Variant report

Variant	rs2142121
Chromosome Location	chr21:41426578-41426579
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:41425806..41428371-chr21:41490986..41493466,2	MCF-7	breast:
2	chr21:41426112..41427143-chr21:41492585..41493263,5	MCF-7	breast:
3	chr21:41424851..41427690-chr21:41488709..41491459,2	MCF-7	breast:
4	chr21:41425304..41429090-chr21:41430409..41436331,6	MCF-7	breast:
5	chr21:41424974..41427053-chr21:41456157..41458789,2	MCF-7	breast:
6	chr21:41424959..41427753-chr21:41689262..41692026,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10470192	0.82[AMR][1000 genomes]
rs10470193	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12627033	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12627061	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1882780	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837383	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837384	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2837396	0.82[AMR][1000 genomes]
rs2837405	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2837410	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2837413	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2837417	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs2837418	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs2837419	0.81[AMR][1000 genomes]
rs2837421	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2837422	0.82[AMR][1000 genomes]
rs28582765	0.87[EUR][1000 genomes]
rs2860103	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9976662	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9979120	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065086	chr21:41034806-41429078	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv544445	chr21:41034806-41429078	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv913745	chr21:41423346-41473566	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41411200-41428800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr21:41418600-41427600	Enhancers	Rectal Smooth Muscle	rectum
3	chr21:41420800-41435600	Weak transcription	Aorta	Aorta
4	chr21:41421800-41435400	Weak transcription	Right Atrium	heart
5	chr21:41422000-41426800	Weak transcription	Fetal Lung	lung
6	chr21:41423400-41427200	Enhancers	Colon Smooth Muscle	Colon
7	chr21:41423800-41426800	Enhancers	Fetal Brain Male	brain
8	chr21:41423800-41427200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr21:41423800-41427200	Enhancers	Stomach Smooth Muscle	stomach
10	chr21:41424400-41426600	Enhancers	Fetal Brain Female	brain
11	chr21:41424400-41427400	Enhancers	Fetal Stomach	stomach
12	chr21:41424600-41426800	Enhancers	Left Ventricle	heart
13	chr21:41425200-41428400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:41425400-41426600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:41425600-41426800	Enhancers	Gastric	stomach
16	chr21:41425800-41428600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr21:41426000-41426600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr21:41426200-41426600	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr21:41426200-41426800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:41426200-41426800	Enhancers	Pancreas	Pancrea
21	chr21:41426200-41426800	Enhancers	Right Ventricle	heart
22	chr21:41426200-41427600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:41426400-41429000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr21:41426400-41429200	Weak transcription	Brain Anterior Caudate	brain

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