Variant report

Variant	rs2412263
Chromosome Location	chr11:3602704-3602705
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr11:3602111-3602706	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr11:3602382-3602718	GM10266	blood:	n/a	n/a
3	GABPA	chr11:3602390-3602739	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:3602377-3602714	GM12878	blood:	n/a	n/a
5	CTCF	chr11:3602560-3602710	Hela-S3	cervix:	n/a	n/a
6	FOSL2	chr11:3602250-3602718	HepG2	liver:	n/a	n/a
7	CTCF	chr11:3602383-3602727	A549	lung:	n/a	n/a
8	CTCF	chr11:3602379-3602725	Spleen_OC	spleen:	n/a	n/a
9	CTCF	chr11:3602397-3602716	GM13977	blood:	n/a	n/a
10	MAX	chr11:3602477-3602706	K562	blood:	n/a	n/a
11	CTCF	chr11:3602382-3602713	IMR90	lung:	n/a	n/a
12	RAD21	chr11:3602369-3602707	HepG2	liver:	n/a	n/a
13	CTCF	chr11:3602394-3602760	LNCaP	prostate:	n/a	n/a
14	IRF4	chr11:3602344-3602761	GM12878	blood:	n/a	n/a
15	CTCF	chr11:3602350-3602742	H1-hESC	embryonic stem cell:	n/a	n/a
16	JUND	chr11:3602325-3602755	A549	lung:	n/a	n/a
17	TAF1	chr11:3602212-3602710	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr11:3602413-3602712	Kidney_OC	kidney:	n/a	n/a
19	CTCF	chr11:3602384-3602705	Pancreas_OC	pancreas:	n/a	n/a
20	PAX5	chr11:3602226-3602835	GM12878	blood:	n/a	n/a
21	CTCF	chr11:3602221-3602933	A549	lung:	n/a	n/a
22	CBX3	chr11:3602459-3602769	K562	blood:	n/a	n/a
23	YY1	chr11:3602373-3602741	HepG2	liver:	n/a	n/a
24	POU2F2	chr11:3602182-3603082	GM12878	blood:	n/a	n/a
25	CTCF	chr11:3602560-3602710	K562	blood:	n/a	n/a
26	TEAD4	chr11:3602317-3602769	H1-hESC	embryonic stem cell:	n/a	n/a
27	PAX5	chr11:3602375-3602719	GM12878	blood:	n/a	n/a
28	TCF3	chr11:3602322-3602719	GM12878	blood:	n/a	n/a
29	CTCF	chr11:3602362-3602709	A549	lung:	n/a	n/a
30	CTCF	chr11:3602560-3602710	HVMF	connective:	n/a	n/a
31	ELF1	chr11:3602355-3602752	GM12878	blood:	n/a	n/a
32	RAD21	chr11:3602292-3602929	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr11:3602412-3602705	GM12891	blood:	n/a	n/a
34	CTCF	chr11:3602560-3602710	HepG2	liver:	n/a	n/a
35	CTCF	chr11:3602560-3602710	GM12874	blood:	n/a	n/a
36	REST	chr11:3602456-3602735	PFSK-1	brain:	n/a	n/a
37	RAD21	chr11:3602351-3602705	SK-N-SH_RA	brain:	n/a	n/a
38	CTCF	chr11:3602560-3602710	HMF	breast:	n/a	n/a
39	RAD21	chr11:3602351-3602761	SK-N-SH_RA	brain:	n/a	n/a
40	RXRA	chr11:3602335-3602772	HepG2	liver:	n/a	n/a
41	RAD21	chr11:3602220-3602833	H1-hESC	embryonic stem cell:	n/a	n/a
42	TEAD4	chr11:3602339-3602734	H1-hESC	embryonic stem cell:	n/a	n/a
43	RAD21	chr11:3602462-3602705	K562	blood:	n/a	n/a
44	CTCF	chr11:3602560-3602710	AG04449	skin:	n/a	n/a
45	CTCF	chr11:3602560-3602710	HCT-116	colon:	n/a	n/a
46	CTCF	chr11:3602307-3602752	K562	blood:	n/a	n/a
47	SMC3	chr11:3602404-3602939	SK-N-SH	brain:	n/a	n/a
48	SP1	chr11:3602320-3602760	GM12878	blood:	n/a	n/a
49	CTCF	chr11:3602387-3602716	Medullo	brain:	n/a	n/a
50	CTCF	chr11:3602201-3602846	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000255367	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047763	chr11:2918998-3751029	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	esv2758252	chr11:3236512-3801429	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2759796	chr11:3236512-3801429	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv971971	chr11:3407682-3626480	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv1045606	chr11:3410159-3621623	Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1047150	chr11:3410159-3629024	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2760220	chr11:3413187-3613131	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv1036243	chr11:3416477-3611769	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv1048775	chr11:3416477-3612666	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
10	nsv1050289	chr11:3416477-3612729	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv1048955	chr11:3416477-3613131	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	nsv1039294	chr11:3416477-3621623	Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	esv2760300	chr11:3416489-3667988	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv1042884	chr11:3418340-3611769	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv1050993	chr11:3419502-3613131	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	esv2757416	chr11:3419502-3613163	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv430312	chr11:3419502-3633594	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv1042319	chr11:3422223-3612729	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	nsv1051536	chr11:3422223-3613131	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
20	nsv1048151	chr11:3422223-3621623	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
21	esv18699	chr11:3426081-3674989	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
22	nsv1048017	chr11:3426602-3613131	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	nsv1043863	chr11:3426602-3618417	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
24	esv1798757	chr11:3431270-3621370	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1052574	chr11:3437488-3612729	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
26	nsv1047360	chr11:3437488-3613131	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
27	nsv1040226	chr11:3437488-3629024	ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
28	nsv1042782	chr11:3449426-3613131	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
29	nsv832051	chr11:3523947-3728714	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
30	nsv467660	chr11:3568044-3660914	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
31	nsv553140	chr11:3568044-3660914	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
32	nsv983086	chr11:3599135-3609337	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
33	nsv8772	chr11:3602703-3605972	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:3600800-3602800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:3601400-3602800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:3601400-3603200	Active TSS	Fetal Intestine Large	intestine
4	chr11:3601600-3602800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:3602200-3602800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:3602200-3602800	Enhancers	Lung	lung
7	chr11:3602200-3602800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr11:3602400-3602800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr11:3602400-3602800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:3602400-3602800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:3602400-3602800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:3602400-3602800	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:3602400-3602800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr11:3602400-3602800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
15	chr11:3602400-3602800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:3602400-3602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:3602400-3602800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:3602400-3602800	Enhancers	Colon Smooth Muscle	Colon
19	chr11:3602400-3602800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr11:3602400-3602800	Bivalent Enhancer	Placenta	Placenta
21	chr11:3602400-3602800	Bivalent Enhancer	Fetal Thymus	thymus
22	chr11:3602400-3602800	Enhancers	Pancreas	Pancrea
23	chr11:3602400-3602800	Enhancers	Psoas Muscle	Psoas
24	chr11:3602400-3602800	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr11:3602400-3602800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr11:3602400-3602800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr11:3602400-3602800	Enhancers	A549	lung
28	chr11:3602400-3602800	Enhancers	HepG2	liver
29	chr11:3602400-3603000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr11:3602400-3603000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr11:3602400-3603400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:3602400-3603400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr11:3602600-3602800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
34	chr11:3602600-3602800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:3602600-3602800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
36	chr11:3602600-3602800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:3602600-3602800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:3602600-3602800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:3602600-3602800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
40	chr11:3602600-3602800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr11:3602600-3602800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr11:3602600-3602800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:3602600-3602800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
44	chr11:3602600-3602800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:3602600-3602800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr11:3602600-3602800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:3602600-3602800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:3602600-3602800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:3602600-3602800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:3602600-3602800	Enhancers	Adipose Nuclei	Adipose

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