Variant report

Variant	rs10439469
Chromosome Location	chr2:46992896-46992897
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46992530..46995162-chr2:46996184..46999051,3	K562	blood:
2	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:
3	chr2:46990483..46993440-chr2:46995579..46997950,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10187320	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10192254	0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10196768	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10204610	1.00[ASN][1000 genomes]
rs10221923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10439427	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12151534	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12329330	0.88[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13391877	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13402099	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13412085	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13420535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13421701	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs13424717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13426735	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13432741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17770970	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17771838	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35750425	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][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	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46981800-46993200	Weak transcription	Fetal Heart	heart
3	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
4	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:46987000-46993000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr2:46987200-46995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:46987200-46996200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:46987200-46997800	Weak transcription	Liver	Liver
10	chr2:46987400-46993200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr2:46987400-46993400	Weak transcription	Pancreas	Pancrea
12	chr2:46987400-46997000	Weak transcription	Fetal Lung	lung
13	chr2:46987400-46997400	Weak transcription	Fetal Stomach	stomach
14	chr2:46987400-46997600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:46987400-46997600	Weak transcription	Fetal Intestine Small	intestine
16	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
18	chr2:46987600-46993800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:46987600-46995000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:46987600-46997000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:46987600-46997200	Weak transcription	HSMM	muscle
22	chr2:46987600-46997400	Weak transcription	Fetal Intestine Large	intestine
23	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:46987800-46997200	Weak transcription	NH-A	brain
25	chr2:46988200-46993400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:46988200-46993800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:46988200-46997400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:46989400-46997200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:46991200-46995800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:46991400-46993600	Weak transcription	HepG2	liver
31	chr2:46991600-46997200	Weak transcription	Ovary	ovary
32	chr2:46992000-46993800	Weak transcription	Primary B cells from cord blood	blood
33	chr2:46992000-46995200	Weak transcription	A549	lung
34	chr2:46992000-46997000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:46992200-46995000	Weak transcription	Osteobl	bone
36	chr2:46992200-46995600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:46992200-46995600	Weak transcription	NHDF-Ad	bronchial
38	chr2:46992200-46997000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:46992200-46997000	Weak transcription	NHLF	lung
40	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr2:46992600-46993400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:46992800-46993000	Active TSS	Primary hematopoietic stem cells	blood

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