Variant report

Variant	rs11690008
Chromosome Location	chr2:209089581-209089582
allele	A/G
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	TEAD4	chr2:209089216-209090095	ECC-1	luminal epithelium:	n/a	n/a
2	NFIC	chr2:209089148-209090030	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr2:209089181-209090132	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr2:209089428-209089994	ECC-1	luminal epithelium:	n/a	n/a
5	NR3C1	chr2:209089467-209089914	ECC-1	luminal epithelium:	n/a	n/a
6	NFIC	chr2:209089174-209090142	ECC-1	luminal epithelium:	n/a	n/a
7	EP300	chr2:209089159-209090178	ECC-1	luminal epithelium:	n/a	chr2:209089208-209089222
8	TEAD4	chr2:209089169-209090142	ECC-1	luminal epithelium:	n/a	n/a
9	TCF12	chr2:209089440-209090155	ECC-1	luminal epithelium:	n/a	n/a
10	MAX	chr2:209089462-209090138	ECC-1	luminal epithelium:	n/a	n/a
11	TCF12	chr2:209089156-209090063	ECC-1	luminal epithelium:	n/a	n/a
12	NR3C1	chr2:209089503-209089885	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
TPT1P2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1023751	1.00[AMR][1000 genomes]
rs10755022	1.00[AMR][1000 genomes]
rs10932258	1.00[AMR][1000 genomes]
rs11674342	1.00[AMR][1000 genomes]
rs12464567	1.00[AMR][1000 genomes]
rs12474810	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12694099	1.00[AMR][1000 genomes]
rs1348752	1.00[AMR][1000 genomes]
rs1529978	1.00[AMR][1000 genomes]
rs1992740	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2043718	1.00[AMR][1000 genomes]
rs2043719	1.00[AMR][1000 genomes]
rs2118298	1.00[AMR][1000 genomes]
rs2363464	1.00[AMR][1000 genomes]
rs4675756	1.00[AMR][1000 genomes]
rs6435421	1.00[AMR][1000 genomes]
rs6435422	1.00[AMR][1000 genomes]
rs6435423	1.00[AMR][1000 genomes]
rs6435424	1.00[AMR][1000 genomes]
rs6435432	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6435438	1.00[AMR][1000 genomes]
rs6706160	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6728979	1.00[AMR][1000 genomes]
rs6748431	1.00[AMR][1000 genomes]
rs6755550	1.00[AMR][1000 genomes]
rs7593482	1.00[AMR][1000 genomes]
rs796269	1.00[AMR][1000 genomes]
rs935366	1.00[AMR][1000 genomes]
rs9808144	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	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv834517	chr2:209006797-209170269	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv875751	chr2:209042963-209110784	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv525747	chr2:209087335-209116753	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209087400-209089600	Weak transcription	HSMM	muscle
2	chr2:209087400-209100000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:209087600-209089600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:209087600-209089600	Weak transcription	NHEK	skin
5	chr2:209087600-209103400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:209089200-209090000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:209089200-209090000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:209089200-209090000	Enhancers	Osteobl	bone
9	chr2:209089200-209090200	Enhancers	HMEC	breast

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