Variant report

Variant	rs73999271
Chromosome Location	chr2:235125493-235125494
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56143539	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61490499	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6742442	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755661	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121227	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73121231	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73121234	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121235	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121237	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121253	0.81[AFR][1000 genomes];0.83[AMR][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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235113800-235125800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:235114000-235125800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:235121800-235126800	Weak transcription	Adipose Nuclei	Adipose
4	chr2:235122000-235125800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:235122200-235125800	Weak transcription	Pancreas	Pancrea
6	chr2:235123400-235128800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:235123600-235128200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr2:235123600-235128200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr2:235123800-235128200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:235124000-235127200	Weak transcription	Spleen	Spleen
11	chr2:235124000-235128000	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr2:235124000-235128400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr2:235124400-235128800	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:235124600-235127600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr2:235124600-235129000	Enhancers	Dnd41	blood
16	chr2:235124800-235126200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:235124800-235127600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr2:235124800-235128000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:235124800-235128000	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr2:235125000-235126000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:235125200-235125600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:235125200-235125800	Flanking Active TSS	Primary T cells from cord blood	blood

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