Variant report

Variant	rs34985138
Chromosome Location	chr2:145773702-145773703
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	chr2:145766027..145767852-chr2:145771285..145773781,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496971	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11679718	0.81[AMR][1000 genomes]
rs11689317	0.89[AMR][1000 genomes]
rs12616953	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12621647	0.88[AMR][1000 genomes]
rs12990953	0.81[ASN][1000 genomes]
rs13001583	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13004410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13009916	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13010262	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13010313	0.88[AMR][1000 genomes]
rs13033869	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1371047	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16824386	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1898732	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2381685	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34409381	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34948552	0.88[AMR][1000 genomes]
rs35844147	0.81[AMR][1000 genomes]
rs4662406	0.81[AMR][1000 genomes]
rs4662413	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56014517	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56795645	0.82[AMR][1000 genomes]
rs67431032	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs67969609	0.91[AMR][1000 genomes];0.84[EUR][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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145770000-145780400	Weak transcription	Ovary	ovary
2	chr2:145770400-145774400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
6	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:145770800-145774200	Weak transcription	Hela-S3	cervix
8	chr2:145770800-145774200	Weak transcription	NHDF-Ad	bronchial
9	chr2:145770800-145774800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:145770800-145776200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:145771200-145774400	Weak transcription	Aorta	Aorta
12	chr2:145771200-145782600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:145772800-145773800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:145772800-145773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:145772800-145773800	Enhancers	NH-A	brain
16	chr2:145772800-145775600	Enhancers	HUVEC	blood vessel
17	chr2:145773000-145775200	Enhancers	Osteobl	bone
18	chr2:145773200-145775000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:145773200-145775400	Enhancers	A549	lung
20	chr2:145773600-145773800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:145773600-145779600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr2:145773600-145780800	Weak transcription	Muscle Satellite Cultured Cells	--

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