Variant report

Variant	rs1993457
Chromosome Location	chr5:95951311-95951312
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95949438..95951808-chr5:96023239..96024214,15	MCF-7	breast:
2	chr5:95948215..95952715-chr5:95997286..95999874,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17086339	0.83[ASN][1000 genomes]
rs17086371	0.87[ASN][1000 genomes]
rs1993456	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6885297	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6899206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7736961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	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	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription 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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95949400-95951400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:95949600-95953200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:95950000-95951400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:95950400-95951400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:95950400-95951400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:95950400-95951400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:95950400-95951400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:95950400-95951400	Enhancers	Hela-S3	cervix
9	chr5:95950400-95951400	Enhancers	HUVEC	blood vessel
10	chr5:95950400-95951400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr5:95950400-95951400	Enhancers	NH-A	brain
12	chr5:95950400-95951400	Enhancers	NHDF-Ad	bronchial
13	chr5:95950400-95951400	Enhancers	Osteobl	bone
14	chr5:95950400-95951600	Enhancers	NHEK	skin
15	chr5:95950400-95953000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:95950400-95953200	Enhancers	HMEC	breast
17	chr5:95950400-95963000	Weak transcription	Stomach Mucosa	stomach
18	chr5:95950600-95951400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:95950600-95951400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:95950800-95951400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr5:95950800-95951400	Enhancers	Left Ventricle	heart
22	chr5:95950800-95952000	Weak transcription	Colonic Mucosa	Colon
23	chr5:95950800-95960400	Weak transcription	A549	lung
24	chr5:95951000-95951400	Enhancers	Lung	lung
25	chr5:95951000-95951400	Enhancers	Right Ventricle	heart
26	chr5:95951000-95951600	Enhancers	Esophagus	oesophagus
27	chr5:95951000-95951600	Enhancers	Right Atrium	heart
28	chr5:95951200-95952200	Weak transcription	HepG2	liver
29	chr5:95951200-95952400	Weak transcription	Small Intestine	intestine
30	chr5:95951200-95952800	Weak transcription	Rectal Mucosa Donor 31	rectum

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