Variant report

Variant	esv1834145
Chromosome Location	chr11:63535620-63537509
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:63536471-63536586	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr11:63535604-63536072	GM12878	blood:	n/a	chr11:63535839-63535852 chr11:63535889-63535902 chr11:63535629-63535638 chr11:63535802-63535815 chr11:63535712-63535725 chr11:63535714-63535727
3	BHLHE40	chr11:63535284-63536038	GM12878	blood:	n/a	n/a
4	BHLHE40	chr11:63536655-63536659	K562	blood:	n/a	n/a
5	BHLHE40	chr11:63535794-63535909	K562	blood:	n/a	n/a
6	BRCA1	chr11:63537437-63537555	HepG2	liver:	n/a	n/a
7	BRCA1	chr11:63535795-63535974	HepG2	liver:	n/a	n/a
8	CCNT2	chr11:63535586-63536997	K562	blood:	n/a	chr11:63536360-63536369 chr11:63535628-63535637 chr11:63536844-63536853
9	CEBPB	chr11:63535895-63535896	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPD	chr11:63535616-63535938	HepG2	liver:	n/a	n/a
11	CEBPD	chr11:63535463-63535984	HepG2	liver:	n/a	n/a
12	CHD1	chr11:63535798-63535973	GM12878	blood:	n/a	n/a
13	CHD1	chr11:63535762-63535897	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD2	chr11:63535784-63535830	HepG2	liver:	n/a	n/a
15	CHD2	chr11:63535723-63536058	Hela-S3	cervix:	n/a	n/a
16	CHD2	chr11:63535797-63536051	GM12878	blood:	n/a	n/a
17	CHD2	chr11:63535756-63536052	K562	blood:	n/a	n/a
18	CHD2	chr11:63535779-63536016	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr11:63536271-63536878	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr11:63535622-63536015	A549	lung:	n/a	n/a
21	CTBP2	chr11:63535241-63535932	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr11:63536260-63536410	Caco-2	colon:	n/a	n/a
23	CTCF	chr11:63535117-63537563	SK-N-SH	brain:	n/a	chr11:63536572-63536585 chr11:63535824-63535837 chr11:63536692-63536705 chr11:63535834-63535847 chr11:63537262-63537275 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63536570-63536588 chr11:63535824-63535833
24	CTCF	chr11:63535600-63535750	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr11:63535604-63536054	K562	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
26	CTCF	chr11:63536320-63536470	GM12867	blood:	n/a	n/a
27	CTCF	chr11:63535720-63535870	HMF	breast:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
28	CTCF	chr11:63535690-63535892	ECC-1	luminal epithelium:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
29	CTCF	chr11:63535740-63535890	GM12867	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
30	CTCF	chr11:63535725-63535898	HepG2	liver:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
31	CTCF	chr11:63535705-63535949	A549	lung:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
32	CTCF	chr11:63536420-63536570	GM12865	blood:	n/a	n/a
33	CTCF	chr11:63535780-63535930	WI-38	lung:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
34	CTCF	chr11:63536391-63536479	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr11:63535696-63535957	Gliobla	brain:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
36	CTCF	chr11:63535740-63535890	NB4	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
37	CTCF	chr11:63535760-63535910	GM12865	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
38	CTCF	chr11:63535740-63535890	HVMF	connective:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
39	CTCF	chr11:63536340-63536490	GM12866	blood:	n/a	n/a
40	CTCF	chr11:63536300-63536450	Caco-2	colon:	n/a	n/a
41	CTCF	chr11:63535730-63535927	LNCaP	prostate:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
42	CTCF	chr11:63535740-63535890	HEK293	kidney:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
43	CTCF	chr11:63535720-63535870	AG09309	skin:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
44	CTCF	chr11:63535690-63535974	MCF-7	breast:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
45	CTCF	chr11:63535760-63535910	HBMEC	blood vessel:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
46	CTCF	chr11:63536580-63536730	GM12868	blood:	n/a	chr11:63536692-63536705
47	CTCF	chr11:63535700-63535981	A549	lung:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
48	CTCF	chr11:63535655-63535992	GM19238	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
49	CTCF	chr11:63535760-63535910	AG04449	skin:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
50	CTCF	chr11:63536296-63536525	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63537459-63537509	NB4	blood:	n/a
2	chr11:63537459-63537509	NB4	blood:	n/a
3	chr11:63536330-63536380	AG09309	skin:	n/a
4	chr11:63536855-63536905	HAEpiC	amniotic membrane:	n/a
5	chr11:63536330-63536380	SK-N-SH_RA	brain:	n/a
6	chr11:63535821-63535871	ovcar-3	ovarian:	n/a
7	chr11:63536855-63536905	AG04450	lung:	fetal
8	chr11:63535821-63535871	HRPEpiC	eye:	n/a
9	chr11:63535821-63535871	Hela-S3	cervix:	n/a
10	chr11:63535821-63535871	PFSK-1	brain:	n/a
11	chr11:63536330-63536380	ECC-1	luminal epithelium:	n/a
12	chr11:63537378-63537428	PFSK-1	brain:	n/a
13	chr11:63537459-63537509	NT2-D1	testis:	n/a
14	chr11:63537459-63537509	HCM	heart:	n/a
15	chr11:63537378-63537428	IMR90	lung:	fetal
16	chr11:63537459-63537509	GM06990	blood:	n/a
17	chr11:63537378-63537428	CMK	blood:	n/a
18	chr11:63537459-63537509	HCT-116	colon:	n/a
19	chr11:63537459-63537509	AoSMC	blood vessel:	n/a
20	chr11:63535821-63535871	NHDF-neo	bronchial:	n/a
21	chr11:63536855-63536905	IMR90	lung:	fetal
22	chr11:63535821-63535871	HMEC	breast:	n/a
23	chr11:63536855-63536905	HRCEpiC	kidney:	n/a
24	chr11:63536330-63536380	SK-N-SH	brain:	n/a
25	chr11:63537459-63537509	U87	brain:	n/a
26	chr11:63537378-63537428	NHDF-neo	bronchial:	n/a
27	chr11:63536330-63536380	Caco-2	colon:	n/a
28	chr11:63535821-63535871	AG04450	lung:	fetal
29	chr11:63537459-63537509	HEK293	kidney:	embryo
30	chr11:63537378-63537428	AoSMC	blood vessel:	n/a
31	chr11:63536855-63536905	HRE	kidney:	n/a
32	chr11:63536855-63536905	LNCaP	prostate:	n/a
33	chr11:63536330-63536380	K562	blood:	n/a
34	chr11:63536330-63536380	AG10803	skin:	n/a
35	chr11:63537378-63537428	Hela-S3	cervix:	n/a
36	chr11:63536330-63536380	H1-hESC	embryonic stem cell:	embryo
37	chr11:63536855-63536905	HRPEpiC	eye:	n/a
38	chr11:63536855-63536905	HCT-116	colon:	n/a
39	chr11:63536855-63536905	GM12878	blood:	n/a
40	chr11:63537459-63537509	NH-A	brain:	n/a
41	chr11:63537378-63537428	AG09319	gingival:	n/a
42	chr11:63535821-63535871	HCM	heart:	n/a
43	chr11:63537378-63537428	HEK293	kidney:	embryo
44	chr11:63537459-63537509	SK-N-MC	brain:	n/a
45	chr11:63536330-63536380	MCF-7	breast:	n/a
46	chr11:63537459-63537509	PANC-1	pancreas:	n/a
47	chr11:63537459-63537509	HAEpiC	amniotic membrane:	n/a
48	chr11:63536855-63536905	HIPEpiC	eye:	n/a
49	chr11:63537378-63537428	HPAEpiC	pulmonary alveolar:	n/a
50	chr11:63537378-63537428	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63536537..63538641-chr11:63540593..63542800,2	MCF-7	breast:
2	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:
3	chr11:63536948..63539321-chr11:63636062..63638062,2	K562	blood:
4	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
5	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
6	chr11:63535119..63536047-chr11:63580566..63581171,3	HCT-116	colon:
7	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
8	chr11:63536456..63536965-chr21:41500878..41501548,2	MCF-7	breast:
9	chr11:63535590..63537125-chr11:63584534..63586620,2	MCF-7	breast:
10	chr11:63536780..63538591-chr11:63740958..63743379,2	K562	blood:
11	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
12	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:
13	chr11:63529280..63533473-chr11:63536389..63539836,6	MCF-7	breast:
14	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
15	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
16	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:
17	chr11:63533629..63535902-chr11:63537475..63539173,2	MCF-7	breast:
18	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
19	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
20	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATL3-1	chr11:63535956-63536058	NONHSAT021906
2	lnc-ATL3-1	chr11:63535956-63536113	ENSG00000255651.2
3	lnc-ATL3-1	chr11:63535956-63536113	ENSG00000255651.1

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000255651	TF binding region
C11orf95	CpG island
ENSG00000255651	CpG island
ENSG00000133318	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000167771	chromatin interactions
ENSG00000072518	chromatin interactions
ENSG00000202089	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000188070	chromatin interactions
ENSG00000168005	chromatin interactions

Extended variants
information (count: 42 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548172060	chr11:63535658-63535659	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs35177480	chr11:63535680-63535681	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs545913096	chr11:63535709-63535710	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs140628142	chr11:63535721-63535722	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs528627190	chr11:63535779-63535780	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs548719549	chr11:63536114-63536115	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs561957810	chr11:63536134-63536135	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs531080062	chr11:63536283-63536284	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs550838816	chr11:63536300-63536301	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs181097520	chr11:63536435-63536436	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs532930118	chr11:63536443-63536444	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs546324077	chr11:63536558-63536559	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs566513192	chr11:63536679-63536680	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs148100143	chr11:63536699-63536700	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs527568563	chr11:63536705-63536706	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs555567110	chr11:63536783-63536784	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs12796284	chr11:63536857-63536858	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
18	rs12797981	chr11:63536876-63536877	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
19	rs140932440	chr11:63536913-63536914	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
20	rs558070145	chr11:63536922-63536923	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs577901100	chr11:63536925-63536926	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs576716071	chr11:63536928-63536929	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs377042172	chr11:63536931-63536932	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs573250583	chr11:63536965-63536966	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs541977113	chr11:63536975-63536976	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs561872915	chr11:63536983-63536984	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs530990818	chr11:63537030-63537031	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs544441053	chr11:63537068-63537069	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs112074795	chr11:63537111-63537112	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs547317874	chr11:63537113-63537114	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs368119240	chr11:63537117-63537118	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs566360075	chr11:63537143-63537144	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs528955048	chr11:63537226-63537227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs374354858	chr11:63537234-63537235	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs185535844	chr11:63537236-63537237	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs372037876	chr11:63537322-63537323	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs569008354	chr11:63537354-63537355	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs561557342	chr11:63537379-63537380	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs544135699	chr11:63537381-63537382	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs558033374	chr11:63537416-63537417	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs571474240	chr11:63537492-63537493	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs2509744	chr11:63537509-63537510	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
2	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
3	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
4	chr11:63534600-63535800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr11:63534600-63537000	Active TSS	Ovary	ovary
6	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
7	chr11:63534800-63535800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr11:63534800-63537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr11:63534800-63537000	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:63534800-63537000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:63534800-63537200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:63534800-63537200	Active TSS	Fetal Intestine Large	intestine
13	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
14	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
15	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
16	chr11:63534800-63537400	Active TSS	Lung	lung
17	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
18	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:63535000-63535800	Active TSS	Fetal Kidney	kidney
22	chr11:63535000-63536200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:63535000-63536200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:63535000-63536400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:63535000-63536400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:63535000-63536400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:63535000-63536600	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:63535000-63536800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr11:63535000-63536800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:63535000-63536800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:63535000-63537000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr11:63535000-63537000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:63535000-63537000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:63535000-63537000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:63535000-63537000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:63535000-63537000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:63535000-63537000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:63535000-63537000	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr11:63535000-63537000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:63535000-63537000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr11:63535000-63537000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:63535000-63537000	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr11:63535000-63537000	Active TSS	Spleen	Spleen
44	chr11:63535000-63537200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:63535000-63537200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:63535000-63537200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:63535000-63537200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr11:63535000-63537200	Active TSS	Colon Smooth Muscle	Colon
49	chr11:63535000-63537200	Active TSS	Duodenum Mucosa	Duodenum
50	chr11:63535000-63537200	Active TSS	Esophagus	oesophagus

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