Variant report

Variant	rs2810933
Chromosome Location	chr1:119461609-119461610
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	EP300	chr1:119461208-119461722	GM12878	blood:	n/a	chr1:119461442-119461456 chr1:119461443-119461452
2	BHLHE40	chr1:119461139-119461762	GM12878	blood:	n/a	n/a
3	EP300	chr1:119461215-119461652	GM12878	blood:	n/a	chr1:119461442-119461456 chr1:119461443-119461452
4	CHD1	chr1:119460975-119461822	GM12878	blood:	n/a	n/a
5	TBP	chr1:119461208-119461866	GM12878	blood:	n/a	n/a
6	MAZ	chr1:119461235-119461659	GM12878	blood:	n/a	n/a
7	CHD2	chr1:119461017-119461988	GM12878	blood:	n/a	n/a
8	MEF2A	chr1:119461181-119461616	GM12878	blood:	n/a	chr1:119461446-119461454 chr1:119461422-119461436
9	MEF2A	chr1:119461194-119461628	GM12878	blood:	n/a	chr1:119461446-119461454 chr1:119461422-119461436

Variant related genes	Relation type
TBX15	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1014098	0.88[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs17022901	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17023092	0.86[ASW][hapmap]
rs17023129	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs17023211	0.86[ASW][hapmap];1.00[MEX][hapmap]
rs2256171	0.91[YRI][hapmap];0.86[AFR][1000 genomes]
rs2256826	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs2645286	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2645287	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645304	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2645306	0.86[ASW][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs2645307	0.93[YRI][hapmap];0.86[AFR][1000 genomes]
rs2765535	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2799758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2810934	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112208	0.96[AFR][1000 genomes];1.00[AMR][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	esv3494191	chr1:118772550-119719548	Enhancers Strong transcription Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv3494192	chr1:118772550-119719548	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv997707	chr1:119199568-119595949	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv831181	chr1:119340175-119529347	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr1:119429400-119490200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:119445800-119477200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:119446600-119470800	Strong transcription	Fetal Muscle Trunk	muscle
4	chr1:119448000-119461800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:119450400-119462800	Weak transcription	Psoas Muscle	Psoas
6	chr1:119452400-119462400	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:119453800-119469800	Weak transcription	HSMMtube	muscle
8	chr1:119454400-119464600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:119454600-119465800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:119456400-119469200	Strong transcription	Fetal Muscle Leg	muscle
11	chr1:119456600-119464600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:119457800-119467600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:119459000-119462200	Weak transcription	NHDF-Ad	bronchial
14	chr1:119459000-119464400	Weak transcription	HSMM	muscle
15	chr1:119459800-119461800	Strong transcription	Adipose Nuclei	Adipose
16	chr1:119460400-119462200	Enhancers	HepG2	liver
17	chr1:119460400-119469600	Strong transcription	Osteobl	bone
18	chr1:119460600-119462000	Enhancers	GM12878-XiMat	blood
19	chr1:119460600-119462200	Enhancers	Primary B cells from peripheral blood	blood
20	chr1:119461200-119462200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:119461200-119465000	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr1:119461600-119463000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:119461600-119463600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:119461600-119465000	Enhancers	H9 Cell Line	embryonic stem cell
25	chr1:119461600-119465200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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