Variant report

Variant	rs10463395
Chromosome Location	chr5:147391585-147391586
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	chr5:147377762..147382319-chr5:147386529..147391595,4	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10058108	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10062911	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10064815	0.81[EUR][1000 genomes]
rs10067434	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10463396	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1363727	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1363728	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1422982	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1422992	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1422997	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1422998	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17626088	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052529	0.81[EUR][1000 genomes]
rs2216655	0.81[EUR][1000 genomes]
rs2287772	0.84[CEU][hapmap]
rs28576989	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2895729	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4415068	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4472254	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs4529181	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs6580519	0.81[CEU][hapmap]
rs6580520	0.81[CEU][hapmap]
rs6864564	0.83[CEU][hapmap];0.86[CHB][hapmap]
rs6864920	0.81[CEU][hapmap];0.80[CHB][hapmap]
rs6895394	0.81[EUR][1000 genomes]
rs7716414	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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	nsv1028477	chr5:147255013-147416217	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1033838	chr5:147360521-147484014	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10463395	SPINK5	cis	Heart Left Ventricle	GTEx
rs10463395	SPINK5	cis	Muscle Skeletal	GTEx
rs10463395	SPINK5	cis	Adipose Subcutaneous	GTEx
rs10463395	SPINK5	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147386400-147394000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr5:147386400-147400000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:147388400-147393400	Weak transcription	Esophagus	oesophagus
4	chr5:147388600-147401800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:147389200-147394400	Enhancers	Hela-S3	cervix
6	chr5:147390600-147394600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:147390800-147392200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:147391000-147391600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:147391000-147391600	Enhancers	H9 Cell Line	embryonic stem cell
10	chr5:147391000-147391600	Enhancers	HUVEC	blood vessel
11	chr5:147391000-147391600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr5:147391000-147391800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:147391000-147391800	Enhancers	NH-A	brain
14	chr5:147391000-147392000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:147391000-147392000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:147391000-147392200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:147391000-147392800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:147391000-147394400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:147391000-147394400	Enhancers	HMEC	breast
20	chr5:147391000-147394400	Enhancers	NHEK	skin
21	chr5:147391200-147391600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:147391200-147391800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr5:147391400-147391800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr5:147391400-147392000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr5:147391400-147392000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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