Variant report

Variant	rs1347730
Chromosome Location	chr2:178574446-178574447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178454525..178456445-chr2:178573217..178575511,2	K562	blood:
2	chr2:178570926..178572812-chr2:178573756..178576490,2	K562	blood:
3	chr2:178573812..178575590-chr2:178578150..178581099,2	K562	blood:
4	chr2:178567581..178570235-chr2:178573899..178577717,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1004541	0.83[YRI][hapmap]
rs10166758	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs10173243	0.95[EUR][1000 genomes]
rs10178433	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs10192481	0.83[YRI][hapmap]
rs10201180	0.82[YRI][hapmap]
rs12465589	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13412319	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1370662	0.83[YRI][hapmap]
rs1370664	0.88[YRI][hapmap]
rs1465830	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2033761	1.00[CEU][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2164859	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2365623	1.00[CEU][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2365625	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs3770027	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4893983	0.95[EUR][1000 genomes]
rs4893985	0.83[YRI][hapmap]
rs6433692	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6737254	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6749088	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6756994	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7573820	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs934809	0.84[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv431812	chr2:178525371-178584470	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1007925	chr2:178535922-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv870023	chr2:178545623-178581407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1005854	chr2:178546907-178586608	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2762967	chr2:178546919-178577002	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1005991	chr2:178550049-178577002	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1003983	chr2:178551958-178577002	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178558200-178576600	Weak transcription	Pancreas	Pancrea
2	chr2:178563000-178574800	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:178573600-178574800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:178573600-178575000	Enhancers	Fetal Heart	heart
5	chr2:178573600-178575000	Enhancers	Left Ventricle	heart
6	chr2:178573600-178575600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:178573600-178577600	Enhancers	Fetal Kidney	kidney
8	chr2:178574200-178575600	Enhancers	K562	blood
9	chr2:178574200-178579200	Weak transcription	Brain Anterior Caudate	brain
10	chr2:178574200-178579400	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:178574200-178579600	Weak transcription	Brain Germinal Matrix	brain
12	chr2:178574200-178580600	Weak transcription	Brain Angular Gyrus	brain
13	chr2:178574400-178579600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:178574400-178579600	Weak transcription	Brain Substantia Nigra	brain

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