Variant report

Variant	nsv615988
Chromosome Location	chr9:139847481-139869914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:309)
CpG islands
(count:366)
Chromatin interactive
region (count:76)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:139860638-139860838	K562	blood:	n/a	n/a
2	ATF3	chr9:139860619-139860926	K562	blood:	n/a	n/a
3	BHLHE40	chr9:139860654-139860861	K562	blood:	n/a	n/a
4	BHLHE40	chr9:139858774-139859054	K562	blood:	n/a	n/a
5	BHLHE40	chr9:139849517-139849530	K562	blood:	n/a	n/a
6	BRCA1	chr9:139858852-139859095	Hela-S3	cervix:	n/a	n/a
7	CBX3	chr9:139858778-139859015	K562	blood:	n/a	n/a
8	CBX3	chr9:139858750-139859077	K562	blood:	n/a	n/a
9	CCNT2	chr9:139858752-139859086	K562	blood:	n/a	chr9:139858889-139858898
10	CEBPB	chr9:139866295-139866381	HepG2	liver:	n/a	n/a
11	CEBPB	chr9:139858759-139859099	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr9:139856619-139856717	K562	blood:	n/a	n/a
13	CEBPB	chr9:139856618-139856682	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr9:139862071-139862204	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr9:139862048-139862229	IMR90	lung:	n/a	n/a
16	CEBPB	chr9:139862151-139862199	K562	blood:	n/a	n/a
17	CHD2	chr9:139858786-139858938	K562	blood:	n/a	n/a
18	CHD2	chr9:139869363-139869689	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr9:139858694-139859071	Hela-S3	cervix:	n/a	n/a
20	CHD2	chr9:139860530-139860531	K562	blood:	n/a	n/a
21	CREB1	chr9:139863490-139863951	A549	lung:	n/a	n/a
22	CTCF	chr9:139851442-139851460	GM19239	blood:	n/a	n/a
23	CTCF	chr9:139856006-139856051	LNCaP	prostate:	n/a	n/a
24	CTCF	chr9:139851606-139851683	Medullo	brain:	n/a	n/a
25	CTCF	chr9:139869780-139869930	HepG2	liver:	n/a	chr9:139869823-139869831
26	CTCF	chr9:139857497-139857546	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:139869760-139869910	AoAF	blood vessel:	n/a	chr9:139869823-139869831
28	CTCF	chr9:139858880-139859030	NHEK	skin:	n/a	n/a
29	CTCF	chr9:139856970-139857030	K562	blood:	n/a	n/a
30	CTCF	chr9:139856991-139856998	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr9:139850803-139850853	K562	blood:	n/a	chr9:139850818-139850831 chr9:139850816-139850834
32	CTCF	chr9:139855980-139856130	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr9:139857500-139857562	MCF-7	breast:	n/a	n/a
34	CTCF	chr9:139860972-139861082	Spleen_OC	spleen:	n/a	n/a
35	CTCF	chr9:139859480-139859630	K562	blood:	n/a	n/a
36	CTCF	chr9:139851408-139851418	GM19239	blood:	n/a	n/a
37	CTCF	chr9:139869860-139870010	WERI-Rb-1	eye:	n/a	chr9:139869963-139869971
38	CTCF	chr9:139856957-139857030	GM19240	blood:	n/a	n/a
39	CTCF	chr9:139855940-139856090	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr9:139856000-139856150	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr9:139851479-139851523	GM19239	blood:	n/a	n/a
42	E2F6	chr9:139860641-139860926	K562	blood:	n/a	n/a
43	E2F6	chr9:139859571-139859835	K562	blood:	n/a	n/a
44	E2F6	chr9:139858679-139859043	K562	blood:	n/a	chr9:139858891-139858901
45	EGR1	chr9:139851033-139851314	K562	blood:	n/a	n/a
46	EGR1	chr9:139859744-139860030	K562	blood:	n/a	n/a
47	EGR1	chr9:139851678-139852081	K562	blood:	n/a	n/a
48	EGR1	chr9:139858472-139859404	HCT-116	colon:	n/a	chr9:139858891-139858904 chr9:139858891-139858904 chr9:139858891-139858904
49	EGR1	chr9:139858711-139859057	K562	blood:	n/a	chr9:139858891-139858904 chr9:139858891-139858904 chr9:139858891-139858904
50	EGR1	chr9:139859226-139859645	K562	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:139847558-139847608	HNPCEpiC	eye:	n/a
2	chr9:139860765-139860815	GM12892	blood:	n/a
3	chr9:139860765-139860815	Hela-S3	cervix:	n/a
4	chr9:139850608-139850658	MCF10A-Er-Src	breast:	n/a
5	chr9:139859096-139859146	HCT-116	colon:	n/a
6	chr9:139859096-139859146	HepG2	liver:	n/a
7	chr9:139860765-139860815	NHDF-neo	bronchial:	n/a
8	chr9:139859096-139859146	MCF-7	breast:	n/a
9	chr9:139848045-139848095	NT2-D1	testis:	n/a
10	chr9:139847558-139847608	HIPEpiC	eye:	n/a
11	chr9:139850608-139850658	HCM	heart:	n/a
12	chr9:139850608-139850658	SK-N-SH_RA	brain:	n/a
13	chr9:139848045-139848095	HCPEpiC	choroid plexus:	n/a
14	chr9:139847558-139847608	NHDF-neo	bronchial:	n/a
15	chr9:139860765-139860815	HCM	heart:	n/a
16	chr9:139850608-139850658	GM12891	blood:	n/a
17	chr9:139847558-139847608	U87	brain:	n/a
18	chr9:139850608-139850658	K562	blood:	n/a
19	chr9:139847558-139847608	HCPEpiC	choroid plexus:	n/a
20	chr9:139847558-139847608	IMR90	lung:	fetal
21	chr9:139859096-139859146	ProgFib	skin:	n/a
22	chr9:139859471-139859521	ECC-1	luminal epithelium:	n/a
23	chr9:139850608-139850658	AG10803	skin:	n/a
24	chr9:139859471-139859521	Hela-S3	cervix:	n/a
25	chr9:139860765-139860815	MCF-7	breast:	n/a
26	chr9:139848045-139848095	H1-hESC	embryonic stem cell:	embryo
27	chr9:139859096-139859146	H1-hESC	embryonic stem cell:	embryo
28	chr9:139850608-139850658	HRCEpiC	kidney:	n/a
29	chr9:139850608-139850658	H1-hESC	embryonic stem cell:	embryo
30	chr9:139848045-139848095	SK-N-SH	brain:	n/a
31	chr9:139848045-139848095	HRCEpiC	kidney:	n/a
32	chr9:139850608-139850658	GM12892	blood:	n/a
33	chr9:139859471-139859521	K562	blood:	n/a
34	chr9:139850608-139850658	ECC-1	luminal epithelium:	n/a
35	chr9:139859471-139859521	AG09319	gingival:	n/a
36	chr9:139847558-139847608	HCM	heart:	n/a
37	chr9:139859096-139859146	PANC-1	pancreas:	n/a
38	chr9:139860765-139860815	NH-A	brain:	n/a
39	chr9:139850608-139850658	GM06990	blood:	n/a
40	chr9:139860765-139860815	HCPEpiC	choroid plexus:	n/a
41	chr9:139850608-139850658	HEK293	kidney:	embryo
42	chr9:139859096-139859146	HMEC	breast:	n/a
43	chr9:139848045-139848095	HRPEpiC	eye:	n/a
44	chr9:139847558-139847608	NT2-D1	testis:	n/a
45	chr9:139847558-139847608	BJ	skin:	n/a
46	chr9:139850608-139850658	HMEC	breast:	n/a
47	chr9:139859096-139859146	SKMC	muscle:	n/a
48	chr9:139859471-139859521	HCM	heart:	n/a
49	chr9:139859471-139859521	HEK293	kidney:	embryo
50	chr9:139847558-139847608	MCF10A-Er-Src	breast:	n/a

(count:76 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:139857596..139860333-chr9:139872704..139876540,3	MCF-7	breast:
2	chr9:139850179..139852005-chr9:139888667..139891050,2	MCF-7	breast:
3	chr9:139857666..139860662-chr9:139923222..139925390,3	K562	blood:
4	chr9:139856986..139859547-chr9:139885105..139886814,2	MCF-7	breast:
5	chr9:139842616..139844727-chr9:139858892..139860577,2	MCF-7	breast:
6	chr9:139859218..139862030-chr9:139862980..139865170,3	K562	blood:
7	chr9:139854671..139856508-chr9:139856850..139859518,3	K562	blood:
8	chr9:139845596..139853954-chr9:139854688..139861084,10	K562	blood:
9	chr9:139839312..139841565-chr9:139858162..139860949,2	K562	blood:
10	chr9:139855888..139859011-chr9:139864515..139866807,3	MCF-7	breast:
11	chr9:139850061..139852190-chr9:139857168..139859196,2	MCF-7	breast:
12	chr9:139835281..139842012-chr9:139842308..139848601,13	K562	blood:
13	chr9:139847637..139849597-chr9:139859176..139861845,2	MCF-7	breast:
14	chr9:139854133..139855882-chr9:139858175..139860493,2	MCF-7	breast:
15	chr9:139856797..139861379-chr9:139867698..139872892,7	K562	blood:
16	chr9:139854133..139855882-chr9:139858175..139860493,2	MCF-7	breast:
17	chr9:139851916..139854622-chr9:139944503..139947387,2	K562	blood:
18	chr9:139836188..139848313-chr9:139883522..139894647,40	MCF-7	breast:
19	chr9:139850061..139852190-chr9:139857168..139859196,2	MCF-7	breast:
20	chr9:139849727..139851420-chr9:139864037..139866854,2	MCF-7	breast:
21	chr9:139849578..139851272-chr9:139885199..139887273,2	MCF-7	breast:
22	chr9:139842440..139845608-chr9:139845661..139851377,6	K562	blood:
23	chr9:139855991..139858904-chr9:139871046..139873935,4	K562	blood:
24	chr9:139846781..139851560-chr9:139853266..139856441,7	MCF-7	breast:
25	chr9:139859481..139862147-chr9:139877787..139879524,2	MCF-7	breast:
26	chr9:139853786..139856538-chr9:139857353..139861977,5	K562	blood:
27	chr9:139850465..139853578-chr9:139856402..139858921,3	K562	blood:
28	chr9:139855524..139858037-chr9:139914599..139917753,3	K562	blood:
29	chr9:139860300..139861956-chr9:139919009..139921560,2	K562	blood:
30	chr9:139835507..139852162-chr9:139884980..139895056,54	MCF-7	breast:
31	chr9:139868220..139870028-chr9:139874031..139876030,2	MCF-7	breast:
32	chr9:139841586..139844686-chr9:139854675..139858745,4	MCF-7	breast:
33	chr9:139849027..139851788-chr9:139867721..139869789,2	K562	blood:
34	chr9:139859627..139863441-chr9:139865305..139867186,3	K562	blood:
35	chr9:139843021..139845836-chr9:139846843..139848545,2	K562	blood:
36	chr9:139839168..139840906-chr9:139862731..139865227,2	MCF-7	breast:
37	chr9:139844430..139846509-chr9:139867004..139868597,2	MCF-7	breast:
38	chr9:139869140..139871769-chr9:139871885..139873723,2	MCF-7	breast:
39	chr9:139843163..139846708-chr9:139847303..139850951,4	MCF-7	breast:
40	chr9:139855888..139859011-chr9:139864515..139866807,3	MCF-7	breast:
41	chr9:139857620..139860389-chr9:139862086..139864221,3	MCF-7	breast:
42	chr9:139849258..139851788-chr9:139867160..139869789,2	K562	blood:
43	chr9:139859339..139861379-chr9:139869933..139873332,3	K562	blood:
44	chr9:139620216..139622738-chr9:139863787..139865825,2	MCF-7	breast:
45	chr9:139687375..139689603-chr9:139852507..139855187,2	MCF-7	breast:
46	chr9:139839439..139840995-chr9:139854089..139856073,2	K562	blood:
47	chr9:139856034..139858765-chr9:139888330..139891492,3	MCF-7	breast:
48	chr9:139847114..139849036-chr9:139855937..139858825,2	MCF-7	breast:
49	chr9:139821142..139822888-chr9:139858248..139860855,2	K562	blood:
50	chr9:139836535..139839308-chr9:139856010..139858996,3	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCN12-1	chr9:139848606-139848707	NONHSAT135633
2	lnc-CLIC3-1	chr9:139869546-139869706	ENSG00000238268.1
3	lnc-PTGDS-1	chr9:139869847-139869938	ENSG00000238268.2
4	lnc-LCN12-1	chr9:139848069-139848231	NONHSAT135633
5	lnc-PTGDS-1	chr9:139869546-139869706	ENSG00000238268.2
6	lnc-LCN12-1	chr9:139849823-139849948	NONHSAT135628
7	lnc-LCN12-1	chr9:139849823-139849949	NONHSAT135633
8	lnc-LCN12-1	chr9:139849176-139849278	NONHSAT135634
9	lnc-LCN12-1	chr9:139848376-139848416	NONHSAT135633
10	lnc-LCN12-1	chr9:139849823-139849878	NONHSAT135634
11	lnc-LCN12-1	chr9:139849176-139849278	NONHSAT135633
12	lnc-CLIC3-1	chr9:139869847-139869938	ENSG00000238268.1
13	lnc-LCN12-1	chr9:139848086-139848707	NONHSAT135634

No data

Variant related genes	Relation type
LCN12	TF binding region
PTGDS	TF binding region
ENSG00000238268	TF binding region
C9orf141	TF binding region
LCN12	CpG island
PTGDS	CpG island
ENSG00000238268	CpG island
C9orf141	CpG island
ENSG00000127191	chromatin interactions
ENSG00000107331	chromatin interactions
ENSG00000180539	chromatin interactions
ENSG00000159069	chromatin interactions
ENSG00000169583	chromatin interactions
ENSG00000236394	chromatin interactions
ENSG00000214402	chromatin interactions
ENSG00000107317	chromatin interactions
ENSG00000198454	chromatin interactions
ENSG00000176919	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000148362	chromatin interactions
ENSG00000238268	chromatin interactions
ENSG00000184925	chromatin interactions

Extended variants
information (count: 1046 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1046 , 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	rs112444195	chr9:139847481-139847482	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs142112834	chr9:139847490-139847491	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs557881307	chr9:139847492-139847493	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs34635210	chr9:139847500-139847501	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs115757662	chr9:139847508-139847509	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs201549988	chr9:139847510-139847511	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs556303868	chr9:139847521-139847522	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs376495326	chr9:139847527-139847528	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs376399962	chr9:139847539-139847540	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs112013452	chr9:139847559-139847560	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs884218	chr9:139847570-139847571	Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs535772828	chr9:139847667-139847668	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs559961007	chr9:139847694-139847695	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs528812302	chr9:139847701-139847702	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs12238761	chr9:139847722-139847723	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs386739626	chr9:139847737-139847738	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs143606735	chr9:139847738-139847739	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs12238762	chr9:139847741-139847742	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs549500038	chr9:139847743-139847744	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs569739082	chr9:139847763-139847764	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs11145941	chr9:139847768-139847769	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs11145942	chr9:139847774-139847775	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs56393560	chr9:139847780-139847781	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs112866483	chr9:139847788-139847789	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs113708303	chr9:139847793-139847794	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs565502357	chr9:139847798-139847799	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs11145943	chr9:139847808-139847809	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs12004796	chr9:139847817-139847818	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs534494011	chr9:139847818-139847819	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs184631312	chr9:139847823-139847824	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs190305897	chr9:139847829-139847830	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs59044986	chr9:139847833-139847834	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs4880080	chr9:139847851-139847852	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs113034460	chr9:139847872-139847873	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs7862810	chr9:139847873-139847874	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs111447188	chr9:139847894-139847895	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs7874455	chr9:139847897-139847898	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs10781526	chr9:139847903-139847904	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs543113165	chr9:139847916-139847917	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs114830873	chr9:139847947-139847948	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs112546462	chr9:139847965-139847966	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs115723985	chr9:139848032-139848033	Weak transcription Enhancers Strong transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs545266315	chr9:139848049-139848050	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs565608729	chr9:139848050-139848051	Weak transcription Enhancers Strong transcription	CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs570321310	chr9:139848104-139848105	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs377252368	chr9:139848118-139848119	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs374461198	chr9:139848122-139848123	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
48	rs199975609	chr9:139848170-139848171	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
49	rs200380938	chr9:139848190-139848191	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
50	rs528969007	chr9:139848191-139848192	Weak transcription Enhancers Strong transcription	Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
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
Urothelial carcinoma	21177765	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	20435627	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
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Oral cancer	21386901	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Melanoma	18172304	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Kleefstra Syndrome	21538692	CNVD
Disorders of sex development	22290220	CNVD
Cancer	21183584	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Abnormal phenotypes	18644119	CNVD
Ovarian cancer	21720365	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Hepatocellular carcinoma	22174799	CNVD
Idiopathic chronic pancreatitis	21572526	CNVD
Kleefstra syndrome	22670141	CNVD
Schizophrenia	22241247	CNVD
9q deletion syndrome	16826528	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Non-small cell lung cancer	21829676	CNVD
Non-syndromic sensorineural hearing loss	19293338	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Mantle cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
Epilepsy	22083797	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139845000-139853600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr9:139845200-139847800	Enhancers	Right Ventricle	heart
3	chr9:139845200-139848200	Enhancers	Fetal Heart	heart
4	chr9:139845200-139848400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr9:139845200-139860200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr9:139845200-139860400	Weak transcription	Right Atrium	heart
7	chr9:139845400-139847600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr9:139845400-139847600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:139845400-139848400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:139845400-139849200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr9:139845400-139852800	Weak transcription	Thymus	Thymus
12	chr9:139845400-139853000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr9:139845400-139855400	Weak transcription	Gastric	stomach
14	chr9:139845400-139860200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:139845600-139849400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:139845600-139854000	Weak transcription	Pancreas	Pancrea
17	chr9:139846200-139852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr9:139846200-139860200	Weak transcription	Liver	Liver
19	chr9:139846600-139847600	Enhancers	Fetal Stomach	stomach
20	chr9:139846600-139852000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:139846800-139847800	Enhancers	Fetal Muscle Leg	muscle
22	chr9:139847000-139851000	Strong transcription	Fetal Intestine Small	intestine
23	chr9:139847200-139847600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:139847200-139847600	Weak transcription	Fetal Intestine Large	intestine
25	chr9:139847200-139847600	Enhancers	Ovary	ovary
26	chr9:139847200-139847800	Weak transcription	HSMMtube	muscle
27	chr9:139847200-139853400	Weak transcription	Spleen	Spleen
28	chr9:139847400-139847600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:139847600-139848600	Strong transcription	Fetal Intestine Large	intestine
30	chr9:139847600-139849400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:139847800-139855600	Weak transcription	Right Ventricle	heart
32	chr9:139848200-139849400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:139848200-139857400	Weak transcription	Fetal Heart	heart
34	chr9:139848400-139848800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr9:139848400-139849800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr9:139848600-139850800	Weak transcription	Fetal Intestine Large	intestine
37	chr9:139848800-139849200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:139849200-139849400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:139849200-139849600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr9:139849400-139849600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:139849400-139849600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:139849400-139849600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr9:139849400-139849600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr9:139849400-139850200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr9:139849600-139849800	Enhancers	HSMMtube	muscle
46	chr9:139849600-139852400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:139849600-139852800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:139849600-139854000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr9:139849800-139850000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:139850000-139850200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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