Variant report

Variant	rs12523305
Chromosome Location	chr5:41415428-41415429
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	chr5:41415119..41417531-chr5:41419550..41421583,3	K562	blood:
2	chr5:41284176..41286703-chr5:41413891..41416832,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12513713	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513719	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12516454	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12518202	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12518226	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518664	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16871303	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205636	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876938	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs672659	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7713704	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7732708	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7734535	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735118	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	esv1851387	chr5:41336050-41423631	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1024631	chr5:41341979-41427953	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41409800-41418400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr5:41410000-41417800	Weak transcription	NHLF	lung
3	chr5:41411200-41416400	Weak transcription	Left Ventricle	heart
4	chr5:41412600-41415600	Enhancers	NHDF-Ad	bronchial
5	chr5:41412800-41416600	Weak transcription	Right Atrium	heart
6	chr5:41412800-41416800	Enhancers	Hela-S3	cervix
7	chr5:41412800-41418400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:41413000-41419000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:41413200-41419400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr5:41413600-41425400	Weak transcription	Ovary	ovary
11	chr5:41413800-41418200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:41414400-41415600	Enhancers	NH-A	brain
13	chr5:41414400-41415600	Enhancers	Osteobl	bone
14	chr5:41414400-41416600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:41414400-41416800	Enhancers	HMEC	breast
16	chr5:41414400-41419800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:41414400-41420600	Enhancers	Fetal Heart	heart
18	chr5:41414600-41417800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:41414800-41418200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr5:41414800-41418400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:41415200-41415800	Flanking Active TSS	A549	lung
22	chr5:41415200-41418200	Weak transcription	HSMM	muscle
23	chr5:41415400-41415800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:41415400-41417000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr5:41415400-41418000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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