Variant report

Variant	rs1076849
Chromosome Location	chr21:46049133-46049134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:46048477..46049166-chr6:83367952..83368551,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2329835	0.89[CHB][hapmap];0.94[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28542851	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs2876970	0.89[AFR][1000 genomes]
rs450639	0.84[AFR][1000 genomes]
rs6518197	0.82[AFR][1000 genomes]
rs743495	0.93[AFR][1000 genomes]
rs7509675	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs8127342	0.91[AFR][1000 genomes]
rs8129802	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs9979457	0.91[AFR][1000 genomes]
rs9980129	0.86[AFR][1000 genomes]
rs9980512	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065798	chr21:45941000-46097463	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv869108	chr21:45941000-46097463	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv544476	chr21:45941000-46097463	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv913950	chr21:45985068-46097463	Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 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	chr21:46045000-46050000	Enhancers	Primary T cells fromperipheralblood	blood
2	chr21:46045200-46050000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr21:46045400-46051000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr21:46046600-46049200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr21:46047400-46049200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:46047400-46049200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr21:46047800-46050600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr21:46047800-46051000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr21:46048400-46049200	Enhancers	Right Atrium	heart
10	chr21:46048400-46050000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46048600-46049200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr21:46048600-46049400	Bivalent Enhancer	Placenta	Placenta
13	chr21:46048600-46050200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr21:46048600-46050800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr21:46048600-46050800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr21:46048800-46050600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr21:46048800-46050600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr21:46048800-46050800	Enhancers	Primary T cells from cord blood	blood
19	chr21:46049000-46049200	Enhancers	Left Ventricle	heart
20	chr21:46049000-46050000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr21:46049000-46056800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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