Variant report

Variant	rs1357719
Chromosome Location	chr2:100252159-100252160
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100251850..100255492-chr2:100257476..100259432,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10167554	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11123790	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11684088	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12620982	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12712049	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12712054	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13029690	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1996984	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2030691	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2030692	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2030693	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2049400	0.83[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177541	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2177542	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2309729	0.82[EUR][1000 genomes]
rs2871316	0.82[EUR][1000 genomes]
rs3792129	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3792130	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3792131	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4850910	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851220	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4851221	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6542884	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738724	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6745568	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6746146	0.80[EUR][1000 genomes]
rs7561009	0.82[EUR][1000 genomes]
rs7579222	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs868665	0.80[EUR][1000 genomes]
rs9284724	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9308826	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9308827	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9678859	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100217000-100258400	Weak transcription	Primary T cells from cord blood	blood
2	chr2:100238000-100253200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:100238800-100252600	Weak transcription	Fetal Lung	lung
4	chr2:100239600-100257200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr2:100242800-100253000	Weak transcription	Fetal Brain Female	brain
6	chr2:100250400-100253000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:100251000-100252200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:100251000-100254400	Enhancers	Adipose Nuclei	Adipose
9	chr2:100251200-100252400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:100251200-100254000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:100251400-100252400	Weak transcription	Dnd41	blood
12	chr2:100251600-100252600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:100251600-100252800	Weak transcription	Fetal Brain Male	brain
14	chr2:100251600-100253000	Strong transcription	Primary B cells from cord blood	blood
15	chr2:100251800-100252400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:100251800-100254000	Enhancers	Left Ventricle	heart
17	chr2:100251800-100254400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:100251800-100258400	Enhancers	Fetal Muscle Leg	muscle
19	chr2:100252000-100252800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr2:100252000-100253600	Genic enhancers	Primary B cells from peripheral blood	blood
21	chr2:100252000-100254000	Enhancers	Pancreas	Pancrea
22	chr2:100252000-100254000	Enhancers	Right Atrium	heart
23	chr2:100252000-100254000	Enhancers	Spleen	Spleen
24	chr2:100252000-100254600	Enhancers	Thymus	Thymus
25	chr2:100252000-100254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:100252000-100255200	Enhancers	Fetal Muscle Trunk	muscle
27	chr2:100252000-100256600	Enhancers	Fetal Thymus	thymus

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