Variant report

Variant	rs4363416
Chromosome Location	chr1:228220651-228220652
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	chr1:228218670..228221362-chr1:228227720..228229463,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1034792	0.83[EUR][1000 genomes]
rs10916262	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11577983	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11578623	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11579725	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11580654	0.81[EUR][1000 genomes]
rs11582265	0.84[ASN][1000 genomes]
rs11582704	0.84[ASN][1000 genomes]
rs11589007	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11589040	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11589467	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11589513	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11590118	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12033088	0.83[EUR][1000 genomes]
rs12048010	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1342351	0.86[EUR][1000 genomes]
rs1745422	0.83[EUR][1000 genomes]
rs17621519	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1909647	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2107905	0.88[EUR][1000 genomes]
rs35826486	0.83[EUR][1000 genomes]
rs3768329	0.84[ASN][1000 genomes]
rs3768330	0.84[ASN][1000 genomes]
rs41270175	0.83[EUR][1000 genomes]
rs41270177	0.83[EUR][1000 genomes]
rs4546914	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653894	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4653895	0.91[EUR][1000 genomes]
rs4653897	0.83[EUR][1000 genomes]
rs56888086	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57146523	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57556486	0.86[EUR][1000 genomes]
rs57657087	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60213528	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825125	0.83[EUR][1000 genomes]
rs61825130	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61825131	0.83[EUR][1000 genomes]
rs6672422	0.98[EUR][1000 genomes]
rs6672559	0.91[EUR][1000 genomes]
rs6672601	0.98[EUR][1000 genomes]
rs72756204	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72756209	0.81[EUR][1000 genomes]
rs73110722	0.86[EUR][1000 genomes]
rs7530812	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7539664	0.83[EUR][1000 genomes]
rs882451	0.85[EUR][1000 genomes];0.84[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	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	nsv945349	chr1:228186556-228245135	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv3389641	chr1:228217129-228221427	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228219800-228225400	Weak transcription	Right Atrium	heart
2	chr1:228220000-228225200	Weak transcription	Esophagus	oesophagus

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