Variant report

Variant	rs1014098
Chromosome Location	chr1:119458215-119458216
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	IRF3	chr1:119458196-119458248	GM12878	blood:	n/a	chr1:119458197-119458208

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:119023448..119025739-chr1:119456881..119458655,2	MCF-7	breast:

Variant related genes	Relation type
TBX15	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10494217	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12133982	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12134163	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12134578	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12135657	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12138343	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12138613	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12139133	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12139690	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12141651	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12142077	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12143789	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12144610	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17022901	0.88[AFR][1000 genomes]
rs17185907	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17185933	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2068794	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2256171	0.91[YRI][hapmap]
rs2256826	0.93[YRI][hapmap]
rs2645286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645287	0.88[AFR][1000 genomes]
rs2645298	0.85[AFR][1000 genomes]
rs2645304	0.88[AFR][1000 genomes]
rs2645306	1.00[LWK][hapmap];0.93[YRI][hapmap]
rs2645307	0.93[YRI][hapmap]
rs2765535	0.88[AFR][1000 genomes]
rs2799756	0.85[AFR][1000 genomes]
rs2799757	0.88[AFR][1000 genomes]
rs2799758	0.88[AFR][1000 genomes]
rs2810933	0.88[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2810934	0.87[AFR][1000 genomes]
rs56101873	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56184857	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61806199	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61806202	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61806231	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74112208	0.88[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	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:21 , 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	chr1:119437800-119461200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:119445800-119477200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:119446600-119470800	Strong transcription	Fetal Muscle Trunk	muscle
5	chr1:119448000-119461800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:119448400-119459000	Strong transcription	Osteobl	bone
7	chr1:119450400-119462800	Weak transcription	Psoas Muscle	Psoas
8	chr1:119452400-119462400	Strong transcription	Skeletal Muscle Female	skeletal muscle
9	chr1:119452600-119459000	Strong transcription	NHDF-Ad	bronchial
10	chr1:119453800-119469800	Weak transcription	HSMMtube	muscle
11	chr1:119454400-119464600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:119454600-119465800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:119455400-119458600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:119455800-119458600	Weak transcription	HSMM	muscle
15	chr1:119456000-119458800	Enhancers	HepG2	liver
16	chr1:119456400-119469200	Strong transcription	Fetal Muscle Leg	muscle
17	chr1:119456600-119464600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:119457400-119461200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:119457600-119461600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:119457800-119467600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:119458000-119459800	Weak transcription	Adipose Nuclei	Adipose

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