Variant report

Variant	rs6795569
Chromosome Location	chr3:143725643-143725644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143718991..143721092-chr3:143724372..143726394,2	K562	blood:
2	chr3:143708397..143711277-chr3:143725553..143727081,2	K562	blood:
3	chr10:8095571..8098373-chr3:143724326..143726325,2	MCF-7	breast:
4	chr3:143691612..143693749-chr3:143725620..143727478,2	K562	blood:
5	chr17:14698650..14701418-chr3:143725527..143727456,2	MCF-7	breast:
6	chr3:143690019..143693356-chr3:143725620..143728125,4	K562	blood:

Variant related genes	Relation type
ENSG00000107485	Chromatin interaction
ENSG00000181744	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10513238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1445413	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16854851	1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361210	1.00[JPT][hapmap]
rs2885196	1.00[JPT][hapmap]
rs35988300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56936044	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58523942	1.00[ASN][1000 genomes]
rs59184234	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60708157	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6803662	1.00[JPT][hapmap]
rs73004506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73004578	1.00[ASN][1000 genomes]
rs749211	1.00[ASN][1000 genomes]
rs7615862	1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621156	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628380	1.00[JPT][hapmap]
rs7632248	1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642205	1.00[ASN][1000 genomes]
rs7650329	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr3:143697000-143729200	Weak transcription	Aorta	Aorta
2	chr3:143697200-143727800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr3:143699200-143737600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:143702600-143727400	Weak transcription	Pancreas	Pancrea
5	chr3:143704600-143725800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:143706400-143728000	Weak transcription	Fetal Stomach	stomach
7	chr3:143708000-143729200	Weak transcription	Ovary	ovary
8	chr3:143708800-143729200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:143709200-143728000	Weak transcription	NHLF	lung
10	chr3:143709200-143729000	Weak transcription	Fetal Lung	lung
11	chr3:143712000-143728600	Weak transcription	Left Ventricle	heart
12	chr3:143712200-143726600	Weak transcription	Primary T cells from cord blood	blood
13	chr3:143712800-143727400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:143713400-143726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:143714800-143726800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:143715000-143726400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:143717200-143726000	Weak transcription	Brain Substantia Nigra	brain
18	chr3:143717600-143729400	Weak transcription	NH-A	brain
19	chr3:143717800-143728000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:143721200-143727400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr3:143722600-143729400	Weak transcription	HSMM	muscle
22	chr3:143725600-143726000	Weak transcription	Brain Hippocampus Middle	brain

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