Variant report

Variant	rs2247742
Chromosome Location	chr1:77921302-77921303
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:77921085..77922775-chr1:77926149..77927657,2	K562	blood:
2	chr1:77921275..77923529-chr1:77924808..77927657,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10782651	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10873942	1.00[ASN][1000 genomes]
rs11162348	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11162350	0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs12044354	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12047928	0.84[CEU][hapmap];0.88[EUR][1000 genomes]
rs12066994	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12732787	0.98[ASN][1000 genomes]
rs12741939	0.89[EUR][1000 genomes]
rs1498405	0.84[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874817	1.00[CEU][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874819	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2221084	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2247536	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2251456	0.95[CEU][hapmap];0.89[JPT][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2647503	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2647504	0.83[ASN][1000 genomes]
rs2647506	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2647525	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2803162	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2803165	0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3112826	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3112827	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3113637	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap]
rs3121778	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6603950	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs6687876	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6704141	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs7534707	1.00[ASN][1000 genomes]
rs7542588	0.81[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv462095	chr1:77903611-77951460	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv546592	chr1:77903611-77951460	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77907800-77927000	Weak transcription	HSMMtube	muscle
2	chr1:77911000-77925600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:77911200-77934000	Weak transcription	HSMM	muscle
4	chr1:77912800-77925000	Weak transcription	NHDF-Ad	bronchial
5	chr1:77913000-77934400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:77913200-77930000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:77913200-77937000	Weak transcription	Primary T cells from cord blood	blood
8	chr1:77913200-77968400	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:77913400-77929400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:77914000-77924400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:77914600-77955600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:77914800-77925000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:77915000-77922000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:77915200-77924600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:77915200-77933600	Weak transcription	NHLF	lung

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