Variant report

Variant	rs11024225
Chromosome Location	chr11:17278549-17278550
allele	C/T
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	MAX	chr11:17278043-17278616	Hela-S3	cervix:	n/a	n/a
2	STAT3	chr11:17278019-17279182	MCF10A-Er-Src	breast:	n/a	chr11:17278877-17278891
3	FOS	chr11:17277929-17279240	MCF10A-Er-Src	breast:	n/a	chr11:17278993-17279002 chr11:17278171-17278182
4	STAT3	chr11:17277994-17279241	MCF10A-Er-Src	breast:	n/a	chr11:17278877-17278891
5	FOS	chr11:17277944-17279198	MCF10A-Er-Src	breast:	n/a	chr11:17278993-17279002 chr11:17278171-17278182
6	CEBPB	chr11:17277966-17279067	IMR90	lung:	n/a	chr11:17278211-17278222
7	STAT3	chr11:17277942-17279213	MCF10A-Er-Src	breast:	n/a	chr11:17278877-17278891
8	CEBPB	chr11:17277949-17278560	Hela-S3	cervix:	n/a	chr11:17278211-17278222

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17276368..17279116-chr11:17296206..17298362,2	K562	blood:
2	chr11:17276902..17279261-chr11:17279604..17281506,2	K562	blood:

Variant related genes	Relation type
NUCB2	TF binding region
ENSG00000070081	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10437606	0.91[AFR][1000 genomes]
rs11024191	0.91[AFR][1000 genomes]
rs11024200	0.91[AFR][1000 genomes]
rs11024205	1.00[AFR][1000 genomes]
rs11024209	1.00[AFR][1000 genomes]
rs11024210	1.00[AFR][1000 genomes]
rs11024214	0.91[AFR][1000 genomes]
rs11024224	1.00[AFR][1000 genomes]
rs12270107	0.91[AFR][1000 genomes]
rs12270787	0.91[AFR][1000 genomes]
rs12271185	1.00[AFR][1000 genomes]
rs12271462	1.00[AFR][1000 genomes]
rs12273822	0.91[AFR][1000 genomes]
rs12274808	0.91[AFR][1000 genomes]
rs12275868	1.00[AFR][1000 genomes]
rs12277497	0.91[AFR][1000 genomes]
rs12277622	0.91[AFR][1000 genomes]
rs12280196	1.00[AFR][1000 genomes]
rs12281046	0.91[AFR][1000 genomes]
rs12282134	1.00[AFR][1000 genomes]
rs12283197	0.91[AFR][1000 genomes]
rs12284302	1.00[AFR][1000 genomes]
rs12284418	1.00[AFR][1000 genomes]
rs12284697	0.91[AFR][1000 genomes]
rs12286496	0.91[AFR][1000 genomes]
rs12287981	0.91[AFR][1000 genomes]
rs12288071	0.91[AFR][1000 genomes]
rs12288105	0.91[AFR][1000 genomes]
rs12289626	1.00[AFR][1000 genomes]
rs12289628	1.00[AFR][1000 genomes]
rs12290259	0.91[AFR][1000 genomes]
rs12290804	0.91[AFR][1000 genomes]
rs12291427	0.91[AFR][1000 genomes]
rs12291561	0.91[AFR][1000 genomes]
rs12292310	0.91[AFR][1000 genomes]
rs12293230	0.82[AFR][1000 genomes]
rs12293863	1.00[AFR][1000 genomes]
rs12293938	1.00[AFR][1000 genomes]
rs12294645	0.91[AFR][1000 genomes]
rs12295187	0.82[AFR][1000 genomes]
rs12295410	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer 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	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17267000-17278800	Weak transcription	Primary T cells from cord blood	blood
2	chr11:17277400-17279200	Enhancers	NHDF-Ad	bronchial
3	chr11:17277600-17279000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:17277600-17279000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:17277600-17279000	Enhancers	HMEC	breast
6	chr11:17277600-17279000	Enhancers	NHEK	skin
7	chr11:17277600-17279000	Enhancers	NHLF	lung
8	chr11:17277800-17278800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:17278000-17280400	Enhancers	A549	lung
10	chr11:17278200-17278600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:17278200-17278800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:17278200-17278800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr11:17278200-17279000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:17278200-17279000	Flanking Active TSS	Hela-S3	cervix
15	chr11:17278400-17278600	Active TSS	HSMM	muscle
16	chr11:17278400-17278800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:17278400-17278800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:17278400-17278800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:17278400-17278800	Enhancers	Placenta	Placenta
20	chr11:17278400-17278800	Enhancers	Right Atrium	heart
21	chr11:17278400-17279000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr11:17278400-17279000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr11:17278400-17279000	Enhancers	NH-A	brain
24	chr11:17278400-17279000	Flanking Active TSS	Osteobl	bone
25	chr11:17278400-17279800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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