Variant report

Variant	rs73926969
Chromosome Location	chr2:47160897-47160898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47152236..47154946-chr2:47158648..47161233,3	K562	blood:
2	chr2:47159700..47162383-chr2:47166830..47168688,2	MCF-7	breast:
3	chr2:47160863..47164193-chr2:47400437..47404755,4	K562	blood:
4	chr2:47160386..47162662-chr2:47182843..47185393,2	MCF-7	breast:
5	chr2:47142431..47146258-chr2:47159598..47162357,3	K562	blood:
6	chr2:47141885..47146886-chr2:47158240..47162628,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction
ENSG00000068724	Chromatin interaction
ENSG00000143933	Chromatin interaction
ENSG00000272814	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56313712	1.00[EUR][1000 genomes]
rs58517631	0.82[AFR][1000 genomes]
rs60694631	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926957	1.00[AFR][1000 genomes]
rs73926959	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926961	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73926963	1.00[AFR][1000 genomes]
rs73926979	1.00[EUR][1000 genomes]
rs73926981	0.94[AFR][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	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
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47144200-47166600	Weak transcription	Pancreas	Pancrea
2	chr2:47144600-47164600	Weak transcription	Spleen	Spleen
3	chr2:47144800-47167000	Weak transcription	Fetal Lung	lung
4	chr2:47146000-47167400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:47150600-47166600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:47150600-47167000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr2:47151000-47166800	Weak transcription	Small Intestine	intestine
8	chr2:47153400-47164400	Weak transcription	Thymus	Thymus
9	chr2:47153800-47166600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:47154000-47166400	Weak transcription	Hela-S3	cervix
11	chr2:47154400-47163600	Weak transcription	Osteobl	bone
12	chr2:47154400-47166800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:47155200-47164400	Weak transcription	Fetal Thymus	thymus
14	chr2:47155800-47166600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:47157200-47161000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:47157200-47166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:47157400-47166600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:47159400-47163000	Enhancers	Primary B cells from peripheral blood	blood
19	chr2:47159800-47161600	Enhancers	Primary B cells from cord blood	blood
20	chr2:47160000-47167200	Weak transcription	Fetal Stomach	stomach
21	chr2:47160400-47162200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:47160600-47162400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr2:47160600-47166800	Weak transcription	GM12878-XiMat	blood

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