Variant report

Variant	rs3856365
Chromosome Location	chr2:145594328-145594329
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145276106..145279120-chr2:145591555..145594624,3	K562	blood:
2	chr2:145593121..145596607-chr2:145597907..145600679,5	K562	blood:

Variant related genes	Relation type
ENSG00000238057	Chromatin interaction
ENSG00000169554	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10181009	0.98[ASN][1000 genomes]
rs10196836	1.00[ASN][1000 genomes]
rs1038363	0.83[ASN][1000 genomes]
rs1085460	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1085461	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1092395	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10928230	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11899456	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13018654	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13028678	0.99[ASN][1000 genomes]
rs13396130	0.98[ASN][1000 genomes]
rs1384781	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1528186	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2381663	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60111010	0.82[ASN][1000 genomes]
rs706624	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs706625	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs786486	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs786487	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs786489	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs786490	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs786492	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs786493	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs786494	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs786495	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs786498	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs786499	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786500	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs786502	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9646654	1.00[ASN][1000 genomes]
rs987762	0.85[AMR][1000 genomes];0.98[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	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	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145592000-145594400	Enhancers	Fetal Lung	lung
2	chr2:145592000-145594400	Enhancers	HMEC	breast
3	chr2:145592000-145594600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:145592000-145595200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:145592000-145595600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:145592200-145595000	Enhancers	NHDF-Ad	bronchial
7	chr2:145592400-145594400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:145592400-145594400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:145592400-145594600	Enhancers	Fetal Kidney	kidney
10	chr2:145592400-145594600	Enhancers	Fetal Muscle Leg	muscle
11	chr2:145592600-145594400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:145592600-145594600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:145592600-145594600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:145592600-145595400	Enhancers	HUVEC	blood vessel
15	chr2:145592800-145594600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:145593000-145594600	Enhancers	Ovary	ovary
17	chr2:145593000-145594800	Enhancers	NH-A	brain
18	chr2:145593200-145594600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:145593200-145594600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:145593200-145594600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:145593400-145594600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:145593400-145595400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:145593600-145594400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:145593600-145594400	Weak transcription	Adipose Nuclei	Adipose
25	chr2:145593800-145595000	Enhancers	A549	lung
26	chr2:145594200-145594600	Enhancers	NHLF	lung
27	chr2:145594200-145594800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:145594200-145594800	Flanking Active TSS	Osteobl	bone

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