Variant report

Variant	rs73440221
Chromosome Location	chr7:120973855-120973856
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120446018..120447563-chr7:120973530..120975197,2	K562	blood:
2	chr7:120966947..120969385-chr7:120973200..120975225,2	K562	blood:

Variant related genes	Relation type
ENSG00000002745	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10250624	0.97[ASN][1000 genomes]
rs10250907	0.97[ASN][1000 genomes]
rs11768996	0.97[ASN][1000 genomes]
rs11770098	0.97[ASN][1000 genomes]
rs11771477	0.97[ASN][1000 genomes]
rs12706336	0.97[ASN][1000 genomes]
rs12706337	0.97[ASN][1000 genomes]
rs12706338	0.97[ASN][1000 genomes]
rs12706340	0.97[ASN][1000 genomes]
rs12706341	0.97[ASN][1000 genomes]
rs12706342	0.97[ASN][1000 genomes]
rs1990447	0.97[ASN][1000 genomes]
rs2041490	0.97[ASN][1000 genomes]
rs2240982	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2254591	0.97[ASN][1000 genomes]
rs2536153	0.97[ASN][1000 genomes]
rs2536155	0.97[ASN][1000 genomes]
rs2536156	0.97[ASN][1000 genomes]
rs2536157	0.97[ASN][1000 genomes]
rs2536158	0.81[ASN][1000 genomes]
rs2536159	0.97[ASN][1000 genomes]
rs2536160	0.97[ASN][1000 genomes]
rs2536163	0.97[ASN][1000 genomes]
rs2536164	0.97[ASN][1000 genomes]
rs2536165	0.97[ASN][1000 genomes]
rs2536166	0.97[ASN][1000 genomes]
rs2536167	0.97[ASN][1000 genomes]
rs2536168	0.97[ASN][1000 genomes]
rs2536170	0.97[ASN][1000 genomes]
rs2536173	0.97[ASN][1000 genomes]
rs2536174	0.97[ASN][1000 genomes]
rs2536175	0.97[ASN][1000 genomes]
rs2536176	0.97[ASN][1000 genomes]
rs2536178	0.97[ASN][1000 genomes]
rs2536179	0.97[ASN][1000 genomes]
rs2536184	0.97[ASN][1000 genomes]
rs2536188	1.00[ASN][1000 genomes]
rs2536190	1.00[ASN][1000 genomes]
rs2536191	0.97[ASN][1000 genomes]
rs2707461	0.97[ASN][1000 genomes]
rs2707462	0.90[ASN][1000 genomes]
rs2707463	0.97[ASN][1000 genomes]
rs2707465	0.97[ASN][1000 genomes]
rs2707467	1.00[ASN][1000 genomes]
rs2707470	1.00[ASN][1000 genomes]
rs2707472	1.00[ASN][1000 genomes]
rs2707473	1.00[ASN][1000 genomes]
rs2707474	1.00[ASN][1000 genomes]
rs2707475	0.97[ASN][1000 genomes]
rs2707476	0.97[ASN][1000 genomes]
rs2707477	0.97[ASN][1000 genomes]
rs2707478	0.97[ASN][1000 genomes]
rs2707479	0.97[ASN][1000 genomes]
rs2707480	0.97[ASN][1000 genomes]
rs2707481	0.97[ASN][1000 genomes]
rs2707482	0.97[ASN][1000 genomes]
rs2707491	0.97[ASN][1000 genomes]
rs2707492	0.97[ASN][1000 genomes]
rs2707496	0.97[ASN][1000 genomes]
rs2707503	0.94[ASN][1000 genomes]
rs2707504	0.97[ASN][1000 genomes]
rs2707505	0.97[ASN][1000 genomes]
rs2707507	0.97[ASN][1000 genomes]
rs2707516	1.00[ASN][1000 genomes]
rs2908006	0.97[ASN][1000 genomes]
rs2908010	0.97[ASN][1000 genomes]
rs2952564	0.97[ASN][1000 genomes]
rs56293108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57275855	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60736586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62476334	0.86[ASN][1000 genomes]
rs6943521	0.88[ASN][1000 genomes]
rs6954568	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6956903	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6972181	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6972247	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73438293	0.82[ASN][1000 genomes]
rs73440208	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73440215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73720406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780789	0.97[ASN][1000 genomes]
rs7782648	0.97[ASN][1000 genomes]
rs7785478	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7792993	0.97[ASN][1000 genomes]
rs997782	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1027619	chr7:120906437-120976630	Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	esv2757237	chr7:120908459-120993326	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2759558	chr7:120908459-120993326	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
10	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120970600-121016800	Weak transcription	Gastric	stomach
2	chr7:120970600-121025400	Weak transcription	Spleen	Spleen
3	chr7:120970800-120975200	Weak transcription	NHLF	lung
4	chr7:120970800-120979200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:120970800-120982600	Weak transcription	HSMM	muscle
6	chr7:120970800-121000400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:120971000-120986400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:120972000-120982000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr7:120972000-120986600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:120972000-120992400	Weak transcription	Esophagus	oesophagus
11	chr7:120973800-120998800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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