Variant report

Variant	rs11024263
Chromosome Location	chr11:17372860-17372861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:84)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:84 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:17372860-17373010	HPF	lung:	n/a	n/a
2	CTCF	chr11:17372766-17373134	K562	blood:	n/a	n/a
3	CTCF	chr11:17372840-17372990	MCF-7	breast:	n/a	n/a
4	CTCF	chr11:17372840-17372990	GM12866	blood:	n/a	n/a
5	CTCF	chr11:17372820-17372970	HCM	heart:	n/a	n/a
6	POLR2A	chr11:17372684-17373784	HL-60	blood:	n/a	n/a
7	CTCF	chr11:17372860-17373010	HBMEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:17372413-17375723	NB4	blood:	n/a	n/a
9	CTCF	chr11:17372840-17372990	HRE	kidney:	n/a	n/a
10	CTCF	chr11:17372780-17372930	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr11:17372860-17373010	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr11:17372860-17373010	AG10803	skin:	n/a	n/a
13	SMC3	chr11:17372801-17373053	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr11:17372840-17372990	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr11:17372835-17373788	A549	lung:	n/a	n/a
16	CTCF	chr11:17372800-17372950	HBMEC	blood vessel:	n/a	n/a
17	E2F6	chr11:17372803-17373770	H1-hESC	embryonic stem cell:	n/a	chr11:17373017-17373028 chr11:17373505-17373515 chr11:17373258-17373267 chr11:17373591-17373601
18	CTCF	chr11:17372780-17372930	GM06990	blood:	n/a	n/a
19	CTCF	chr11:17372820-17372970	AoAF	blood vessel:	n/a	n/a
20	CTCF	chr11:17372820-17372970	HCFaa	heart:	n/a	n/a
21	RCOR1	chr11:17372619-17373686	K562	blood:	n/a	n/a
22	CTCF	chr11:17372820-17372970	HAc	cerebellar:	n/a	n/a
23	CTCF	chr11:17372860-17373010	HRPEpiC	eye:	n/a	n/a
24	MXI1	chr11:17372217-17373803	IMR90	lung:	n/a	n/a
25	CTCF	chr11:17372860-17373010	HMEC	breast:	n/a	n/a
26	CTCF	chr11:17372620-17372910	NHEK	skin:	n/a	n/a
27	MAX	chr11:17372495-17373733	NB4	blood:	n/a	n/a
28	RAD21	chr11:17372775-17372953	H1-hESC	embryonic stem cell:	n/a	chr11:17372914-17372928
29	JUN	chr11:17372745-17372931	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr11:17372860-17373010	NHDF-neo	bronchial:	n/a	n/a
31	E2F4	chr11:17372668-17372914	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr11:17372820-17372970	Caco-2	colon:	n/a	n/a
33	RFX5	chr11:17372708-17373631	Hela-S3	cervix:	n/a	chr11:17372718-17372727
34	CTCF	chr11:17372840-17372990	HCPEpiC	choroid plexus:	n/a	n/a
35	BHLHE40	chr11:17372828-17373691	K562	blood:	n/a	chr11:17373250-17373266
36	CTCF	chr11:17372840-17372990	RPTEC	kidney:	n/a	n/a
37	CTCF	chr11:17372840-17372990	BE2_C	brain:	n/a	n/a
38	CTCF	chr11:17372780-17372930	HEK293	kidney:	n/a	n/a
39	CTCF	chr11:17372820-17372970	HA-sp	spinal cord:	n/a	n/a
40	KAP1	chr11:17372669-17373411	HEK293	kidney:	n/a	n/a
41	CTCF	chr11:17372820-17372970	HUVEC	blood vessel:	n/a	n/a
42	CTCF	chr11:17372720-17372870	GM12873	blood:	n/a	n/a
43	CTCF	chr11:17372840-17372990	AG09309	skin:	n/a	n/a
44	CBX3	chr11:17372818-17373669	K562	blood:	n/a	n/a
45	CTCF	chr11:17372780-17372930	AG09319	gingival:	n/a	n/a
46	CTCF	chr11:17372860-17373010	HCM	heart:	n/a	n/a
47	CTCF	chr11:17372840-17372990	HVMF	connective:	n/a	n/a
48	CTCF	chr11:17372800-17372950	BE2_C	brain:	n/a	n/a
49	CTCF	chr11:17372830-17373009	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr11:17372560-17376307	Raji	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17294885..17299963-chr11:17371989..17377835,11	K562	blood:
2	chr11:17227592..17232225-chr11:17372606..17377021,9	K562	blood:

No data

Variant related genes	Relation type
NCR3LG1	TF binding region
ENSG00000011405	Chromatin interaction
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10219196	0.83[ASN][1000 genomes]
rs10430892	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs10466382	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs10766383	0.86[CHB][hapmap]
rs10766385	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs10766387	0.83[ASN][1000 genomes]
rs10766389	1.00[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs10766390	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10766391	1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[ASN][1000 genomes]
rs10832757	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs10832758	0.80[ASN][1000 genomes]
rs10832759	0.81[ASN][1000 genomes]
rs10832760	0.81[ASN][1000 genomes]
rs10832762	0.83[ASN][1000 genomes]
rs10832763	0.92[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10832764	0.83[ASN][1000 genomes]
rs10832765	0.90[CHB][hapmap];0.83[ASN][1000 genomes]
rs10832768	0.91[CHB][hapmap];0.83[ASN][1000 genomes]
rs10832769	0.91[CHB][hapmap];0.82[ASN][1000 genomes]
rs10832770	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs10832771	0.84[ASN][1000 genomes]
rs10832772	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10832773	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832774	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832777	0.81[ASN][1000 genomes]
rs10832779	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs10832781	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10832782	0.95[CHB][hapmap];0.96[JPT][hapmap]
rs11024246	0.86[CHB][hapmap]
rs11024250	0.81[ASN][1000 genomes]
rs11024251	0.91[CHB][hapmap]
rs11024253	0.83[ASN][1000 genomes]
rs11024254	0.83[ASN][1000 genomes]
rs11024256	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11024260	0.83[ASN][1000 genomes]
rs11024262	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11024272	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs11525338	0.83[ASN][1000 genomes]
rs12225041	0.81[ASN][1000 genomes]
rs2018218	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2079042	0.81[ASN][1000 genomes]
rs2354867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34327804	0.80[ASN][1000 genomes]
rs4582955	0.83[ASN][1000 genomes]
rs4756887	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs5218	0.87[CHB][hapmap]
rs67904954	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950330	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469895	chr11:17368270-17584220	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Flanking Active TSS Active 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	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17354400-17373000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:17356200-17373000	Weak transcription	Left Ventricle	heart
3	chr11:17356400-17373000	Weak transcription	Esophagus	oesophagus
4	chr11:17366200-17373000	Weak transcription	NHEK	skin
5	chr11:17369600-17373200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:17372200-17373000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:17372400-17373000	Active TSS	Liver	Liver
8	chr11:17372400-17373000	Enhancers	Colonic Mucosa	Colon
9	chr11:17372400-17373000	Enhancers	A549	lung
10	chr11:17372400-17373000	Enhancers	Dnd41	blood
11	chr11:17372400-17373000	Bivalent/Poised TSS	GM12878-XiMat	blood
12	chr11:17372400-17373400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr11:17372600-17373000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:17372600-17373000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
15	chr11:17372600-17373000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:17372600-17373000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:17372600-17373000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:17372600-17373000	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr11:17372600-17373000	Bivalent Enhancer	Fetal Thymus	thymus
20	chr11:17372600-17373000	Flanking Active TSS	NHLF	lung
21	chr11:17372600-17373200	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr11:17372600-17373200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:17372600-17373200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:17372600-17373400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr11:17372600-17374000	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr11:17372600-17374200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr11:17372600-17375600	Active TSS	Brain Anterior Caudate	brain
28	chr11:17372600-17375600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr11:17372600-17375800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr11:17372600-17376000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:17372800-17373000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:17372800-17373000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
33	chr11:17372800-17373000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:17372800-17373000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:17372800-17373000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr11:17372800-17373000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr11:17372800-17373000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr11:17372800-17373000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
39	chr11:17372800-17373000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr11:17372800-17373000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:17372800-17373000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:17372800-17373000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:17372800-17373000	Active TSS	Brain Angular Gyrus	brain
44	chr11:17372800-17373000	Bivalent Enhancer	Brain Germinal Matrix	brain
45	chr11:17372800-17373000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
46	chr11:17372800-17373000	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr11:17372800-17373000	Enhancers	Placenta	Placenta
48	chr11:17372800-17373000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:17372800-17373000	Enhancers	Right Ventricle	heart
50	chr11:17372800-17373000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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