Variant report

Variant	rs768528
Chromosome Location	chr5:127279986-127279987
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:127277558..127280504-chr5:127284897..127288204,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10040931	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10041355	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10041388	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10052149	0.80[EUR][1000 genomes]
rs10055964	0.81[EUR][1000 genomes]
rs10057048	0.80[EUR][1000 genomes]
rs1013374	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1013375	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10478786	0.93[EUR][1000 genomes]
rs10478787	0.93[EUR][1000 genomes]
rs10478788	0.80[EUR][1000 genomes]
rs11745009	0.92[EUR][1000 genomes]
rs11745023	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12523625	0.93[EUR][1000 genomes]
rs13161109	0.85[EUR][1000 genomes]
rs13174053	0.94[EUR][1000 genomes]
rs13177354	0.81[EUR][1000 genomes]
rs13180050	0.93[EUR][1000 genomes]
rs1558149	0.93[EUR][1000 genomes]
rs17606751	0.81[EUR][1000 genomes]
rs2041143	0.89[EUR][1000 genomes]
rs2108652	0.80[EUR][1000 genomes]
rs2108654	0.94[EUR][1000 genomes]
rs2159110	0.87[EUR][1000 genomes]
rs2409038	0.93[EUR][1000 genomes]
rs2409039	0.91[EUR][1000 genomes]
rs2409040	0.88[EUR][1000 genomes]
rs2898077	0.92[EUR][1000 genomes]
rs4835934	0.93[EUR][1000 genomes]
rs59634534	0.94[EUR][1000 genomes]
rs6881456	0.93[EUR][1000 genomes]
rs6889393	0.80[EUR][1000 genomes]
rs6892704	0.92[EUR][1000 genomes]
rs732235	0.92[EUR][1000 genomes]
rs732236	0.93[EUR][1000 genomes]
rs7713606	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7717705	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127267400-127292200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:127269800-127292400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:127271200-127294800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:127274400-127287000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:127274800-127295000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:127274800-127296000	Weak transcription	Primary B cells from cord blood	blood
7	chr5:127276600-127281800	Enhancers	A549	lung
8	chr5:127277200-127280000	Enhancers	HUVEC	blood vessel
9	chr5:127278400-127281800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:127278400-127283000	Weak transcription	HMEC	breast
11	chr5:127278400-127286400	Weak transcription	Fetal Intestine Large	intestine
12	chr5:127278400-127286400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:127278400-127292800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:127278400-127292800	Weak transcription	Brain Substantia Nigra	brain
15	chr5:127278400-127292800	Weak transcription	HSMM	muscle
16	chr5:127278400-127294600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:127278400-127295600	Weak transcription	HSMMtube	muscle
18	chr5:127279200-127281200	Weak transcription	Fetal Intestine Small	intestine
19	chr5:127279200-127281400	Weak transcription	Small Intestine	intestine
20	chr5:127279400-127280200	Enhancers	Gastric	stomach
21	chr5:127279800-127280200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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