Variant report

Variant	rs74150568
Chromosome Location	chr1:226138464-226138465
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	chr1:226131582..226134772-chr1:226137252..226139972,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10915902	0.82[AMR][1000 genomes]
rs10915903	0.82[AMR][1000 genomes]
rs12058345	0.85[AFR][1000 genomes]
rs12067435	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16845429	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6660662	0.84[AMR][1000 genomes]
rs6700642	0.89[AFR][1000 genomes];0.82[AMR][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	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv3385958	chr1:226117875-226149657	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3342933	chr1:226138313-226140601	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226129600-226185600	Weak transcription	Right Atrium	heart
2	chr1:226133200-226138600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr1:226134000-226138600	Weak transcription	Gastric	stomach
4	chr1:226137800-226138600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr1:226137800-226139000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:226137800-226139800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:226138000-226138800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr1:226138000-226138800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:226138000-226139000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:226138000-226139000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:226138200-226138600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:226138200-226138600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr1:226138200-226139000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:226138400-226138600	Enhancers	H9 Cell Line	embryonic stem cell
15	chr1:226138400-226138600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:226138400-226138600	Enhancers	K562	blood
17	chr1:226138400-226138800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr1:226138400-226138800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:226138400-226138800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr1:226138400-226139000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:226138400-226139800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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