Variant report

Variant	rs6819131
Chromosome Location	chr4:57124871-57124872
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12501430	0.95[JPT][hapmap]
rs12506253	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12506535	0.97[ASN][1000 genomes]
rs12506712	0.97[ASN][1000 genomes]
rs1471472	0.96[ASN][1000 genomes]
rs17086510	0.88[CHD][hapmap];0.92[GIH][hapmap];0.86[JPT][hapmap]
rs4865074	0.95[JPT][hapmap]
rs4865076	0.95[ASN][1000 genomes]
rs4865077	0.96[ASN][1000 genomes]
rs4865078	0.96[ASN][1000 genomes]
rs4865079	0.96[ASN][1000 genomes]
rs4865080	0.96[ASN][1000 genomes]
rs4865081	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4865082	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4865083	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55705732	0.97[ASN][1000 genomes]
rs57977312	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58281286	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58800795	0.87[ASN][1000 genomes]
rs58848993	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60359083	0.92[ASN][1000 genomes]
rs6819345	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6842825	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6846642	0.94[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs73162417	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73162419	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73162422	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162424	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7690043	0.92[ASN][1000 genomes]
rs7690071	0.92[ASN][1000 genomes]
rs9760047	1.00[ASN][1000 genomes]
rs9761168	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9761830	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[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:22 , 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	chr4:57113000-57131800	Weak transcription	Brain Germinal Matrix	brain
5	chr4:57118800-57127000	Weak transcription	Small Intestine	intestine
6	chr4:57120400-57125000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:57120800-57135800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:57122400-57128400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:57122800-57126200	Enhancers	Fetal Intestine Large	intestine
10	chr4:57123000-57128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr4:57123400-57126200	Enhancers	Fetal Intestine Small	intestine
12	chr4:57123600-57125200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr4:57124400-57126400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:57124600-57125000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:57124600-57125000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:57124600-57126000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:57124600-57126000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:57124600-57126800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:57124800-57125000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:57124800-57125200	Weak transcription	Stomach Mucosa	stomach
21	chr4:57124800-57132800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:57124800-57149200	Weak transcription	Fetal Brain Male	brain

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