Variant report

Variant	rs6449524
Chromosome Location	chr5:60582793-60582794
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	chr5:60580863..60583742-chr5:60584311..60586835,2	MCF-7	breast:
2	chr5:60581805..60584600-chr5:60585174..60586685,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10042872	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10044874	0.80[ASN][1000 genomes]
rs10079986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869228	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882613	0.80[ASN][1000 genomes]
rs6885308	0.80[ASN][1000 genomes]
rs73103614	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9291714	0.80[ASN][1000 genomes]
rs9291715	0.80[ASN][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	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60571800-60583800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:60573400-60586600	Weak transcription	Esophagus	oesophagus
3	chr5:60573400-60594800	Weak transcription	Right Atrium	heart
4	chr5:60574000-60585400	Weak transcription	Spleen	Spleen
5	chr5:60576600-60588800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr5:60577200-60585400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:60577400-60584800	Weak transcription	A549	lung
8	chr5:60577800-60585200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:60581200-60586000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:60581800-60583400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:60581800-60584600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:60581800-60585800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:60582000-60583800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr5:60582000-60585600	Enhancers	NHDF-Ad	bronchial
15	chr5:60582200-60583000	Weak transcription	Stomach Mucosa	stomach
16	chr5:60582400-60582800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:60582400-60582800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr5:60582400-60582800	Enhancers	Pancreas	Pancrea
19	chr5:60582400-60582800	Enhancers	HSMM	muscle
20	chr5:60582400-60583000	Enhancers	Colonic Mucosa	Colon
21	chr5:60582400-60583000	Enhancers	Osteobl	bone
22	chr5:60582400-60583400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr5:60582400-60583400	Enhancers	NHLF	lung
24	chr5:60582400-60583600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:60582400-60583600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr5:60582400-60583800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:60582600-60582800	Enhancers	NH-A	brain
28	chr5:60582600-60583000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:60582600-60583400	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr5:60582600-60583400	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:60582600-60583600	Enhancers	Fetal Intestine Small	intestine
32	chr5:60582600-60585200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:60582600-60585400	Weak transcription	Lung	lung

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