Variant report

Variant	rs6893547
Chromosome Location	chr5:95665880-95665881
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95295913..95298575-chr5:95662925..95666716,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118985	Chromatin interaction
ENSG00000251314	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10043904	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10070093	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10476668	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12518754	0.96[ASN][1000 genomes]
rs12521786	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs155968	0.81[JPT][hapmap]
rs155969	0.81[JPT][hapmap]
rs155996	0.81[JPT][hapmap]
rs156016	0.81[JPT][hapmap]
rs1645574	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs169240	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17384294	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs271913	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs271920	0.90[JPT][hapmap]
rs271922	0.90[JPT][hapmap]
rs271924	0.90[JPT][hapmap]
rs271925	0.91[JPT][hapmap]
rs271926	0.90[JPT][hapmap]
rs28788264	0.91[AFR][1000 genomes]
rs4077816	0.88[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs4264961	0.95[ASN][1000 genomes]
rs4283814	0.96[ASN][1000 genomes]
rs4379224	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs4502854	0.96[ASN][1000 genomes]
rs4635954	0.91[AFR][1000 genomes]
rs4869279	0.96[ASN][1000 genomes]
rs6233	0.90[JPT][hapmap]
rs62364560	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62364561	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6876484	0.96[ASN][1000 genomes]
rs6881060	0.96[ASN][1000 genomes]
rs6881916	0.96[ASN][1000 genomes]
rs6885381	0.96[ASN][1000 genomes]
rs6895341	0.96[ASN][1000 genomes]
rs72787618	0.81[AFR][1000 genomes]
rs7448311	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7708068	0.83[AFR][1000 genomes]
rs7733672	0.81[CEU][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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95658400-95668600	Weak transcription	Aorta	Aorta
2	chr5:95659000-95666600	Weak transcription	HepG2	liver
3	chr5:95659000-95667600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:95660800-95666000	Weak transcription	A549	lung
5	chr5:95661000-95666000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr5:95661000-95666000	Weak transcription	NHLF	lung
7	chr5:95661000-95668400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:95661000-95671600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:95663600-95667600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:95663600-95668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:95663800-95667800	Enhancers	Osteobl	bone
12	chr5:95663800-95668000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:95663800-95671400	Weak transcription	GM12878-XiMat	blood
14	chr5:95664000-95668000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:95664200-95668200	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:95664400-95666400	Weak transcription	Brain Substantia Nigra	brain
17	chr5:95664800-95666800	Enhancers	HSMM	muscle
18	chr5:95665000-95667200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:95665000-95667400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:95665000-95667400	Enhancers	NHDF-Ad	bronchial
21	chr5:95665000-95667800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:95665000-95668000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:95665200-95667000	Enhancers	Fetal Brain Male	brain
24	chr5:95665200-95667400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:95665200-95667600	Enhancers	HMEC	breast
26	chr5:95665400-95666200	Enhancers	NHEK	skin
27	chr5:95665400-95668400	Weak transcription	HSMMtube	muscle
28	chr5:95665400-95668600	Weak transcription	Left Ventricle	heart
29	chr5:95665400-95671800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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