Variant report

Variant	rs60575087
Chromosome Location	chr5:95182023-95182024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:95181941-95183437	A549	lung:	n/a	chr5:95182878-95182891 chr5:95182876-95182894 chr5:95182871-95182892 chr5:95182877-95182893 chr5:95182883-95182890

No.	Distal block	Cell Line	Cell type
1	chr5:95064544..95067364-chr5:95180646..95182818,3	MCF-7	breast:
2	chr5:95137350..95139988-chr5:95179916..95183018,3	MCF-7	breast:
3	chr5:95122048..95125672-chr5:95179642..95182375,3	MCF-7	breast:
4	chr5:94980385..94983394-chr5:95181287..95182873,3	MCF-7	breast:
5	chr5:95001354..95003054-chr5:95181008..95183990,2	K562	blood:
6	chr5:94889593..94892227-chr5:95181323..95182902,2	K562	blood:
7	chr5:95116312..95117533-chr5:95181736..95183486,9	MCF-7	breast:
8	chr5:95175808..95177943-chr5:95180216..95182740,2	MCF-7	breast:
9	chr5:94892616..94895050-chr5:95181504..95183040,2	MCF-7	breast:
10	chr5:94984590..94987808-chr5:95181177..95184579,4	K562	blood:
11	chr5:95169176..95171322-chr5:95181363..95183206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272021	TF binding region
ENSG00000198677	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000251000	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11135439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17085164	1.00[ASN][1000 genomes]
rs17463444	1.00[ASN][1000 genomes]
rs17463911	1.00[ASN][1000 genomes]
rs17464446	1.00[ASN][1000 genomes]
rs257683	1.00[ASN][1000 genomes]
rs28926194	1.00[ASN][1000 genomes]
rs35129919	1.00[ASN][1000 genomes]
rs6556889	1.00[ASN][1000 genomes]
rs6888777	1.00[ASN][1000 genomes]
rs6891719	1.00[ASN][1000 genomes]

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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1019566	chr5:95180352-95300677	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95171800-95185800	Weak transcription	Pancreas	Pancrea
2	chr5:95175800-95182200	Weak transcription	Esophagus	oesophagus
3	chr5:95177800-95192200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:95178200-95182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:95178400-95188400	Weak transcription	Stomach Mucosa	stomach
6	chr5:95179000-95186200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:95179000-95206000	Weak transcription	Spleen	Spleen
8	chr5:95179200-95182200	Weak transcription	Thymus	Thymus
9	chr5:95179200-95182200	Weak transcription	HUVEC	blood vessel
10	chr5:95179200-95184200	Weak transcription	HSMM	muscle
11	chr5:95179200-95185800	Weak transcription	Lung	lung
12	chr5:95179400-95182200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:95179400-95182200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:95179400-95182200	Weak transcription	NHLF	lung
15	chr5:95179400-95182400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:95179400-95182400	Weak transcription	Brain Anterior Caudate	brain
17	chr5:95179400-95182400	Weak transcription	Brain Substantia Nigra	brain
18	chr5:95179400-95183000	Weak transcription	Fetal Heart	heart
19	chr5:95179400-95183600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:95179400-95184600	Weak transcription	NH-A	brain
21	chr5:95179400-95184600	Weak transcription	NHDF-Ad	bronchial
22	chr5:95179600-95183000	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:95179600-95184400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95179800-95185200	Weak transcription	Left Ventricle	heart
25	chr5:95180000-95182200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:95180000-95182400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:95180000-95182400	Weak transcription	A549	lung
28	chr5:95180000-95182600	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:95180000-95186000	Weak transcription	Right Atrium	heart
30	chr5:95180200-95184600	Weak transcription	Adipose Nuclei	Adipose
31	chr5:95180400-95182400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:95180800-95182200	Weak transcription	Psoas Muscle	Psoas
33	chr5:95180800-95182400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:95181200-95182400	Weak transcription	Placenta	Placenta
35	chr5:95181200-95182800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:95181400-95182600	Weak transcription	K562	blood
37	chr5:95181600-95182800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:95182000-95182600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:95182000-95182800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:95182000-95182800	Flanking Active TSS	Liver	Liver
41	chr5:95182000-95182800	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr5:95182000-95182800	Enhancers	HepG2	liver
43	chr5:95182000-95182800	Enhancers	Osteobl	bone
44	chr5:95182000-95185200	Enhancers	Muscle Satellite Cultured Cells	--

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