Variant report

Variant	rs2926663
Chromosome Location	chr11:57424802-57424803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:379)
CpG islands
(count:61)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:379 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr11:57424704-57425217	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:57424578-57425655	Raji	blood:	n/a	n/a
3	POLR2A	chr11:57424531-57425615	SK-N-MC	brain:	n/a	n/a
4	MAX	chr11:57424716-57425394	MCF-7	breast:	n/a	chr11:57425194-57425201 chr11:57425064-57425074
5	TAF1	chr11:57424774-57425056	PFSK-1	brain:	n/a	n/a
6	EP300	chr11:57424745-57425507	GM12878	blood:	n/a	chr11:57425145-57425161 chr11:57424922-57424931 chr11:57425028-57425044 chr11:57424991-57425007
7	SIN3A	chr11:57424778-57425779	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:57424724-57425493	Hela-S3	cervix:	n/a	n/a
9	CEBPD	chr11:57424796-57425154	HepG2	liver:	n/a	n/a
10	EP300	chr11:57424673-57425343	GM12878	blood:	n/a	chr11:57425145-57425161 chr11:57424922-57424931 chr11:57425028-57425044 chr11:57424991-57425007
11	BRCA1	chr11:57424753-57425248	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:57424236-57425626	MCF10A-Er-Src	breast:	n/a	n/a
13	EGR1	chr11:57424763-57425296	ECC-1	luminal epithelium:	n/a	chr11:57424997-57425010 chr11:57425166-57425190 chr11:57425104-57425128 chr11:57424997-57425010
14	MYC	chr11:57424685-57425487	K562	blood:	n/a	chr11:57425194-57425201 chr11:57425064-57425074
15	RCOR1	chr11:57424553-57425420	K562	blood:	n/a	n/a
16	YY1	chr11:57424789-57425397	SK-N-SH_RA	brain:	n/a	n/a
17	SP1	chr11:57424642-57425590	HCT-116	colon:	n/a	chr11:57425063-57425074 chr11:57425063-57425075 chr11:57425063-57425075 chr11:57425064-57425074 chr11:57425014-57425024 chr11:57425027-57425041
18	CHD2	chr11:57424684-57425380	HepG2	liver:	n/a	n/a
19	MAZ	chr11:57424547-57425412	K562	blood:	n/a	chr11:57425194-57425201 chr11:57425064-57425074
20	BHLHE40	chr11:57424627-57425332	A549	lung:	n/a	n/a
21	MAX	chr11:57424637-57425469	H1-hESC	embryonic stem cell:	n/a	chr11:57425194-57425201 chr11:57425064-57425074
22	MYBL2	chr11:57424608-57425411	HepG2	liver:	n/a	n/a
23	ELF1	chr11:57424607-57425681	HCT-116	colon:	n/a	n/a
24	MXI1	chr11:57424505-57425826	GM12878	blood:	n/a	n/a
25	RCOR1	chr11:57424707-57425676	GM12878	blood:	n/a	n/a
26	ELF1	chr11:57424695-57425473	MCF-7	breast:	n/a	n/a
27	MAZ	chr11:57424753-57425283	HepG2	liver:	n/a	chr11:57425194-57425201 chr11:57425064-57425074
28	POLR2A	chr11:57424623-57425779	GM12891	blood:	n/a	n/a
29	POU2F2	chr11:57424673-57425546	GM12878	blood:	n/a	n/a
30	MXI1	chr11:57424513-57425998	IMR90	lung:	n/a	n/a
31	HEY1	chr11:57424695-57425034	HepG2	liver:	n/a	n/a
32	MAX	chr11:57424705-57425463	Hela-S3	cervix:	n/a	chr11:57425194-57425201 chr11:57425064-57425074
33	POLR2A	chr11:57424669-57425384	HUVEC	blood vessel:	n/a	n/a
34	CREB1	chr11:57424682-57425486	HepG2	liver:	n/a	n/a
35	BHLHE40	chr11:57424783-57425399	K562	blood:	n/a	n/a
36	SIN3AK20	chr11:57424742-57425377	A549	lung:	n/a	n/a
37	POLR2A	chr11:57424659-57425024	GM12891	blood:	n/a	n/a
38	CCNT2	chr11:57424556-57425419	K562	blood:	n/a	n/a
39	TAF1	chr11:57424710-57425451	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr11:57424746-57425048	Hela-S3	cervix:	n/a	n/a
41	GABPA	chr11:57424802-57425712	MCF-7	breast:	n/a	n/a
42	HA-E2F1	chr11:57424657-57425474	MCF-7	breast:	n/a	n/a
43	TCF12	chr11:57424670-57425460	ECC-1	luminal epithelium:	n/a	chr11:57424917-57424927
44	SP4	chr11:57424754-57425346	H1-hESC	embryonic stem cell:	n/a	chr11:57425063-57425074
45	ELF1	chr11:57424485-57425644	HCT-116	colon:	n/a	n/a
46	POLR2A	chr11:57424629-57425505	GM12891	blood:	n/a	n/a
47	POLR2A	chr11:57424679-57425483	NB4	blood:	n/a	n/a
48	RCOR1	chr11:57424688-57425272	K562	blood:	n/a	n/a
49	POLR2A	chr11:57424654-57425491	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr11:57424692-57425494	GM12892	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57424773-57424823	IMR90	lung:	fetal
2	chr11:57424773-57424823	AG09319	gingival:	n/a
3	chr11:57424773-57424823	SAEC	small airway:	n/a
4	chr11:57424773-57424823	HIPEpiC	eye:	n/a
5	chr11:57424773-57424823	H1-hESC	embryonic stem cell:	embryo
6	chr11:57424773-57424823	HCT-116	colon:	n/a
7	chr11:57424773-57424823	Hepatocyte	liver:	n/a
8	chr11:57424773-57424823	ovcar-3	ovarian:	n/a
9	chr11:57424773-57424823	CMK	blood:	n/a
10	chr11:57424773-57424823	HAEpiC	amniotic membrane:	n/a
11	chr11:57424773-57424823	ProgFib	skin:	n/a
12	chr11:57424773-57424823	LNCaP	prostate:	n/a
13	chr11:57424773-57424823	HNPCEpiC	eye:	n/a
14	chr11:57424773-57424823	Hela-S3	cervix:	n/a
15	chr11:57424773-57424823	BJ	skin:	n/a
16	chr11:57424773-57424823	AG10803	skin:	n/a
17	chr11:57424773-57424823	Jurkat	blood:	n/a
18	chr11:57424773-57424823	HepG2	liver:	n/a
19	chr11:57424773-57424823	AoSMC	blood vessel:	n/a
20	chr11:57424773-57424823	HL-60	blood:	n/a
21	chr11:57424773-57424823	GM06990	blood:	n/a
22	chr11:57424773-57424823	SKMC	muscle:	n/a
23	chr11:57424773-57424823	HEEpiC	esophagus:	n/a
24	chr11:57424773-57424823	HRCEpiC	kidney:	n/a
25	chr11:57424773-57424823	BE2_C	brain:	n/a
26	chr11:57424773-57424823	ECC-1	luminal epithelium:	n/a
27	chr11:57424773-57424823	MCF10A-Er-Src	breast:	n/a
28	chr11:57424773-57424823	GM12878	blood:	n/a
29	chr11:57424773-57424823	MCF-7	breast:	n/a
30	chr11:57424773-57424823	NB4	blood:	n/a
31	chr11:57424773-57424823	NH-A	brain:	n/a
32	chr11:57424773-57424823	PANC-1	pancreas:	n/a
33	chr11:57424773-57424823	HCF	heart:	n/a
34	chr11:57424773-57424823	K562	blood:	n/a
35	chr11:57424773-57424823	NHDF-neo	bronchial:	n/a
36	chr11:57424773-57424823	HRE	kidney:	n/a
37	chr11:57424773-57424823	NT2-D1	testis:	n/a
38	chr11:57424773-57424823	AG04449	skin:	fetal
39	chr11:57424773-57424823	NHBE	bronchial:	n/a
40	chr11:57424773-57424823	GM19239	blood:	n/a
41	chr11:57424773-57424823	Caco-2	colon:	n/a
42	chr11:57424773-57424823	AG04450	lung:	fetal
43	chr11:57424773-57424823	RPTEC	kidney:	n/a
44	chr11:57424773-57424823	HCPEpiC	choroid plexus:	n/a
45	chr11:57424773-57424823	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:57424773-57424823	SK-N-SH	brain:	n/a
47	chr11:57424773-57424823	U87	brain:	n/a
48	chr11:57424773-57424823	SK-N-SH_RA	brain:	n/a
49	chr11:57424773-57424823	GM12891	blood:	n/a
50	chr11:57424773-57424823	HRPEpiC	eye:	n/a

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57242576..57245304-chr11:57423792..57425526,2	MCF-7	breast:
2	chr11:57407680..57409367-chr11:57422916..57424875,2	MCF-7	breast:
3	chr11:57423095..57430151-chr11:57432283..57438412,24	K562	blood:
4	chr11:57423375..57427275-chr11:57433374..57437610,8	MCF-7	breast:
5	chr11:57423749..57426682-chr11:57508630..57510179,2	K562	blood:
6	chr11:57423476..57425127-chr11:58344978..58347964,2	K562	blood:
7	chr11:57194115..57196219-chr11:57423627..57426056,2	K562	blood:
8	chr11:57411538..57415148-chr11:57422707..57424942,3	K562	blood:
9	chr11:57424391..57425080-chr5:33440949..33441597,2	NB4	blood:
10	chr11:57333149..57335001-chr11:57423752..57425633,2	MCF-7	breast:
11	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
12	chr11:57424563..57426708-chr11:57434107..57436084,3	MCF-7	breast:

No data

Variant related genes	Relation type
CLP1	TF binding region
CLP1	CpG island
ENSG00000156587	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000254732	Chromatin interaction
ENSG00000255073	Chromatin interaction
ENSG00000134802	Chromatin interaction
ENSG00000255301	Chromatin interaction
ENSG00000211450	Chromatin interaction
ENSG00000254602	Chromatin interaction
ENSG00000166793	Chromatin interaction
ENSG00000186660	Chromatin interaction
ENSG00000208009	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000156599	Chromatin interaction
ENSG00000113407	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10160797	1.00[AMR][1000 genomes]
rs12282980	1.00[AMR][1000 genomes]
rs1941721	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2911725	1.00[ASW][hapmap];0.87[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs2926660	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[AFR][1000 genomes]
rs2956980	0.90[AFR][1000 genomes]
rs2956983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2956984	0.82[AFR][1000 genomes]
rs2969941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2969945	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs3016261	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016263	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016264	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3016293	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs600251	0.89[AFR][1000 genomes]
rs603420	0.89[AFR][1000 genomes]
rs610801	0.89[AFR][1000 genomes]
rs621683	0.85[AFR][1000 genomes]
rs621731	0.85[AFR][1000 genomes]
rs635536	0.85[AFR][1000 genomes]
rs660400	0.89[AFR][1000 genomes]
rs682785	0.85[AFR][1000 genomes]
rs686303	0.84[AFR][1000 genomes]
rs7127878	1.00[AMR][1000 genomes]
rs7939745	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57424200-57425000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:57424200-57425000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57424200-57425000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr11:57424200-57425600	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:57424400-57425000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:57424400-57425000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:57424400-57425000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr11:57424400-57425000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr11:57424400-57425000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr11:57424400-57425000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:57424400-57425000	Flanking Active TSS	Fetal Muscle Trunk	muscle
12	chr11:57424400-57425600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:57424400-57425600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:57424400-57425800	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr11:57424400-57426000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:57424400-57426000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:57424400-57426000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:57424400-57426000	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr11:57424400-57426000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:57424400-57426400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:57424600-57425000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
22	chr11:57424600-57425000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:57424600-57425000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:57424600-57425000	Flanking Active TSS	Liver	Liver
25	chr11:57424600-57425000	Flanking Active TSS	Fetal Thymus	thymus
26	chr11:57424600-57425400	Active TSS	Primary T cells from cord blood	blood
27	chr11:57424600-57425600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:57424600-57425600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:57424600-57425600	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr11:57424600-57425600	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr11:57424600-57425600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:57424600-57425600	Active TSS	Brain Angular Gyrus	brain
33	chr11:57424600-57425600	Active TSS	Brain Anterior Caudate	brain
34	chr11:57424600-57425600	Active TSS	Brain Germinal Matrix	brain
35	chr11:57424600-57425600	Active TSS	Brain Hippocampus Middle	brain
36	chr11:57424600-57425600	Active TSS	Colon Smooth Muscle	Colon
37	chr11:57424600-57425600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:57424600-57425600	Active TSS	Fetal Brain Male	brain
39	chr11:57424600-57425600	Active TSS	Fetal Brain Female	brain
40	chr11:57424600-57425600	Active TSS	Fetal Kidney	kidney
41	chr11:57424600-57425600	Active TSS	Fetal Lung	lung
42	chr11:57424600-57425600	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:57424600-57425800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:57424600-57425800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:57424600-57425800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:57424600-57425800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr11:57424600-57425800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:57424600-57425800	Active TSS	Aorta	Aorta
49	chr11:57424600-57425800	Active TSS	Esophagus	oesophagus
50	chr11:57424600-57425800	Active TSS	Fetal Intestine Large	intestine

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