Variant report

Variant	rs72821422
Chromosome Location	chr2:96053409-96053410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96049792..96051426-chr2:96053262..96055511,2	K562	blood:
2	chr2:96045032..96049113-chr2:96051583..96055963,5	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10874471	0.93[ASN][1000 genomes]
rs11164125	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11677429	0.87[AMR][1000 genomes]
rs12373651	0.87[AMR][1000 genomes]
rs12468117	0.88[AMR][1000 genomes]
rs12468777	0.93[ASN][1000 genomes]
rs12471472	0.88[AMR][1000 genomes]
rs1345917	0.88[AMR][1000 genomes]
rs1364394	0.88[AMR][1000 genomes]
rs2113419	0.89[ASN][1000 genomes]
rs2216793	0.87[AMR][1000 genomes]
rs2320431	0.90[ASN][1000 genomes]
rs3755518	0.90[ASN][1000 genomes]
rs3866290	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4854251	0.93[ASN][1000 genomes]
rs4854253	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58610630	0.90[ASN][1000 genomes]
rs61649840	0.90[ASN][1000 genomes]
rs67628541	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72821437	0.88[AMR][1000 genomes]
rs869185	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv961829	chr2:96043414-96069177	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72821422	AC008268.1	cis	lung	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96030400-96054600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:96036600-96054800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:96041000-96054800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:96041400-96054600	Weak transcription	NHDF-Ad	bronchial
5	chr2:96043400-96054800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:96045600-96054800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:96047200-96054600	Weak transcription	Brain Anterior Caudate	brain
8	chr2:96048600-96054800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:96050600-96054800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:96050800-96054600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:96050800-96054800	Weak transcription	Gastric	stomach
12	chr2:96051000-96053800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:96051200-96054800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:96051200-96055200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr2:96051200-96055400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:96051400-96054600	Weak transcription	Fetal Intestine Large	intestine
17	chr2:96051400-96054800	Weak transcription	Colonic Mucosa	Colon
18	chr2:96051600-96054600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:96051600-96067200	Weak transcription	Right Atrium	heart
20	chr2:96051800-96054800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:96052200-96054800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:96052200-96057400	Weak transcription	Spleen	Spleen
23	chr2:96052400-96054800	Weak transcription	Liver	Liver
24	chr2:96052400-96054800	Weak transcription	Fetal Intestine Small	intestine
25	chr2:96053400-96054800	Weak transcription	Ovary	ovary

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