Variant report

Variant	nsv1039059
Chromosome Location	chr11:3856201-3909415
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3040)
CpG islands
(count:1834)
Chromatin interactive
region (count:105)
LncRNA
region (count:4)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:3040 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:3888130-3888624	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:3898691-3899153	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:3876176-3876387	K562	blood:	n/a	n/a
4	ARID3A	chr11:3888567-3889552	K562	blood:	n/a	n/a
5	ARID3A	chr11:3880659-3881511	K562	blood:	n/a	n/a
6	ARID3A	chr11:3881380-3881519	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:3860455-3860871	K562	blood:	n/a	n/a
8	ARID3A	chr11:3886662-3886675	K562	blood:	n/a	n/a
9	ARID3A	chr11:3901140-3901652	HepG2	liver:	n/a	n/a
10	ARID3A	chr11:3877296-3877496	HepG2	liver:	n/a	n/a
11	ARID3A	chr11:3901986-3902290	HepG2	liver:	n/a	n/a
12	ARID3A	chr11:3903969-3904188	K562	blood:	n/a	n/a
13	ARID3A	chr11:3862890-3863079	K562	blood:	n/a	n/a
14	ARID3A	chr11:3874844-3875361	K562	blood:	n/a	n/a
15	ARID3A	chr11:3855670-3856589	K562	blood:	n/a	n/a
16	ARID3A	chr11:3899626-3900158	K562	blood:	n/a	n/a
17	ARID3A	chr11:3876120-3876472	HepG2	liver:	n/a	n/a
18	ATF1	chr11:3899823-3900218	K562	blood:	n/a	n/a
19	ATF1	chr11:3862512-3863187	K562	blood:	n/a	n/a
20	ATF1	chr11:3886834-3887792	K562	blood:	n/a	n/a
21	ATF1	chr11:3873989-3874294	K562	blood:	n/a	n/a
22	ATF1	chr11:3900635-3900850	K562	blood:	n/a	n/a
23	ATF1	chr11:3888442-3889323	K562	blood:	n/a	n/a
24	ATF1	chr11:3892477-3892821	K562	blood:	n/a	n/a
25	ATF1	chr11:3855828-3856648	K562	blood:	n/a	n/a
26	ATF2	chr11:3862305-3863398	GM12878	blood:	n/a	n/a
27	ATF2	chr11:3860225-3860755	GM12878	blood:	n/a	n/a
28	ATF2	chr11:3892427-3892886	GM12878	blood:	n/a	n/a
29	ATF2	chr11:3875155-3876536	GM12878	blood:	n/a	n/a
30	ATF2	chr11:3875695-3876445	GM12878	blood:	n/a	n/a
31	ATF2	chr11:3900493-3901414	GM12878	blood:	n/a	n/a
32	ATF2	chr11:3858141-3858677	GM12878	blood:	n/a	n/a
33	ATF2	chr11:3862870-3863245	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr11:3862451-3863240	GM12878	blood:	n/a	n/a
35	ATF2	chr11:3888312-3888862	GM12878	blood:	n/a	n/a
36	ATF2	chr11:3900477-3901207	GM12878	blood:	n/a	n/a
37	ATF3	chr11:3876070-3876540	A549	lung:	n/a	n/a
38	ATF3	chr11:3887026-3887391	K562	blood:	n/a	n/a
39	ATF3	chr11:3862801-3863067	A549	lung:	n/a	chr11:3862811-3862820
40	BACH1	chr11:3863088-3863148	K562	blood:	n/a	n/a
41	BACH1	chr11:3879632-3879643	K562	blood:	n/a	n/a
42	BACH1	chr11:3876085-3876442	K562	blood:	n/a	n/a
43	BATF	chr11:3876113-3876455	GM12878	blood:	n/a	n/a
44	BATF	chr11:3899095-3899569	GM12878	blood:	n/a	n/a
45	BATF	chr11:3900603-3901181	GM12878	blood:	n/a	n/a
46	BATF	chr11:3862465-3863076	GM12878	blood:	n/a	n/a
47	BATF	chr11:3900739-3901144	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:3900539-3901118	GM12878	blood:	n/a	chr11:3900660-3900669
49	BCL11A	chr11:3894943-3895296	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:3862446-3862918	GM12878	blood:	n/a	chr11:3862732-3862745 chr11:3862635-3862644

(count:1834 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:3876822-3876872	NT2-D1	testis:	n/a
2	chr11:3899234-3899284	ovcar-3	ovarian:	n/a
3	chr11:3887906-3887956	HCF	heart:	n/a
4	chr11:3863056-3863106	ProgFib	skin:	n/a
5	chr11:3876822-3876872	NT2-D1	testis:	n/a
6	chr11:3899234-3899284	ovcar-3	ovarian:	n/a
7	chr11:3887906-3887956	HCF	heart:	n/a
8	chr11:3863056-3863106	ProgFib	skin:	n/a
9	chr11:3876808-3876858	MCF-7	breast:	n/a
10	chr11:3863056-3863106	AG04450	lung:	fetal
11	chr11:3880668-3880718	HIPEpiC	eye:	n/a
12	chr11:3873994-3874044	GM12891	blood:	n/a
13	chr11:3863047-3863097	MCF10A-Er-Src	breast:	n/a
14	chr11:3865883-3865933	HIPEpiC	eye:	n/a
15	chr11:3876787-3876837	HRE	kidney:	n/a
16	chr11:3862931-3862981	HepG2	liver:	n/a
17	chr11:3862358-3862408	HepG2	liver:	n/a
18	chr11:3877179-3877229	A549	lung:	n/a
19	chr11:3862358-3862408	Hela-S3	cervix:	n/a
20	chr11:3887906-3887956	U87	brain:	n/a
21	chr11:3876535-3876585	IMR90	lung:	fetal
22	chr11:3876248-3876298	MCF10A-Er-Src	breast:	n/a
23	chr11:3862741-3862791	NB4	blood:	n/a
24	chr11:3862302-3862352	U87	brain:	n/a
25	chr11:3865883-3865933	ECC-1	luminal epithelium:	n/a
26	chr11:3887906-3887956	HUVEC	blood vessel:	n/a
27	chr11:3877179-3877229	HCT-116	colon:	n/a
28	chr11:3862931-3862981	NH-A	brain:	n/a
29	chr11:3876754-3876804	GM12891	blood:	n/a
30	chr11:3862358-3862408	GM19239	blood:	n/a
31	chr11:3876535-3876585	CMK	blood:	n/a
32	chr11:3862741-3862791	SK-N-SH	brain:	n/a
33	chr11:3862297-3862347	BJ	skin:	n/a
34	chr11:3862089-3862139	HL-60	blood:	n/a
35	chr11:3877315-3877365	T-47D	breast:	n/a
36	chr11:3862297-3862347	PFSK-1	brain:	n/a
37	chr11:3873994-3874044	HCM	heart:	n/a
38	chr11:3876754-3876804	AG10803	skin:	n/a
39	chr11:3901552-3901602	Caco-2	colon:	n/a
40	chr11:3899234-3899284	NH-A	brain:	n/a
41	chr11:3862991-3863041	HCPEpiC	choroid plexus:	n/a
42	chr11:3858493-3858543	PANC-1	pancreas:	n/a
43	chr11:3862297-3862347	SK-N-SH_RA	brain:	n/a
44	chr11:3877179-3877229	CMK	blood:	n/a
45	chr11:3899234-3899284	H1-hESC	embryonic stem cell:	embryo
46	chr11:3862931-3862981	HCF	heart:	n/a
47	chr11:3876535-3876585	NT2-D1	testis:	n/a
48	chr11:3876822-3876872	T-47D	breast:	n/a
49	chr11:3862931-3862981	A549	lung:	n/a
50	chr11:3861512-3861562	NHBE	bronchial:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr11:3858623..3864245-chr11:3874959..3879217,11	K562	blood:
2	chr11:3906079..3908316-chr11:3988710..3990857,2	K562	blood:
3	chr11:3856186..3858258-chr11:3896154..3898858,2	K562	blood:
4	chr11:3855443..3857782-chr11:3869074..3871909,2	K562	blood:
5	chr11:3857978..3860215-chr11:3891494..3894175,2	K562	blood:
6	chr11:3884366..3885941-chr11:3894780..3897079,2	K562	blood:
7	chr11:3856690..3859651-chr11:3923487..3926429,3	K562	blood:
8	chr11:3862793..3864567-chr11:4100746..4102871,2	K562	blood:
9	chr11:3898534..3901352-chr11:3914445..3916336,2	K562	blood:
10	chr11:3875349..3877164-chr11:3894334..3897310,2	MCF-7	breast:
11	chr11:3844970..3847923-chr11:3859030..3861537,2	MCF-7	breast:
12	chr11:3860189..3865275-chr11:3872883..3879283,10	K562	blood:
13	chr11:3868931..3871708-chr11:3879201..3881695,3	K562	blood:
14	chr11:3855443..3857782-chr11:3869074..3871909,2	K562	blood:
15	chr11:3889318..3891193-chr11:3903211..3907192,3	K562	blood:
16	chr11:3816345..3819166-chr11:3875729..3878020,2	K562	blood:
17	chr11:3856690..3859651-chr11:3923487..3926429,2	K562	blood:
18	chr11:3855651..3858581-chr11:3874528..3876405,2	K562	blood:
19	chr11:3885887..3888606-chr11:3895839..3898545,2	MCF-7	breast:
20	chr11:3853294..3855023-chr11:3877821..3880627,2	K562	blood:
21	chr11:3827764..3831807-chr11:3860648..3864124,7	K562	blood:
22	chr11:3898017..3898634-chr3:12542224..12542813,2	Hela-S3	cervix:
23	chr11:3862990..3867083-chr11:3867871..3871459,5	K562	blood:
24	chr11:3861720..3863854-chr11:3876323..3877978,2	MCF-7	breast:
25	chr11:3861261..3864016-chr11:3874431..3876289,3	MCF-7	breast:
26	chr11:3869518..3871179-chr11:3872490..3875358,2	MCF-7	breast:
27	chr11:3830424..3832547-chr11:3854238..3857029,2	K562	blood:
28	chr11:3880021..3883743-chr11:3910117..3913050,3	K562	blood:
29	chr11:3869715..3872142-chr11:4092471..4094977,3	K562	blood:
30	chr11:3856186..3858258-chr11:3896154..3898858,2	K562	blood:
31	chr11:3900708..3902267-chr11:3904917..3907387,2	K562	blood:
32	chr11:3870169..3871185-chr11:4093536..4094651,4	MCF-7	breast:
33	chr11:3875402..3877640-chr11:3896655..3899286,2	K562	blood:
34	chr11:3899401..3901421-chr11:3909382..3911737,2	K562	blood:
35	chr11:3862483..3865232-chr11:3890007..3892959,2	K562	blood:
36	chr11:3870179..3871112-chr11:3980205..3980923,2	K562	blood:
37	chr11:3900708..3902267-chr11:3904917..3907387,2	K562	blood:
38	chr11:3886506..3888876-chr11:3896609..3899008,2	K562	blood:
39	chr11:3815959..3820545-chr11:3854514..3864703,12	K562	blood:
40	chr11:3868931..3871708-chr11:3879201..3881695,3	K562	blood:
41	chr11:3899401..3901421-chr11:3909382..3911737,2	K562	blood:
42	chr11:3888017..3891193-chr11:3903211..3907192,4	K562	blood:
43	chr11:3860690..3862593-chr11:4116069..4117581,2	MCF-7	breast:
44	chr11:3876409..3878027-chr11:3879355..3881248,2	MCF-7	breast:
45	chr11:3895497..3897326-chr11:3928476..3930571,2	K562	blood:
46	chr11:3873199..3875209-chr11:4005574..4007848,2	K562	blood:
47	chr11:3872785..3874382-chr11:3875478..3878350,2	K562	blood:
48	chr11:3884366..3885941-chr11:3894780..3897079,2	K562	blood:
49	chr11:3895361..3897220-chr11:3900552..3902972,2	K562	blood:
50	chr11:3845748..3846401-chr11:3862699..3863275,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGAP2-1	chr11:3875842-3875884	XLOC_009035
2	lnc-PGAP2-1	chr11:3876146-3876629	XLOC_009035
3	lnc-RHOG-2	chr11:3875548-3875888	XLOC_009363
4	lnc-RHOG-2	chr11:3876587-3876739	XLOC_009363

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4687-5p	chr11:3877303-3877324	MIMAT0019774
hsa-miR-4687-3p	chr11:3877343-3877363	MIMAT0019775

No data

Variant related genes	Relation type
ENSG00000228661	TF binding region
ENSG00000229368	TF binding region
STIM1	TF binding region
RHOG	TF binding region
MIR4687	TF binding region
ENSG00000228661	CpG island
ENSG00000229368	CpG island
STIM1	CpG island
RHOG	CpG island
MIR4687	CpG island
ENSG00000230593	chromatin interactions
ENSG00000167325	chromatin interactions
ENSG00000149485	chromatin interactions
ENSG00000167323	chromatin interactions
ENSG00000134824	chromatin interactions
ENSG00000123358	chromatin interactions
ENSG00000140691	chromatin interactions
ENSG00000228661	chromatin interactions
ENSG00000148985	chromatin interactions
ENSG00000005700	chromatin interactions
ENSG00000229368	chromatin interactions
ENSG00000263421	chromatin interactions
ENSG00000110713	chromatin interactions
ENSG00000177105	chromatin interactions
ENSG00000153048	chromatin interactions
TSPYL2	miRNA target sites
TTC7A	miRNA target sites

Extended variants
information (count: 1992 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1992 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73423213	chr11:3856249-3856250	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs375323179	chr11:3856448-3856449	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs529360499	chr11:3856509-3856510	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs190259533	chr11:3856516-3856517	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs182528998	chr11:3856527-3856528	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs1451722	chr11:3856553-3856554	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs1451723	chr11:3856593-3856594	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs551682340	chr11:3856663-3856664	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs567137554	chr11:3856664-3856665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs1451724	chr11:3856668-3856669	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs117640293	chr11:3856743-3856744	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs112287451	chr11:3856773-3856774	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs74050302	chr11:3856810-3856811	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs11029997	chr11:3856876-3856877	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs539710346	chr11:3856892-3856893	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs55633079	chr11:3856928-3856929	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs571285485	chr11:3856944-3856945	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs538812770	chr11:3856963-3856964	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs187576600	chr11:3856964-3856965	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs114721964	chr11:3856974-3856975	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs542947476	chr11:3856975-3856976	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs555758721	chr11:3856984-3856985	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs574099801	chr11:3857000-3857001	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs544689478	chr11:3857023-3857024	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs113087943	chr11:3857045-3857046	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs527821779	chr11:3857065-3857066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs141968264	chr11:3857067-3857068	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs370779446	chr11:3857068-3857069	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs545573384	chr11:3857074-3857075	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs143297597	chr11:3857080-3857081	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs76905884	chr11:3857087-3857088	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs34642496	chr11:3857091-3857092	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs148333767	chr11:3857114-3857115	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs192849893	chr11:3857120-3857121	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs184170466	chr11:3857125-3857126	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs139580835	chr11:3857132-3857133	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs372688165	chr11:3857144-3857145	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs531188194	chr11:3857149-3857150	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs34807274	chr11:3857150-3857151	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs143085939	chr11:3857154-3857155	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs571312937	chr11:3857191-3857192	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs75581078	chr11:3857217-3857218	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553886593	chr11:3857276-3857277	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs58765611	chr11:3857283-3857284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs376102577	chr11:3857311-3857312	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs536517401	chr11:3857312-3857313	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs147415635	chr11:3857325-3857326	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs576432422	chr11:3857352-3857353	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs544599971	chr11:3857359-3857360	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs188720092	chr11:3857381-3857382	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3031 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3830600-3861000	Weak transcription	Fetal Kidney	kidney
2	chr11:3844000-3857000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr11:3844800-3857000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:3848400-3861000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:3848600-3858200	Weak transcription	NHDF-Ad	bronchial
6	chr11:3849400-3859000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:3849600-3856400	Weak transcription	Ovary	ovary
8	chr11:3849600-3861000	Weak transcription	HSMMtube	muscle
9	chr11:3851600-3857200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:3852000-3856600	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr11:3852000-3858600	Enhancers	Brain Anterior Caudate	brain
12	chr11:3852200-3857000	Genic enhancers	Spleen	Spleen
13	chr11:3852200-3859800	Enhancers	Right Ventricle	heart
14	chr11:3852200-3860800	Enhancers	Small Intestine	intestine
15	chr11:3852400-3857200	Genic enhancers	Fetal Thymus	thymus
16	chr11:3852400-3859800	Weak transcription	Fetal Brain Female	brain
17	chr11:3852600-3857800	Transcr. at gene 5' and 3'	K562	blood
18	chr11:3852600-3860400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
19	chr11:3852800-3856800	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:3853000-3858200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:3853000-3858200	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:3853200-3856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:3853600-3859000	Genic enhancers	Fetal Intestine Small	intestine
24	chr11:3853600-3860800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:3853800-3856600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
26	chr11:3854200-3860000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:3854600-3857000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr11:3854600-3858800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
29	chr11:3854600-3860200	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr11:3854600-3860800	Enhancers	Placenta	Placenta
31	chr11:3854800-3857200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:3854800-3857400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
33	chr11:3854800-3857600	Strong transcription	NHLF	lung
34	chr11:3854800-3857800	Genic enhancers	Dnd41	blood
35	chr11:3855000-3857000	Enhancers	Right Atrium	heart
36	chr11:3855000-3857200	Genic enhancers	NHEK	skin
37	chr11:3855000-3857400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:3855000-3857400	Enhancers	Fetal Intestine Large	intestine
39	chr11:3855000-3860600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:3855200-3856400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:3855200-3856800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr11:3855200-3857200	Enhancers	Psoas Muscle	Psoas
43	chr11:3855200-3857200	Genic enhancers	HMEC	breast
44	chr11:3855200-3859400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:3855200-3860600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:3855200-3860800	Enhancers	Brain Angular Gyrus	brain
47	chr11:3855200-3862000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:3855400-3856400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr11:3855400-3856400	Strong transcription	Rectal Smooth Muscle	rectum
50	chr11:3855400-3857000	Genic enhancers	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links