Variant report

Variant	nsv430382
Chromosome Location	chr11:46743135-46849360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1084)
CpG islands
(count:918)
Chromatin interactive
region (count:101)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:5)

(count:1084 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:46830444-46830643	K562	blood:	n/a	n/a
2	ARID3A	chr11:46830388-46830678	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:46848170-46848440	HepG2	liver:	n/a	n/a
4	BACH1	chr11:46847495-46847524	K562	blood:	n/a	n/a
5	BACH1	chr11:46843237-46843607	K562	blood:	n/a	n/a
6	BHLHE40	chr11:46848091-46848510	HepG2	liver:	n/a	chr11:46848381-46848397 chr11:46848384-46848400 chr11:46848373-46848389 chr11:46848440-46848456 chr11:46848378-46848394 chr11:46848372-46848388
7	BHLHE40	chr11:46760430-46760654	K562	blood:	n/a	n/a
8	BHLHE40	chr11:46843237-46843607	K562	blood:	n/a	n/a
9	BHLHE40	chr11:46848400-46848574	K562	blood:	n/a	chr11:46848440-46848456
10	BHLHE40	chr11:46848428-46848681	GM12878	blood:	n/a	chr11:46848440-46848456
11	BRCA1	chr11:46843234-46843609	GM12878	blood:	n/a	n/a
12	BRCA1	chr11:46843236-46843602	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr11:46848230-46848341	HepG2	liver:	n/a	n/a
14	CBX3	chr11:46747731-46748037	K562	blood:	n/a	n/a
15	CBX3	chr11:46830281-46830772	HCT-116	colon:	n/a	n/a
16	CBX3	chr11:46744282-46744716	K562	blood:	n/a	n/a
17	CBX3	chr11:46848205-46848635	K562	blood:	n/a	n/a
18	CBX3	chr11:46830347-46830714	K562	blood:	n/a	n/a
19	CBX3	chr11:46744326-46744574	K562	blood:	n/a	n/a
20	CCNT2	chr11:46848231-46848634	K562	blood:	n/a	n/a
21	CEBPB	chr11:46848186-46848371	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:46798460-46798816	IMR90	lung:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
23	CEBPB	chr11:46782090-46782099	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr11:46771753-46772011	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr11:46782031-46782373	HepG2	liver:	n/a	n/a
26	CEBPB	chr11:46782125-46782300	K562	blood:	n/a	n/a
27	CEBPB	chr11:46798463-46798747	H1-hESC	embryonic stem cell:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
28	CEBPB	chr11:46798464-46798814	HepG2	liver:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
29	CEBPB	chr11:46769511-46769609	HepG2	liver:	n/a	chr11:46769544-46769555
30	CEBPB	chr11:46771815-46771951	IMR90	lung:	n/a	n/a
31	CEBPB	chr11:46798485-46798816	A549	lung:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
32	CEBPB	chr11:46782033-46782344	IMR90	lung:	n/a	n/a
33	CEBPB	chr11:46778620-46778714	HepG2	liver:	n/a	chr11:46778677-46778688
34	CEBPB	chr11:46771719-46772049	HepG2	liver:	n/a	n/a
35	CEBPB	chr11:46781975-46782351	MCF-7	breast:	n/a	n/a
36	CEBPB	chr11:46843238-46843613	K562	blood:	n/a	chr11:46843405-46843416
37	CEBPB	chr11:46798412-46798916	A549	lung:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
38	CEBPB	chr11:46798458-46798777	A549	lung:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
39	CEBPB	chr11:46771686-46772054	MCF-7	breast:	n/a	n/a
40	CEBPB	chr11:46843401-46843612	HepG2	liver:	n/a	chr11:46843405-46843416
41	CEBPB	chr11:46778630-46778790	IMR90	lung:	n/a	chr11:46778677-46778688
42	CEBPB	chr11:46782029-46782342	A549	lung:	n/a	n/a
43	CEBPB	chr11:46798480-46798778	K562	blood:	n/a	chr11:46798626-46798637 chr11:46798624-46798637
44	CEBPB	chr11:46744828-46744995	HepG2	liver:	n/a	chr11:46744909-46744920
45	CHD1	chr11:46848314-46848463	GM12878	blood:	n/a	n/a
46	CHD2	chr11:46843238-46843605	K562	blood:	n/a	n/a
47	CHD2	chr11:46765662-46765819	HepG2	liver:	n/a	n/a
48	CHD2	chr11:46848273-46848544	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr11:46848551-46848694	K562	blood:	n/a	n/a
50	CHD2	chr11:46843235-46843603	Hela-S3	cervix:	n/a	n/a

(count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46748212-46748262	GM12891	blood:	n/a
2	chr11:46848389-46848439	AG10803	skin:	n/a
3	chr11:46848389-46848439	PrEC	prostate:	n/a
4	chr11:46748212-46748262	GM12891	blood:	n/a
5	chr11:46848389-46848439	AG10803	skin:	n/a
6	chr11:46848389-46848439	PrEC	prostate:	n/a
7	chr11:46765391-46765441	MCF10A-Er-Src	breast:	n/a
8	chr11:46818454-46818504	HRCEpiC	kidney:	n/a
9	chr11:46848312-46848362	AG09309	skin:	n/a
10	chr11:46748294-46748344	HepG2	liver:	n/a
11	chr11:46848312-46848362	Caco-2	colon:	n/a
12	chr11:46848442-46848492	SK-N-SH	brain:	n/a
13	chr11:46761054-46761104	HepG2	liver:	n/a
14	chr11:46820594-46820644	HEK293	kidney:	embryo
15	chr11:46784427-46784477	NT2-D1	testis:	n/a
16	chr11:46784275-46784325	AG09309	skin:	n/a
17	chr11:46748212-46748262	HCPEpiC	choroid plexus:	n/a
18	chr11:46848442-46848492	MCF-7	breast:	n/a
19	chr11:46744754-46744804	ProgFib	skin:	n/a
20	chr11:46784979-46785029	AG09319	gingival:	n/a
21	chr11:46748294-46748344	MCF10A-Er-Src	breast:	n/a
22	chr11:46820594-46820644	Caco-2	colon:	n/a
23	chr11:46748212-46748262	SKMC	muscle:	n/a
24	chr11:46787299-46787349	Caco-2	colon:	n/a
25	chr11:46848389-46848439	A549	lung:	n/a
26	chr11:46787299-46787349	AoSMC	blood vessel:	n/a
27	chr11:46818454-46818504	HL-60	blood:	n/a
28	chr11:46818454-46818504	HRPEpiC	eye:	n/a
29	chr11:46848312-46848362	NH-A	brain:	n/a
30	chr11:46848442-46848492	PrEC	prostate:	n/a
31	chr11:46784979-46785029	ProgFib	skin:	n/a
32	chr11:46748294-46748344	HNPCEpiC	eye:	n/a
33	chr11:46784275-46784325	HMEC	breast:	n/a
34	chr11:46820594-46820644	A549	lung:	n/a
35	chr11:46818454-46818504	GM19239	blood:	n/a
36	chr11:46787299-46787349	NHBE	bronchial:	n/a
37	chr11:46744754-46744804	AoSMC	blood vessel:	n/a
38	chr11:46848312-46848362	Hela-S3	cervix:	n/a
39	chr11:46848389-46848439	HEEpiC	esophagus:	n/a
40	chr11:46818454-46818504	AG10803	skin:	n/a
41	chr11:46787299-46787349	AG04450	lung:	fetal
42	chr11:46748212-46748262	HRPEpiC	eye:	n/a
43	chr11:46748212-46748262	BE2_C	brain:	n/a
44	chr11:46748294-46748344	SK-N-SH	brain:	n/a
45	chr11:46818454-46818504	CMK	blood:	n/a
46	chr11:46784979-46785029	SK-N-SH	brain:	n/a
47	chr11:46748294-46748344	HCPEpiC	choroid plexus:	n/a
48	chr11:46746236-46746286	ovcar-3	ovarian:	n/a
49	chr11:46746236-46746286	T-47D	breast:	n/a
50	chr11:46748294-46748344	NHDF-neo	bronchial:	n/a

(count:101 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:46720872..46723638-chr11:46759944..46762583,2	K562	blood:
2	chr1:145012787..145014315-chr11:46834339..46836400,2	MCF-7	breast:
3	chr11:46785313..46788117-chr11:46804478..46806472,2	MCF-7	breast:
4	chr11:46824600..46826880-chr11:46829114..46830702,3	K562	blood:
5	chr11:46761363..46764873-chr11:46765216..46768275,3	K562	blood:
6	chr11:46787403..46789216-chr11:46830914..46832486,2	K562	blood:
7	chr11:46719204..46720865-chr11:46763113..46765630,2	K562	blood:
8	chr11:46709487..46711426-chr11:46765477..46767414,2	K562	blood:
9	chr11:46721125..46723767-chr11:46740816..46743369,3	K562	blood:
10	chr11:46756420..46758070-chr11:46763484..46765200,2	MCF-7	breast:
11	chr11:46828755..46831301-chr11:46844947..46847653,2	K562	blood:
12	chr11:46746847..46748367-chr17:41398813..41400492,2	K562	blood:
13	chr11:46787403..46789216-chr11:46830914..46832486,2	K562	blood:
14	chr11:46769655..46771244-chr11:46773585..46775802,2	K562	blood:
15	chr11:46763360..46766169-chr11:46766734..46769498,4	K562	blood:
16	chr11:46775438..46777025-chr11:46785365..46787825,2	K562	blood:
17	chr11:46776239..46779172-chr11:46803736..46805304,2	K562	blood:
18	chr11:46828781..46830541-chr11:46867184..46869388,2	MCF-7	breast:
19	chr11:46830883..46837323-chr11:46838185..46842346,7	K562	blood:
20	chr11:46842194..46844369-chr11:46847198..46849731,2	K562	blood:
21	chr11:46835200..46837262-chr11:46837857..46839815,2	K562	blood:
22	chr11:46842194..46845139-chr11:46848231..46850202,2	K562	blood:
23	chr11:46841346..46843709-chr11:46844716..46847621,2	K562	blood:
24	chr11:46746847..46748369-chr17:41380576..41383669,4	K562	blood:
25	chr11:46742083..46744335-chr11:46763243..46766196,2	K562	blood:
26	chr11:46839791..46842440-chr11:46844022..46846821,2	MCF-7	breast:
27	chr11:46830883..46837323-chr11:46838185..46842346,7	K562	blood:
28	chr11:46723694..46726091-chr11:46747520..46750064,2	K562	blood:
29	chr11:46785964..46788289-chr11:46809938..46811766,2	K562	blood:
30	chr11:46771294..46774103-chr11:46776539..46778054,2	MCF-7	breast:
31	chr11:46798348..46800815-chr11:46802877..46805320,2	MCF-7	breast:
32	chr11:46744635..46747178-chr11:46749413..46751721,2	K562	blood:
33	chr11:46722213..46727380-chr11:46743173..46747634,5	MCF-7	breast:
34	chr11:46838312..46841025-chr11:46845017..46847859,4	K562	blood:
35	chr11:46829226..46831857-chr11:46836190..46837895,2	K562	blood:
36	chr11:46775438..46777025-chr11:46785365..46787825,2	K562	blood:
37	chr11:46812144..46815531-chr11:46816972..46819757,4	K562	blood:
38	chr11:46839791..46842440-chr11:46844022..46846821,2	MCF-7	breast:
39	chr11:46800078..46802503-chr11:47181465..47183295,2	MCF-7	breast:
40	chr11:46761363..46764873-chr11:46765216..46768275,3	K562	blood:
41	chr11:46838312..46841025-chr11:46845017..46847859,4	K562	blood:
42	chr11:46798348..46800815-chr11:46802877..46805320,2	MCF-7	breast:
43	chr11:46839480..46843439-chr11:46844955..46847096,3	MCF-7	breast:
44	chr11:46763360..46766169-chr11:46766734..46769498,4	K562	blood:
45	chr11:46824423..46826594-chr11:46829282..46831781,2	MCF-7	breast:
46	chr11:46785236..46787820-chr11:46798096..46801052,2	MCF-7	breast:
47	chr11:46777860..46782157-chr11:46783052..46787711,4	K562	blood:
48	chr11:46844063..46849810-chr11:46866303..46869226,7	MCF-7	breast:
49	chr11:46846941..46849918-chr11:46939245..46941639,2	MCF-7	breast:
50	chr11:46774424..46776540-chr11:46824127..46827022,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-5582-5p	chr11:46774721-46774742	MIMAT0022279
hsa-miR-5582-3p	chr11:46774675-46774696	MIMAT0022280

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	CKAP5	hsa-miR-16-5p	chr11:46765380-46765401
2	CKAP5	hsa-miR-155-5p	chr11:46765095-46765116
3	CKAP5	hsa-miR-130b-3p	chr11:46765096-46765123
4	CKAP5	hsa-miR-34a-5p	chr11:46765328-46765348
5	CKAP5	hsa-miR-15b-5p	chr11:46765380-46765401

Variant related genes	Relation type
F2	TF binding region
CKAP5	TF binding region
ENSG00000252427	TF binding region
SNORD67	TF binding region
MIR5582	TF binding region
F2	CpG island
CKAP5	CpG island
ENSG00000252427	CpG island
SNORD67	CpG island
MIR5582	CpG island
ENSG00000252427	chromatin interactions
ENSG00000175213	chromatin interactions
ENSG00000196639	chromatin interactions
ENSG00000263540	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000247675	chromatin interactions
ENSG00000175216	chromatin interactions
ENSG00000180210	chromatin interactions
ENSG00000134569	chromatin interactions
ENSG00000212135	chromatin interactions
ENSG00000175220	chromatin interactions
ENSG00000149179	chromatin interactions

Extended variants
information (count: 3784 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3784 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3136439	chr11:46743135-46743136	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs3136440	chr11:46743141-46743142	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs186871913	chr11:46743157-46743158	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs191762290	chr11:46743219-46743220	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs3136520	chr11:46743232-46743233	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs3136441	chr11:46743247-46743248	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
7	rs183293976	chr11:46743270-46743271	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs3136442	chr11:46743319-46743320	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs3136443	chr11:46743334-46743335	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575464085	chr11:46743338-46743339	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs544401170	chr11:46743355-46743356	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs3136521	chr11:46743432-46743433	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs3136444	chr11:46743441-46743442	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs3136445	chr11:46743462-46743463	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528052450	chr11:46743473-46743474	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs551418927	chr11:46743485-46743486	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs565155110	chr11:46743502-46743503	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs530771765	chr11:46743507-46743508	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550784761	chr11:46743518-46743519	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs566878025	chr11:46743541-46743542	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs535976244	chr11:46743556-46743557	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs567426756	chr11:46743583-46743584	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536767008	chr11:46743589-46743590	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs201250208	chr11:46743629-46743630	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs547037929	chr11:46743731-46743732	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs566788185	chr11:46743737-46743738	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539001885	chr11:46743744-46743745	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs186645736	chr11:46743836-46743837	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs116264656	chr11:46743863-46743864	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538111368	chr11:46743900-46743901	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs554748158	chr11:46743907-46743908	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs574662314	chr11:46743949-46743950	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs71455297	chr11:46743972-46743973	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs141380596	chr11:46744010-46744011	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561132128	chr11:46744074-46744075	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542372149	chr11:46744079-46744080	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs190054966	chr11:46744132-46744133	Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs553075476	chr11:46744313-46744314	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372628128	chr11:46744354-46744355	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs3136446	chr11:46744357-46744358	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs3136447	chr11:46744368-46744369	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3136448	chr11:46744369-46744370	Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs3136449	chr11:46744470-46744471	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs2070851	chr11:46744528-46744529	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs71474189	chr11:46744536-46744537	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561082732	chr11:46744545-46744546	Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs3136522	chr11:46744616-46744617	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs182328727	chr11:46744686-46744687	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs561275396	chr11:46744687-46744688	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs546808044	chr11:46744715-46744716	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2691 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46728800-46745600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:46728800-46745600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:46739800-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:46740200-46744400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:46740200-46745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:46740200-46745600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:46740400-46745600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:46741400-46744600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:46741800-46746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:46742000-46745600	Weak transcription	A549	lung
11	chr11:46742800-46743200	Transcr. at gene 5' and 3'	HepG2	liver
12	chr11:46743000-46744400	Transcr. at gene 5' and 3'	Liver	Liver
13	chr11:46743200-46744200	Genic enhancers	HepG2	liver
14	chr11:46744000-46745400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:46744200-46745000	Transcr. at gene 5' and 3'	HepG2	liver
16	chr11:46744400-46744800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:46744400-46752000	Genic enhancers	Liver	Liver
18	chr11:46744600-46745000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:46744800-46745400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:46745000-46745400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:46745000-46751200	Genic enhancers	HepG2	liver
22	chr11:46745400-46746000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:46745400-46746000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:46745400-46746200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:46745400-46746200	Enhancers	HSMMtube	muscle
26	chr11:46745400-46748600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:46745600-46745800	Enhancers	Fetal Muscle Leg	muscle
28	chr11:46745600-46746000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:46745600-46746000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:46745600-46746000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:46745600-46746200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:46745600-46746200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr11:46745600-46746200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:46745600-46746200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:46745600-46746200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr11:46745600-46746200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:46745600-46746200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr11:46745600-46746200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr11:46745600-46746200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr11:46745600-46746200	Enhancers	A549	lung
41	chr11:46745600-46746400	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:46746000-46746400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr11:46746000-46749400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:46746000-46758000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr11:46746000-46762800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:46746200-46751000	Weak transcription	A549	lung
47	chr11:46746200-46761200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:46746200-46761400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:46746400-46751000	Weak transcription	Esophagus	oesophagus
50	chr11:46746800-46748000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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