Variant report

Variant	rs12506535
Chromosome Location	chr4:57119536-57119537
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	chr4:57114307..57117265-chr4:57118392..57119918,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12501430	0.83[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12506253	0.97[ASN][1000 genomes]
rs12506712	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1471472	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17086510	0.82[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17086524	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4865074	0.82[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4865076	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4865077	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865078	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865079	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865080	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4865081	0.86[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[ASN][1000 genomes]
rs4865082	0.97[ASN][1000 genomes]
rs4865083	0.86[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs55705732	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57977312	0.97[ASN][1000 genomes]
rs58281286	0.97[ASN][1000 genomes]
rs58800795	0.88[ASN][1000 genomes]
rs58848993	0.97[ASN][1000 genomes]
rs60359083	0.94[ASN][1000 genomes]
rs6819131	0.97[ASN][1000 genomes]
rs6819345	0.97[ASN][1000 genomes]
rs6846642	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73162417	0.97[ASN][1000 genomes]
rs73162419	0.96[ASN][1000 genomes]
rs73162422	0.97[ASN][1000 genomes]
rs73162424	0.97[ASN][1000 genomes]
rs7686913	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7690043	0.94[ASN][1000 genomes]
rs7690071	0.94[ASN][1000 genomes]
rs9760047	0.97[ASN][1000 genomes]
rs9761168	0.96[ASN][1000 genomes]
rs9761830	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755990	chr4:56317136-57143037	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv999639	chr4:56942917-57401310	Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1014045	chr4:56942917-57404511	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	esv3415289	chr4:57063312-57236755	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers 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 target site	10 gene(s)	inside rSNPs	diseases
5	nsv829940	chr4:57072341-57262730	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers 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 miRNA target site	88 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	chr4:57090400-57129000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr4:57098800-57158400	Weak transcription	Fetal Brain Female	brain
3	chr4:57107400-57148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:57107800-57124400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:57113000-57122000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:57113000-57131800	Weak transcription	Brain Germinal Matrix	brain
7	chr4:57116400-57121800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr4:57117200-57122600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:57117400-57120400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:57117600-57123600	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:57118200-57120400	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:57118200-57121000	Enhancers	Fetal Intestine Small	intestine
13	chr4:57118200-57121200	Enhancers	Fetal Intestine Large	intestine
14	chr4:57118400-57120200	Enhancers	HepG2	liver
15	chr4:57118600-57120800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:57118600-57124600	Weak transcription	Stomach Mucosa	stomach
17	chr4:57118800-57127000	Weak transcription	Small Intestine	intestine
18	chr4:57119000-57120400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:57119000-57121600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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