Variant report

Variant	esv3358908
Chromosome Location	chr11:65324401-65327349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:345)
CpG islands
(count:550)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:345 , 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	BCL3	chr11:65324474-65325254	A549	lung:	n/a	n/a
2	CBX3	chr11:65326041-65326322	K562	blood:	n/a	n/a
3	CBX3	chr11:65325540-65325960	K562	blood:	n/a	n/a
4	CCNT2	chr11:65325642-65326194	K562	blood:	n/a	chr11:65326007-65326016
5	CEBPD	chr11:65325755-65326182	HepG2	liver:	n/a	n/a
6	CEBPD	chr11:65324725-65325585	HepG2	liver:	n/a	n/a
7	CEBPD	chr11:65324778-65325057	HepG2	liver:	n/a	n/a
8	CHD2	chr11:65326190-65326221	HepG2	liver:	n/a	n/a
9	CHD2	chr11:65325652-65326192	Hela-S3	cervix:	n/a	chr11:65326116-65326126 chr11:65326111-65326121
10	CHD2	chr11:65325686-65325869	K562	blood:	n/a	n/a
11	CREB1	chr11:65325522-65326313	A549	lung:	n/a	n/a
12	CREB1	chr11:65326644-65327233	A549	lung:	n/a	n/a
13	CTCF	chr11:65325680-65325830	HVMF	connective:	n/a	n/a
14	CTCF	chr11:65326520-65326670	AG04449	skin:	n/a	n/a
15	CTCF	chr11:65325700-65325850	HAc	cerebellar:	n/a	n/a
16	CTCF	chr11:65325560-65325710	BJ	skin:	n/a	chr11:65325583-65325596 chr11:65325583-65325596
17	CTCF	chr11:65326580-65326730	HCM	heart:	n/a	n/a
18	CTCF	chr11:65326500-65326650	HAc	cerebellar:	n/a	n/a
19	CTCF	chr11:65326520-65326670	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr11:65326560-65326710	BJ	skin:	n/a	n/a
21	CTCF	chr11:65326600-65326750	BJ	skin:	n/a	n/a
22	CTCF	chr11:65326600-65326750	HCFaa	heart:	n/a	n/a
23	CTCF	chr11:65325680-65325830	AG09319	gingival:	n/a	n/a
24	CTCF	chr11:65325660-65325810	HMEC	breast:	n/a	n/a
25	CTCF	chr11:65326560-65326710	HepG2	liver:	n/a	n/a
26	CTCF	chr11:65326440-65326590	HCPEpiC	choroid plexus:	n/a	n/a
27	CTCF	chr11:65325600-65325750	HCM	heart:	n/a	n/a
28	CTCF	chr11:65325718-65325833	K562	blood:	n/a	n/a
29	CTCF	chr11:65325680-65325830	NHDF-neo	bronchial:	n/a	n/a
30	CTCF	chr11:65326860-65327010	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr11:65325660-65325810	HCPEpiC	choroid plexus:	n/a	n/a
32	CTCF	chr11:65326592-65326666	LNCaP	prostate:	n/a	n/a
33	CTCF	chr11:65326520-65326670	HPF	lung:	n/a	n/a
34	CTCF	chr11:65326440-65326590	HBMEC	blood vessel:	n/a	n/a
35	CTCF	chr11:65325835-65325863	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr11:65325769-65325842	LNCaP	prostate:	n/a	n/a
37	CTCF	chr11:65326500-65326650	HA-sp	spinal cord:	n/a	n/a
38	CTCF	chr11:65325705-65325875	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr11:65326500-65326650	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr11:65325759-65325784	GM10266	blood:	n/a	n/a
41	CTCF	chr11:65325596-65325882	K562	blood:	n/a	n/a
42	CTCF	chr11:65325680-65325830	NHLF	lung:	n/a	n/a
43	CTCF	chr11:65326520-65326670	HAc	cerebellar:	n/a	n/a
44	CTCF	chr11:65325740-65325890	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr11:65326540-65326690	AoAF	blood vessel:	n/a	n/a
46	CTCF	chr11:65325700-65325850	AG04449	skin:	n/a	n/a
47	CTCF	chr11:65326520-65326670	AG09319	gingival:	n/a	n/a
48	CTCF	chr11:65326480-65326630	AG10803	skin:	n/a	n/a
49	CTCF	chr11:65326660-65326810	NHDF-neo	bronchial:	n/a	n/a
50	CTCF	chr11:65326540-65326690	AG09319	gingival:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65325872-65325922	T-47D	breast:	n/a
2	chr11:65325872-65325922	T-47D	breast:	n/a
3	chr11:65324768-65324818	HCF	heart:	n/a
4	chr11:65327156-65327206	HL-60	blood:	n/a
5	chr11:65325158-65325208	ECC-1	luminal epithelium:	n/a
6	chr11:65325872-65325922	H1-hESC	embryonic stem cell:	embryo
7	chr11:65325158-65325208	A549	lung:	n/a
8	chr11:65326725-65326775	AG09309	skin:	n/a
9	chr11:65324768-65324818	SK-N-SH_RA	brain:	n/a
10	chr11:65325623-65325673	HCT-116	colon:	n/a
11	chr11:65325623-65325673	NHBE	bronchial:	n/a
12	chr11:65325872-65325922	NB4	blood:	n/a
13	chr11:65326208-65326258	HL-60	blood:	n/a
14	chr11:65325158-65325208	BJ	skin:	n/a
15	chr11:65325158-65325208	Hela-S3	cervix:	n/a
16	chr11:65324768-65324818	Hela-S3	cervix:	n/a
17	chr11:65325158-65325208	AG09309	skin:	n/a
18	chr11:65325249-65325299	A549	lung:	n/a
19	chr11:65324768-65324818	SAEC	small airway:	n/a
20	chr11:65326208-65326258	Jurkat	blood:	n/a
21	chr11:65325872-65325922	A549	lung:	n/a
22	chr11:65324768-65324818	ProgFib	skin:	n/a
23	chr11:65325594-65325644	HMEC	breast:	n/a
24	chr11:65325623-65325673	SK-N-MC	brain:	n/a
25	chr11:65326208-65326258	AG04449	skin:	fetal
26	chr11:65326725-65326775	ProgFib	skin:	n/a
27	chr11:65325594-65325644	HRE	kidney:	n/a
28	chr11:65325158-65325208	HCT-116	colon:	n/a
29	chr11:65325594-65325644	AG10803	skin:	n/a
30	chr11:65325158-65325208	AG10803	skin:	n/a
31	chr11:65325594-65325644	HCPEpiC	choroid plexus:	n/a
32	chr11:65326725-65326775	Caco-2	colon:	n/a
33	chr11:65325623-65325673	AG09319	gingival:	n/a
34	chr11:65324768-65324818	HCPEpiC	choroid plexus:	n/a
35	chr11:65325249-65325299	H1-hESC	embryonic stem cell:	embryo
36	chr11:65324768-65324818	HAEpiC	amniotic membrane:	n/a
37	chr11:65325594-65325644	H1-hESC	embryonic stem cell:	embryo
38	chr11:65325249-65325299	PrEC	prostate:	n/a
39	chr11:65325249-65325299	SAEC	small airway:	n/a
40	chr11:65325872-65325922	HCF	heart:	n/a
41	chr11:65325872-65325922	SK-N-MC	brain:	n/a
42	chr11:65325158-65325208	PANC-1	pancreas:	n/a
43	chr11:65324768-65324818	MCF-7	breast:	n/a
44	chr11:65324768-65324818	NHBE	bronchial:	n/a
45	chr11:65325623-65325673	GM19239	blood:	n/a
46	chr11:65324768-65324818	HCT-116	colon:	n/a
47	chr11:65325623-65325673	ProgFib	skin:	n/a
48	chr11:65327156-65327206	SKMC	muscle:	n/a
49	chr11:65324768-65324818	HMEC	breast:	n/a
50	chr11:65325623-65325673	ECC-1	luminal epithelium:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65322271..65324751-chr6:27776572..27778307,2	MCF-7	breast:
2	chr11:65189010..65195293-chr11:65321323..65327708,15	K562	blood:
3	chr11:65188903..65194388-chr11:65323256..65328284,10	MCF-7	breast:
4	chr11:65264814..65267848-chr11:65324930..65327383,6	K562	blood:
5	chr11:65269130..65271131-chr11:65323511..65325144,2	MCF-7	breast:
6	chr11:65325880..65326380-chr3:112226218..112226735,2	Hela-S3	cervix:
7	chr11:65186486..65188182-chr11:65323386..65325229,2	MCF-7	breast:
8	chr11:65326472..65327992-chr11:65379929..65382834,2	MCF-7	breast:
9	chr11:65188846..65191466-chr11:65325823..65328502,2	MCF-7	breast:
10	chr11:65322009..65324491-chr11:65418105..65419642,2	MCF-7	breast:
11	chr11:65184371..65196984-chr11:65316952..65328208,29	K562	blood:
12	chr11:65325555..65326071-chr11:65337401..65337974,2	K562	blood:
13	chr11:65265516..65268533-chr11:65323156..65327547,5	MCF-7	breast:
14	chr11:65324365..65326095-chr11:65402996..65405366,2	K562	blood:
15	chr11:65264952..65268870-chr11:65322730..65327860,7	K562	blood:
16	chr11:65264479..65268560-chr11:65318003..65330456,22	MCF-7	breast:
17	chr11:65123264..65125729-chr11:65322609..65324877,2	K562	blood:
18	chr11:65322830..65325559-chr11:65385179..65389892,4	K562	blood:
19	chr11:65152331..65154319-chr11:65322563..65324840,2	K562	blood:

No data

Variant related genes	Relation type
LTBP3	TF binding region
LTBP3	CpG island
ENSG00000203813	chromatin interactions
ENSG00000266041	chromatin interactions
ENSG00000260233	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000197136	chromatin interactions
ENSG00000173465	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000173327	chromatin interactions
ENSG00000126391	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541720515	chr11:65324445-65324446	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs202101311	chr11:65324475-65324476	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs567088109	chr11:65324490-65324491	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs141441137	chr11:65324500-65324501	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs530136301	chr11:65324503-65324504	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs550283752	chr11:65324658-65324659	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs570131002	chr11:65324660-65324661	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs532676785	chr11:65324726-65324727	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs188756390	chr11:65324742-65324743	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs565879739	chr11:65324762-65324763	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs76639595	chr11:65324773-65324774	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs150838926	chr11:65324788-65324789	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs567939062	chr11:65324836-65324837	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs536681621	chr11:65324923-65324924	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs556552547	chr11:65324927-65324928	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs576501733	chr11:65324928-65324929	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs539148492	chr11:65324933-65324934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs558843523	chr11:65324983-65324984	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs572639733	chr11:65325014-65325015	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs115855839	chr11:65325039-65325040	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs561661562	chr11:65325048-65325049	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs367630026	chr11:65325068-65325069	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs371902308	chr11:65325081-65325082	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs543813285	chr11:65325087-65325088	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs199896239	chr11:65325090-65325091	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs532614152	chr11:65325113-65325114	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs552748040	chr11:65325133-65325134	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs371878166	chr11:65325190-65325191	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs375834889	chr11:65325270-65325271	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs368975107	chr11:65325271-65325272	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs559277223	chr11:65325287-65325288	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs535365850	chr11:65325325-65325326	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs577530923	chr11:65325326-65325327	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs12361793	chr11:65325337-65325338	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs71036212	chr11:65325356-65325357	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs12806801	chr11:65325443-65325444	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs192543645	chr11:65325460-65325461	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs548170587	chr11:65325475-65325476	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs568308900	chr11:65325554-65325555	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs536969884	chr11:65325556-65325557	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs370953966	chr11:65325604-65325605	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs570121811	chr11:65325642-65325643	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs200285966	chr11:65325911-65325912	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs539136329	chr11:65325916-65325917	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs553061304	chr11:65325920-65325921	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs184216483	chr11:65325922-65325923	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs535185317	chr11:65325923-65325924	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs201588076	chr11:65325924-65325925	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs200828002	chr11:65325925-65325926	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs561538690	chr11:65325978-65325979	Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:594 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65318600-65325800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:65318800-65324600	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:65319000-65324600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr11:65319000-65324600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:65320000-65325000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65320400-65324600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:65320400-65324600	Enhancers	Fetal Intestine Large	intestine
8	chr11:65320800-65324800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:65321200-65324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:65321200-65324800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr11:65321200-65325400	Enhancers	Fetal Brain Male	brain
12	chr11:65321200-65326200	Enhancers	Spleen	Spleen
13	chr11:65321400-65324600	Enhancers	Placenta	Placenta
14	chr11:65321400-65324800	Enhancers	Esophagus	oesophagus
15	chr11:65321600-65324800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:65321800-65324600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr11:65321800-65324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:65321800-65324800	Enhancers	K562	blood
19	chr11:65321800-65325000	Enhancers	Stomach Mucosa	stomach
20	chr11:65322000-65324600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:65322200-65324600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:65322200-65324600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr11:65322200-65325000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:65322400-65324600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:65322400-65324800	Enhancers	Pancreas	Pancrea
26	chr11:65322600-65324600	Enhancers	Liver	Liver
27	chr11:65322600-65324600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:65322600-65324800	Enhancers	Left Ventricle	heart
29	chr11:65322600-65325000	Flanking Active TSS	Hela-S3	cervix
30	chr11:65322800-65324800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:65322800-65324800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:65322800-65324800	Enhancers	NHEK	skin
33	chr11:65323000-65324600	Weak transcription	Dnd41	blood
34	chr11:65323000-65325000	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr11:65323000-65325200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:65323200-65324600	Enhancers	Fetal Heart	heart
37	chr11:65323200-65325000	Flanking Active TSS	HepG2	liver
38	chr11:65323400-65324600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:65323400-65324600	Enhancers	Brain Substantia Nigra	brain
40	chr11:65323400-65324600	Enhancers	Fetal Intestine Small	intestine
41	chr11:65323600-65324600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:65323600-65324800	Weak transcription	Psoas Muscle	Psoas
43	chr11:65323800-65324800	Weak transcription	Gastric	stomach
44	chr11:65324000-65324600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr11:65324000-65324800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:65324000-65324800	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr11:65324000-65324800	Flanking Active TSS	A549	lung
48	chr11:65324000-65324800	Flanking Active TSS	NH-A	brain
49	chr11:65324000-65325000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr11:65324000-65325000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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