Variant report

Variant	rs73996596
Chromosome Location	chr2:235058065-235058066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16850508	0.87[AMR][1000 genomes]
rs16850525	1.00[AMR][1000 genomes]
rs55929709	0.89[AFR][1000 genomes]
rs57644671	0.85[AMR][1000 genomes]
rs61622207	0.91[AFR][1000 genomes]
rs73996589	0.96[AFR][1000 genomes];1.00[AMR][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	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	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235055000-235059000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
2	chr2:235055000-235059200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr2:235055000-235059400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr2:235055000-235059600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:235055200-235059000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:235056600-235059000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:235056600-235059200	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr2:235056600-235059400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:235056800-235059000	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr2:235056800-235059400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:235057000-235058800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:235057000-235059000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:235057000-235059000	Weak transcription	A549	lung
14	chr2:235057000-235059200	Enhancers	Primary T cells from cord blood	blood
15	chr2:235057200-235059400	Enhancers	Dnd41	blood
16	chr2:235057400-235072800	Weak transcription	Thymus	Thymus
17	chr2:235057600-235058600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:235057800-235058200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:235057800-235058200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:235057800-235058200	Weak transcription	Fetal Thymus	thymus
21	chr2:235057800-235058600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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