Variant report

Variant	rs17198717
Chromosome Location	chr2:182235496-182235497
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11690881	0.90[ASN][1000 genomes]
rs17198633	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17198689	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198696	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198703	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17198710	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270868	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270882	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17270889	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17270896	0.96[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17270903	0.90[ASN][1000 genomes]
rs17365432	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs35262123	0.90[ASN][1000 genomes]
rs62180242	0.81[ASN][1000 genomes]
rs62180243	0.81[ASN][1000 genomes]
rs62180246	0.81[ASN][1000 genomes]
rs62180252	0.86[ASN][1000 genomes]
rs62180253	0.91[ASN][1000 genomes]
rs62180258	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62182269	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62189833	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62189855	0.93[ASN][1000 genomes]
rs62189857	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62189858	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs62189859	0.96[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6726597	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6726903	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646799	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182224600-182235800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr2:182226800-182236000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:182227400-182236000	Weak transcription	Thymus	Thymus
4	chr2:182228000-182236000	Weak transcription	GM12878-XiMat	blood
5	chr2:182228200-182235800	Weak transcription	Fetal Thymus	thymus
6	chr2:182229600-182235800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:182233200-182237200	Weak transcription	Fetal Kidney	kidney
8	chr2:182233400-182235800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr2:182234000-182238200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:182234400-182238400	Enhancers	Dnd41	blood
11	chr2:182235000-182237400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:182235000-182237600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:182235200-182235600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:182235200-182235600	Weak transcription	HSMMtube	muscle
15	chr2:182235400-182237800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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