Variant report

Variant	rs1006923
Chromosome Location	chr2:145775399-145775400
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	chr2:145774729..145777688-chr2:145783583..145786278,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10206585	0.80[ASN][1000 genomes]
rs10928241	0.90[ASN][1000 genomes]
rs1125128	0.90[ASN][1000 genomes]
rs12474485	0.90[ASN][1000 genomes]
rs12476923	0.90[ASN][1000 genomes]
rs12477111	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12691704	0.90[ASN][1000 genomes]
rs12992411	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12995180	0.90[ASN][1000 genomes]
rs13009019	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13015800	0.90[ASN][1000 genomes]
rs13384504	0.90[ASN][1000 genomes]
rs13389190	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428423	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407477	0.91[AFR][1000 genomes]
rs1830318	0.90[ASN][1000 genomes]
rs1830320	0.90[ASN][1000 genomes]
rs1881409	0.90[ASN][1000 genomes]
rs1881410	0.90[ASN][1000 genomes]
rs2056751	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2663966	0.85[ASN][1000 genomes]
rs34029033	0.90[ASN][1000 genomes]
rs34372836	0.85[ASN][1000 genomes]
rs35462154	0.90[ASN][1000 genomes]
rs35805189	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55855159	1.00[AFR][1000 genomes]
rs6430076	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6430078	0.85[ASN][1000 genomes]
rs6707062	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6721988	0.90[ASN][1000 genomes]
rs6747171	0.90[ASN][1000 genomes]
rs6747275	0.90[ASN][1000 genomes]
rs6749506	0.90[ASN][1000 genomes]
rs7423637	0.90[ASN][1000 genomes]
rs7562803	0.90[ASN][1000 genomes]
rs786244	0.82[EUR][1000 genomes]
rs787427	0.80[ASN][1000 genomes]
rs957292	0.90[ASN][1000 genomes]
rs957293	0.90[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	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv431768	chr2:145741527-145981491	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145770000-145780400	Weak transcription	Ovary	ovary
2	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
5	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:145770800-145776200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:145771200-145782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:145772800-145775600	Enhancers	HUVEC	blood vessel
9	chr2:145773200-145775400	Enhancers	A549	lung
10	chr2:145773600-145779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:145773600-145780800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:145773800-145779600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:145774200-145775400	Enhancers	Hela-S3	cervix
14	chr2:145774400-145775600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:145774600-145778200	Weak transcription	NHDF-Ad	bronchial
16	chr2:145774800-145775400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:145775000-145775400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:145775200-145776000	Weak transcription	NHLF	lung
19	chr2:145775200-145778200	Weak transcription	Osteobl	bone

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