Variant report

Variant	rs13421701
Chromosome Location	chr2:46998628-46998629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:
2	chr2:46992530..46995162-chr2:46996184..46999051,3	K562	blood:
3	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10187320	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10192254	0.87[AFR][1000 genomes]
rs10196768	0.87[AFR][1000 genomes]
rs10204610	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10221923	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10439427	0.93[AFR][1000 genomes]
rs10439469	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12151534	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12329330	0.93[AFR][1000 genomes]
rs13391877	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13402099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes]
rs13412085	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13420535	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13424717	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13432741	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17770970	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17771838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs35750425	0.87[AFR][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3326935	chr2:46998572-46998903	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
5	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:46995000-46999000	Enhancers	Osteobl	bone
8	chr2:46995200-46999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:46997000-46999000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:46997400-46998800	Enhancers	NHDF-Ad	bronchial
12	chr2:46998200-46998800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:46998200-46999000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:46998200-47000800	Enhancers	HepG2	liver
15	chr2:46998200-47001800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:46998400-46998800	Weak transcription	NHLF	lung
17	chr2:46998400-47000200	Enhancers	A549	lung
18	chr2:46998600-46998800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:46998600-46998800	Enhancers	Fetal Brain Male	brain
20	chr2:46998600-46998800	Enhancers	Ovary	ovary
21	chr2:46998600-46999000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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