Variant report

Variant	rs1357720
Chromosome Location	chr2:100252247-100252248
allele	A/G
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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1568785	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4850906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4850909	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4851218	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55989048	0.81[EUR][1000 genomes]
rs62154537	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6749222	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][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:37 , 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	chr2:100251000-100254400	Enhancers	Adipose Nuclei	Adipose
8	chr2:100251200-100252400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:100251200-100254000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:100251400-100252400	Weak transcription	Dnd41	blood
11	chr2:100251600-100252600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:100251600-100252800	Weak transcription	Fetal Brain Male	brain
13	chr2:100251600-100253000	Strong transcription	Primary B cells from cord blood	blood
14	chr2:100251800-100252400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr2:100251800-100254000	Enhancers	Left Ventricle	heart
16	chr2:100251800-100254400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:100251800-100258400	Enhancers	Fetal Muscle Leg	muscle
18	chr2:100252000-100252800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:100252000-100253600	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr2:100252000-100254000	Enhancers	Pancreas	Pancrea
21	chr2:100252000-100254000	Enhancers	Right Atrium	heart
22	chr2:100252000-100254000	Enhancers	Spleen	Spleen
23	chr2:100252000-100254600	Enhancers	Thymus	Thymus
24	chr2:100252000-100254800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:100252000-100255200	Enhancers	Fetal Muscle Trunk	muscle
26	chr2:100252000-100256600	Enhancers	Fetal Thymus	thymus
27	chr2:100252200-100252400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:100252200-100252400	Enhancers	Gastric	stomach
29	chr2:100252200-100252600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:100252200-100252800	Enhancers	Fetal Heart	heart
31	chr2:100252200-100253600	Enhancers	Fetal Stomach	stomach
32	chr2:100252200-100253600	Enhancers	Psoas Muscle	Psoas
33	chr2:100252200-100253600	Enhancers	Stomach Smooth Muscle	stomach
34	chr2:100252200-100253800	Enhancers	Lung	lung
35	chr2:100252200-100254000	Enhancers	Brain Hippocampus Middle	brain
36	chr2:100252200-100254000	Enhancers	Colon Smooth Muscle	Colon
37	chr2:100252200-100254000	Enhancers	Right Ventricle	heart

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