6686457,4	MCF-7	breast:
5	chr9:6681451..6683371-chr9:6705864..6707945,2	MCF-7	breast:
6	chr9:6667615..6669315-chr9:6679006..6681464,2	K562	blood:
7	chr19:10612863..10613478-chr9:6680803..6681416,2	NB4	blood:
8	chr9:6679678..6684692-chr9:6754924..6762822,14	K562	blood:
9	chr9:6680103..6682666-chr9:6784102..6786978,2	K562	blood:
10	chr1:109632782..109633775-chr9:6680831..6681750,2	NB4	blood:
11	chr9:6533272..6535800-chr9:6681069..6683891,2	K562	blood:
12	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
13	chr9:6623651..6625727-chr9:6679924..6681530,2	MCF-7	breast:
14	chr9:6665749..6668244-chr9:6673822..6675444,2	MCF-7	breast:
15	chr18:3449980..3450637-chr9:6680800..6681639,2	NB4	blood:
16	chr5:122758681..122759560-chr9:6680956..6681952,3	NB4	blood:
17	chr9:6681605..6682369-chrX:131157077..131157782,2	Hela-S3	cervix:
18	chr1:115053255..115053998-chr9:6681371..6681985,2	NB4	blood:
19	chr9:6680896..6681724-chr9:86535475..86536351,2	HCT-116	colon:
20	chr20:3747959..3748789-chr9:6681040..6681979,2	NB4	blood:
21	chr9:6680773..6682962-chr9:6702713..6705458,5	MCF-7	breast:
22	chr9:6523722..6524445-chr9:6667595..6668159,2	K562	blood:
23	chr9:6645871..6648933-chr9:6680309..6682972,3	MCF-7	breast:
24	chr9:6412059..6414733-chr9:6680071..6683116,4	K562	blood:
25	chr13:52026416..52027352-chr9:6680809..6681352,2	NB4	blood:
26	chr9:6680639..6682955-chr9:6686831..6689135,2	MCF-7	breast:
27	chr9:6354241..6354767-chr9:6667295..6668097,2	K562	blood:
28	chr9:6654607..6656764-chr9:6663214..6664911,2	K562	blood:
29	chr17:7834821..7835603-chr9:6681148..6681758,2	NB4	blood:
30	chr9:6411239..6413842-chr9:6680405..6682367,2	MCF-7	breast:
31	chr9:6680506..6681363-chrX:40943980..40944586,2	NB4	blood:
32	chr9:6584834..6585802-chr9:6667386..6668426,5	MCF-7	breast:
33	chr9:6674752..6678702-chr9:6679022..6682873,7	K562	blood:
34	chr17:19551151..19551842-chr9:6681285..6682068,2	Hela-S3	cervix:
35	chr9:6663663..6666675-chr9:6715678..6718421,3	MCF-7	breast:
36	chr9:6669357..6672334-chr9:6679173..6682127,3	MCF-7	breast:
37	chr19:10443689..10444474-chr9:6681327..6681946,2	NB4	blood:
38	chr9:6674523..6677794-chr9:6679022..6682789,5	K562	blood:
39	chr9:6624229..6626158-chr9:6679853..6681433,2	MCF-7	breast:
40	chr2:232530459..232531365-chr9:6680756..6681601,2	Hela-S3	cervix:
41	chr9:6672368..6674682-chr9:6676645..6678823,3	MCF-7	breast:
42	chr9:6680439..6681279-chr9:136024589..136025226,2	NB4	blood:
43	chr9:5627146..5630018-chr9:6679826..6681382,2	K562	blood:
44	chr9:6588736..6590830-chr9:6680231..6682699,2	MCF-7	breast:
45	chr9:6680134..6683245-chr9:6684622..6687341,3	K562	blood:
46	chr15:65596841..65597490-chr9:6680775..6681724,2	NB4	blood:
47	chr9:6352849..6355311-chr9:6679612..6682199,2	MCF-7	breast:
48	chr9:6663029..6667664-chr9:6679639..6683357,9	MCF-7	breast:
49	chr11:111895384..111895991-chr9:6681315..6682181,2	Hela-S3	cervix:
50	chr2:192542408..192543057-chr9:6680954..6681934,2	NB4	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-5	chr9:6670425-6670690	NONHSAT130145
2	lnc-KDM4C-12	chr9:6675284-6675614	NONHSAT130149
3	lnc-KDM4C-5	chr9:6669544-6669728	NONHSAT130145
4	lnc-KDM4C-5	chr9:6669544-6669728	ENSG00000236924.1
5	lnc-KDM4C-5	chr9:6670425-6670635	ENSG00000236924.1
6	lnc-KDM4C-13	chr9:6663657-6663792	NONHSAT130148

No data

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

Extended variants
information (count: 1021 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1021 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13292372	chr9:6663786-6663787	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538077884	chr9:6663802-6663803	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs13294392	chr9:6663812-6663813	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs150953125	chr9:6663836-6663837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140481533	chr9:6663839-6663840	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs34389938	chr9:6663852-6663853	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs186786705	chr9:6663881-6663882	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541724059	chr9:6663888-6663889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189222103	chr9:6663902-6663903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571737559	chr9:6663905-6663906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545379939	chr9:6663914-6663915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs563880869	chr9:6663933-6663934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs137886134	chr9:6663952-6663953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199766213	chr9:6663960-6663961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs12351586	chr9:6663964-6663965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1658968	chr9:6663968-6663969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1658969	chr9:6663980-6663981	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs562104141	chr9:6663987-6663988	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs529603097	chr9:6664003-6664004	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13298128	chr9:6664013-6664014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs185798448	chr9:6664025-6664026	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189774189	chr9:6664039-6664040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551789823	chr9:6664060-6664061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs570209162	chr9:6664088-6664089	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549784166	chr9:6664091-6664092	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs2578289	chr9:6664117-6664118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs556339452	chr9:6664147-6664148	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs1755621	chr9:6664150-6664151	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs539405051	chr9:6664165-6664166	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35826302	chr9:6664171-6664172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568134428	chr9:6664182-6664183	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs372657527	chr9:6664235-6664236	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs138666544	chr9:6664240-6664241	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs553816364	chr9:6664267-6664268	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs149306688	chr9:6664273-6664274	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs545442211	chr9:6664278-6664279	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs182667456	chr9:6664281-6664282	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs2918182	chr9:6664282-6664283	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs540844783	chr9:6664304-6664305	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs543112887	chr9:6664306-6664307	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144555919	chr9:6664312-6664313	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs57860869	chr9:6664374-6664375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144319299	chr9:6664381-6664382	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541595280	chr9:6664409-6664410	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs13297658	chr9:6664435-6664436	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs1755620	chr9:6664455-6664456	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1755619	chr9:6664457-6664458	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs148474168	chr9:6664476-6664477	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs111468361	chr9:6664521-6664522	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs186041228	chr9:6664546-6664547	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr9:6649800-6664200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:6654000-6669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:6657200-6669400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:6657200-6669800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:6657200-6680400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:6657400-6664400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr9:6657400-6680400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:6657400-6680400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr9:6658600-6667600	Weak transcription	GM12878-XiMat	blood
16	chr9:6659200-6664600	Weak transcription	HUVEC	blood vessel
17	chr9:6660800-6664200	Enhancers	Liver	Liver
18	chr9:6662000-6664200	Enhancers	HepG2	liver
19	chr9:6662800-6664200	Enhancers	A549	lung
20	chr9:6664200-6664600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:6664200-6664800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr9:6664200-6664800	Flanking Active TSS	Liver	Liver
23	chr9:6664200-6665000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:6664200-6665000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:6664200-6665000	Enhancers	Stomach Mucosa	stomach
26	chr9:6664200-6665200	Enhancers	Placenta	Placenta
27	chr9:6664200-6665200	Enhancers	Gastric	stomach
28	chr9:6664200-6665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr9:6664200-6665400	Enhancers	Pancreas	Pancrea
30	chr9:6664200-6665400	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr9:6664200-6665800	Enhancers	Hela-S3	cervix
32	chr9:6664200-6665800	Flanking Active TSS	HepG2	liver
33	chr9:6664200-6666000	Enhancers	Fetal Intestine Large	intestine
34	chr9:6664200-6666000	Enhancers	Fetal Intestine Small	intestine
35	chr9:6664200-6666000	Flanking Active TSS	A549	lung
36	chr9:6664400-6664800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:6664400-6664800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:6664600-6665000	Enhancers	HUVEC	blood vessel
39	chr9:6664600-6665200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:6664600-6680600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr9:6664800-6665400	Enhancers	Liver	Liver
42	chr9:6664800-6680000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:6665200-6677800	Weak transcription	Placenta	Placenta
44	chr9:6665400-6665600	Flanking Active TSS	Liver	Liver
45	chr9:6665400-6677800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:6665600-6665800	Enhancers	Liver	Liver
47	chr9:6665800-6666000	Flanking Active TSS	Liver	Liver
48	chr9:6665800-6666600	Enhancers	HepG2	liver
49	chr9:6665800-6667600	Weak transcription	Hela-S3	cervix
50	chr9:6666000-6666200	Enhancers	A549	lung

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