Variant report

Variant	rs911123
Chromosome Location	chr20:23626648-23626649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23615491..23618366-chr20:23625789..23627708,2	MCF-7	breast:
2	chr20:23615462..23617688-chr20:23624542..23627030,2	MCF-7	breast:
3	chr20:23610829..23612765-chr20:23625069..23626806,2	MCF-7	breast:
4	chr20:23616713..23621069-chr20:23626234..23629659,5	K562	blood:

Variant related genes	Relation type
ENSG00000101439	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2180662	0.81[AFR][1000 genomes]
rs2243863	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs238645	1.00[MEX][hapmap]
rs238646	1.00[MEX][hapmap]
rs238650	1.00[MEX][hapmap]
rs2405391	1.00[MEX][hapmap]
rs2424579	1.00[MEX][hapmap]
rs2983618	1.00[MEX][hapmap]
rs3004138	1.00[MEX][hapmap]
rs911121	1.00[ASW][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs911124	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23618800-23628600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr20:23622200-23636600	Weak transcription	Pancreas	Pancrea
3	chr20:23622800-23640000	Weak transcription	Stomach Mucosa	stomach
4	chr20:23623000-23634200	Weak transcription	Right Atrium	heart
5	chr20:23623200-23626800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr20:23623200-23636200	Weak transcription	Lung	lung
7	chr20:23623600-23626800	Weak transcription	NHEK	skin
8	chr20:23623600-23627200	Weak transcription	HMEC	breast
9	chr20:23623800-23627000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr20:23624200-23633000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr20:23624400-23627400	Weak transcription	HepG2	liver
12	chr20:23624600-23626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr20:23624600-23633000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr20:23625000-23627400	Enhancers	GM12878-XiMat	blood
15	chr20:23625000-23627600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr20:23625600-23626800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr20:23625800-23626800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr20:23626000-23627400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:23626400-23627600	Enhancers	Primary hematopoietic stem cells	blood
20	chr20:23626400-23627600	Enhancers	Fetal Thymus	thymus
21	chr20:23626400-23627800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr20:23626600-23626800	Enhancers	Fetal Muscle Leg	muscle
23	chr20:23626600-23627400	Enhancers	HUVEC	blood vessel
24	chr20:23626600-23627600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr20:23626600-23628600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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