Variant report

Variant	rs2500222
Chromosome Location	chr1:154121476-154121477
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11802893	1.00[YRI][hapmap]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs1194597	0.91[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194601	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1194605	0.87[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12026177	0.91[YRI][hapmap]
rs12028949	0.91[YRI][hapmap]
rs1205590	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs16835846	0.91[YRI][hapmap]
rs16835852	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs2633434	0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs3811455	0.91[YRI][hapmap]
rs3935419	0.91[YRI][hapmap]
rs4406621	1.00[EUR][1000 genomes]
rs4620534	1.00[YRI][hapmap]
rs4845369	1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs55650526	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	1.00[EUR][1000 genomes]
rs56752149	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56760430	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011078	1.00[AMR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs59651124	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60506384	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60743909	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6666943	1.00[EUR][1000 genomes]
rs715737	1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7547692	1.00[EUR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv520398	chr1:154068196-154141908	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000153	chr1:154074249-154152417	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv872451	chr1:154101519-154139757	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154112200-154138400	Weak transcription	Psoas Muscle	Psoas
2	chr1:154114600-154126800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:154119600-154127000	Weak transcription	Esophagus	oesophagus
4	chr1:154120000-154122200	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr1:154120200-154123600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr1:154120600-154122200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:154120800-154121600	Enhancers	K562	blood
8	chr1:154120800-154122000	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:154120800-154122000	Enhancers	GM12878-XiMat	blood
10	chr1:154120800-154122000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr1:154120800-154122200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:154120800-154122600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:154121000-154121600	Weak transcription	Spleen	Spleen
14	chr1:154121000-154121600	Enhancers	HUVEC	blood vessel
15	chr1:154121000-154125200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr1:154121000-154127000	Weak transcription	Pancreas	Pancrea
17	chr1:154121200-154121600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:154121200-154121600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:154121200-154121800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:154121400-154121600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:154121400-154121600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:154121400-154121600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:154121400-154121600	Enhancers	HSMM	muscle
24	chr1:154121400-154127000	Weak transcription	A549	lung

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