Variant report

Variant	rs1531232
Chromosome Location	chr1:92003477-92003478
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	STAT3	chr1:92003398-92003490	MCF10A-Er-Src	breast:	n/a	chr1:92003463-92003470 chr1:92003409-92003417
2	STAT3	chr1:92002992-92003637	MCF10A-Er-Src	breast:	n/a	chr1:92003463-92003470 chr1:92003409-92003417
3	CEBPB	chr1:92002752-92003563	IMR90	lung:	n/a	chr1:92003409-92003418 chr1:92003339-92003352 chr1:92003409-92003420 chr1:92003409-92003418 chr1:92003409-92003418 chr1:92003407-92003420 chr1:92003407-92003420 chr1:92003409-92003418
4	MYC	chr1:92002839-92003501	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr1:92002954-92003618	MCF10A-Er-Src	breast:	n/a	chr1:92003463-92003470 chr1:92003409-92003417
6	FOS	chr1:92002916-92003597	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr1:92002969-92003549	Hela-S3	cervix:	n/a	chr1:92003409-92003418 chr1:92003339-92003352 chr1:92003409-92003420 chr1:92003409-92003418 chr1:92003409-92003418 chr1:92003407-92003420 chr1:92003407-92003420 chr1:92003409-92003418
8	FOS	chr1:92002926-92003581	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr1:92003206-92003598	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr1:92003071-92003493	MCF10A-Er-Src	breast:	n/a	chr1:92003432-92003441
11	MYC	chr1:92002901-92003580	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:91981144..91983641-chr1:92002927..92005643,2	K562	blood:
2	chr1:92002307..92004787-chr1:92005298..92007130,2	K562	blood:
3	chr1:92002164..92004787-chr1:92005220..92009232,4	K562	blood:
4	chr1:91988742..91991718-chr1:92001442..92003579,3	K562	blood:

Variant related genes	Relation type
ENSG00000241318	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10399689	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10399810	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10399813	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10399814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10493849	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10493850	1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10493851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782953	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10874496	0.82[CEU][hapmap]
rs10874758	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10874782	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11164877	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11164899	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11164913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11164915	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12024529	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12025632	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12027099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12028436	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12029889	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12031239	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12035234	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12035345	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12036176	0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12036298	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12046667	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12057283	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12070660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12758662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12759236	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12759724	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13447523	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1508588	1.00[CEU][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes]
rs1876264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2219394	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2297709	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2893175	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35504045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4658225	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs745732	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:91967800-92009600	Weak transcription	Thymus	Thymus
2	chr1:91999200-92005800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:92001200-92005000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:92001400-92006800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:92002000-92004200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92002200-92003600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:92002200-92003600	Enhancers	Osteobl	bone
8	chr1:92002200-92003800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:92002200-92003800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:92002200-92004200	Enhancers	NHDF-Ad	bronchial
11	chr1:92002400-92003600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:92002400-92003800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:92002400-92003800	Enhancers	NHLF	lung
14	chr1:92002600-92003600	Enhancers	Fetal Lung	lung
15	chr1:92002600-92003800	Enhancers	Adipose Nuclei	Adipose
16	chr1:92002600-92003800	Enhancers	Ovary	ovary
17	chr1:92002800-92003600	Enhancers	Fetal Heart	heart
18	chr1:92002800-92003800	Enhancers	Colon Smooth Muscle	Colon
19	chr1:92003000-92013800	Weak transcription	Spleen	Spleen
20	chr1:92003200-92004000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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