Variant report

Variant	rs2250546
Chromosome Location	chr2:145770621-145770622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10204459	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12993495	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12996204	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1347828	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1528412	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1528413	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16855349	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1881411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898731	0.96[CEU][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2243647	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2243648	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2246114	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2246142	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2246245	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249681	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2249798	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2249819	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2250164	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2250518	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2579024	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs718229	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7589308	0.81[AMR][1000 genomes];0.91[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145768000-145772000	Enhancers	Fetal Heart	heart
2	chr2:145768400-145771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145769200-145770800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:145769200-145771200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:145769400-145772000	Weak transcription	Right Atrium	heart
6	chr2:145769600-145770800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:145769600-145770800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:145769600-145770800	Enhancers	HSMM	muscle
9	chr2:145769800-145770800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:145769800-145770800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:145769800-145770800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr2:145769800-145770800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:145769800-145770800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:145769800-145770800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr2:145769800-145770800	Enhancers	NH-A	brain
16	chr2:145769800-145771200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:145769800-145771200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:145769800-145771200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:145770000-145770800	Enhancers	NHDF-Ad	bronchial
20	chr2:145770000-145780400	Weak transcription	Ovary	ovary
21	chr2:145770200-145770800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:145770200-145770800	Enhancers	Hela-S3	cervix
23	chr2:145770200-145770800	Enhancers	Osteobl	bone
24	chr2:145770200-145771200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:145770200-145771400	Weak transcription	Psoas Muscle	Psoas
26	chr2:145770200-145771800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:145770400-145771000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:145770400-145771200	Enhancers	Aorta	Aorta
29	chr2:145770400-145773200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:145770400-145774400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:145770400-145778200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:145770600-145770800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:145770600-145771600	Enhancers	A549	lung
34	chr2:145770600-145771800	Enhancers	HUVEC	blood vessel
35	chr2:145770600-145772800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:145770600-145779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:145770600-145779400	Weak transcription	Fetal Lung	lung
38	chr2:145770600-145779600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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