Variant report

Variant	rs2282778
Chromosome Location	chr4:55533621-55533622
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:55524169..55525857-chr4:55532977..55534887,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1005438	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11733357	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13119906	1.00[JPT][hapmap]
rs13128858	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs13135792	0.85[CHB][hapmap]
rs13147869	1.00[JPT][hapmap];0.96[MEX][hapmap]
rs17827974	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2237031	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2237035	0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2282779	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282781	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34284864	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35441406	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3756197	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3819387	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3819389	0.88[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819392	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3822213	0.90[CEU][hapmap];0.82[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864915	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554196	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6825657	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71599647	0.81[EUR][1000 genomes]
rs759083	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7655556	0.81[EUR][1000 genomes]
rs7655588	0.81[EUR][1000 genomes]
rs7656858	0.81[EUR][1000 genomes]
rs7675203	0.80[EUR][1000 genomes]
rs7684000	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7697799	0.80[EUR][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	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55525800-55537200	Weak transcription	Right Atrium	heart
2	chr4:55528600-55534000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr4:55528600-55535400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:55529800-55534400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:55530200-55534000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr4:55530400-55533800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:55530400-55533800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:55530600-55533800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:55530600-55534000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:55532200-55533800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr4:55533000-55534200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:55533000-55534400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr4:55533000-55535200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:55533200-55534400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:55533400-55533800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:55533400-55535600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:55533600-55534000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:55533600-55534400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:55533600-55535400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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