Variant report

Variant	rs10502248
Chromosome Location	chr11:121122197-121122198
allele	A/C
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	JUND	chr11:121121237-121122217	T-47D	breast:	n/a	chr11:121122167-121122181
2	FOXA1	chr11:121121616-121122296	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:121120979..121124837-chr11:121162716..121167264,4	MCF-7	breast:

Variant related genes	Relation type
RPS4XP12	TF binding region
ENSG00000109929	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11606279	1.00[EUR][1000 genomes]
rs12278183	1.00[EUR][1000 genomes]
rs17124838	1.00[EUR][1000 genomes]
rs17124943	1.00[EUR][1000 genomes]
rs17125003	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17125005	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17125007	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17125013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17125066	1.00[EUR][1000 genomes]
rs2077203	1.00[EUR][1000 genomes]
rs56068090	1.00[EUR][1000 genomes]
rs57169355	1.00[EUR][1000 genomes]
rs59174011	1.00[EUR][1000 genomes]
rs59976776	1.00[EUR][1000 genomes]
rs626945	1.00[EUR][1000 genomes]
rs649404	1.00[EUR][1000 genomes]
rs667418	1.00[EUR][1000 genomes]
rs7103341	1.00[EUR][1000 genomes]
rs7109612	1.00[EUR][1000 genomes]
rs7112214	1.00[EUR][1000 genomes]
rs7120718	1.00[EUR][1000 genomes]
rs7122846	1.00[EUR][1000 genomes]
rs73583180	1.00[EUR][1000 genomes]
rs73583183	1.00[EUR][1000 genomes]
rs73583186	1.00[EUR][1000 genomes]
rs73583187	1.00[EUR][1000 genomes]
rs73583191	1.00[EUR][1000 genomes]
rs73583193	1.00[EUR][1000 genomes]
rs73583199	1.00[EUR][1000 genomes]
rs73584905	1.00[EUR][1000 genomes]
rs73584909	1.00[EUR][1000 genomes]
rs73584914	1.00[EUR][1000 genomes]
rs73584917	1.00[EUR][1000 genomes]
rs73589525	1.00[EUR][1000 genomes]
rs73592731	1.00[EUR][1000 genomes]
rs73592747	1.00[EUR][1000 genomes]
rs73592754	1.00[EUR][1000 genomes]
rs73592756	1.00[EUR][1000 genomes]
rs73592766	1.00[EUR][1000 genomes]
rs73596704	1.00[EUR][1000 genomes]
rs73599482	1.00[EUR][1000 genomes]
rs73599484	1.00[EUR][1000 genomes]
rs73599490	1.00[EUR][1000 genomes]
rs73599492	1.00[EUR][1000 genomes]
rs73601425	1.00[EUR][1000 genomes]
rs763681	1.00[EUR][1000 genomes]
rs7924615	1.00[EUR][1000 genomes]
rs7926577	1.00[EUR][1000 genomes]
rs7932909	1.00[EUR][1000 genomes]
rs7942732	1.00[EUR][1000 genomes]
rs7946427	1.00[EUR][1000 genomes]
rs891435	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042295	chr11:121072853-121177079	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv898424	chr11:121108865-121206354	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv898425	chr11:121115206-121215237	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:121119800-121122200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr11:121119800-121122600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:121120000-121124400	Weak transcription	NHEK	skin
4	chr11:121120200-121122200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:121120200-121122400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:121120400-121122200	Enhancers	HSMM	muscle
7	chr11:121120400-121122600	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr11:121121400-121123200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:121121600-121124000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:121121800-121122200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:121121800-121122600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr11:121121800-121126400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr11:121122000-121124400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:121122000-121124400	Weak transcription	HMEC	breast

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