Variant report

Variant	rs2282821
Chromosome Location	chr6:15485378-15485379
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:15210456..15213396-chr6:15484350..15486764,2	K562	blood:
2	chr6:15483229..15486068-chr6:15489614..15491902,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2076055	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2237113	0.89[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237117	0.91[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs2237118	0.84[ASN][1000 genomes]
rs2237119	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.96[LWK][hapmap];0.95[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2237121	0.91[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs2237123	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2237124	0.87[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2237145	0.87[CHB][hapmap]
rs2237150	0.82[CHB][hapmap]
rs2282825	0.82[CHB][hapmap]
rs2299045	0.86[CHB][hapmap];0.93[CHD][hapmap];0.80[ASN][1000 genomes]
rs4085876	0.82[CHB][hapmap]
rs7754701	0.87[CHB][hapmap]
rs9349979	0.86[ASN][1000 genomes]
rs9370817	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9370819	0.86[ASN][1000 genomes]
rs9383061	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2282821	SIRT5	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15435800-15487600	Weak transcription	Colonic Mucosa	Colon
2	chr6:15461600-15491000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:15471000-15488200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:15471000-15502000	Weak transcription	A549	lung
5	chr6:15471400-15488200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:15476000-15487400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:15476200-15486600	Weak transcription	Dnd41	blood
8	chr6:15476200-15487200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:15476400-15487200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:15476600-15486600	Weak transcription	GM12878-XiMat	blood
11	chr6:15476600-15487000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:15476600-15487200	Weak transcription	Fetal Intestine Large	intestine
13	chr6:15476800-15487000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr6:15476800-15487600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr6:15477600-15486200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:15477600-15487400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr6:15477600-15487600	Weak transcription	HepG2	liver
18	chr6:15478200-15487600	Weak transcription	Ovary	ovary
19	chr6:15478400-15485800	Weak transcription	Colon Smooth Muscle	Colon
20	chr6:15478400-15487600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:15478600-15487400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:15478800-15486400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:15479400-15486200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:15480200-15486200	Weak transcription	Primary B cells from cord blood	blood
25	chr6:15480200-15486200	Weak transcription	Lung	lung
26	chr6:15480200-15486200	Weak transcription	Right Ventricle	heart
27	chr6:15480200-15487400	Weak transcription	Esophagus	oesophagus
28	chr6:15480200-15487400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:15480400-15486000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:15480400-15486200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:15480400-15486200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr6:15480400-15487200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr6:15480400-15487200	Weak transcription	Brain Anterior Caudate	brain
34	chr6:15480400-15487400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:15480400-15487400	Weak transcription	Adipose Nuclei	Adipose
36	chr6:15480400-15487800	Weak transcription	NHLF	lung
37	chr6:15480400-15488200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:15480400-15490600	Weak transcription	NHDF-Ad	bronchial
39	chr6:15480600-15485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:15480600-15485600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:15480600-15488400	Weak transcription	NH-A	brain
42	chr6:15480800-15486000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:15480800-15486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr6:15480800-15487400	Weak transcription	Spleen	Spleen
45	chr6:15480800-15487600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:15480800-15487600	Weak transcription	Fetal Brain Female	brain
47	chr6:15480800-15487600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr6:15480800-15487800	Weak transcription	Osteobl	bone
49	chr6:15480800-15488200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr6:15481200-15485600	Weak transcription	HMEC	breast

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