Variant report

Variant	rs1729988
Chromosome Location	chr3:98318393-98318394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:98316857..98318853-chr3:98318886..98321058,2	K562	blood:
2	chr3:98314191..98315885-chr3:98317245..98319751,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1000003	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs1131857	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1381089	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1381091	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1461157	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1531377	1.00[CHB][hapmap]
rs1675513	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1675534	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs1729977	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34026496	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3796137	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3796138	1.00[CHB][hapmap]
rs3796139	0.90[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs4857407	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6440000	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6440016	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs6440017	1.00[CHB][hapmap]
rs6440022	1.00[CHB][hapmap]
rs6790842	1.00[CHB][hapmap]
rs6803092	1.00[CHB][hapmap]
rs7611858	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7630058	0.93[CHB][hapmap]
rs7641726	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap]
rs7653204	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap]
rs9840957	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834775	chr3:98170059-98367552	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv3390386	chr3:98174549-98579953	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
4	nsv997484	chr3:98284283-98371420	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1000357	chr3:98284283-98381473	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv524042	chr3:98317836-98436188	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98313000-98321400	Enhancers	Liver	Liver
2	chr3:98313200-98321200	Weak transcription	Fetal Thymus	thymus
3	chr3:98313200-98322600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr3:98315200-98321000	Enhancers	HepG2	liver
5	chr3:98315800-98319400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:98316000-98319600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr3:98317200-98321000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:98317200-98322400	Weak transcription	K562	blood
9	chr3:98317400-98322200	Weak transcription	Thymus	Thymus
10	chr3:98317800-98322400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:98318000-98318400	Weak transcription	GM12878-XiMat	blood

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