Variant report

Variant	rs1345689
Chromosome Location	chr5:147345190-147345191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10069070	1.00[YRI][hapmap]
rs10073775	1.00[YRI][hapmap]
rs11745768	1.00[YRI][hapmap]
rs12108690	1.00[YRI][hapmap]
rs1363526	1.00[ASN][1000 genomes]
rs1363530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363729	1.00[YRI][hapmap]
rs1422587	1.00[ASN][1000 genomes]
rs1422588	0.90[ASN][1000 genomes]
rs1423000	1.00[YRI][hapmap]
rs1423001	1.00[YRI][hapmap]
rs1423003	1.00[YRI][hapmap]
rs17703766	1.00[LWK][hapmap]
rs1862439	1.00[YRI][hapmap]
rs1862445	1.00[YRI][hapmap]
rs1862446	1.00[YRI][hapmap]
rs2080963	1.00[ASN][1000 genomes]
rs2098648	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3756688	1.00[YRI][hapmap]
rs3777140	1.00[YRI][hapmap]
rs3777143	1.00[YRI][hapmap]
rs3815737	1.00[YRI][hapmap]
rs3822744	1.00[YRI][hapmap]
rs4357026	1.00[YRI][hapmap]
rs4421091	1.00[ASN][1000 genomes]
rs4705223	1.00[YRI][hapmap]
rs6867691	1.00[ASN][1000 genomes]
rs952565	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1345689	ANXA6	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147326600-147345200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:147336400-147352800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr5:147336600-147352600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:147343000-147345200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:147343000-147346400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:147343200-147345200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:147343200-147347800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:147343400-147345200	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr5:147343400-147345200	Enhancers	Adipose Nuclei	Adipose
10	chr5:147343400-147345400	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:147343600-147345600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:147343800-147345800	Weak transcription	Hela-S3	cervix
13	chr5:147343800-147346400	Weak transcription	Esophagus	oesophagus
14	chr5:147343800-147352800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:147344000-147350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:147344200-147345400	Weak transcription	Right Atrium	heart
17	chr5:147344200-147346600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:147344200-147347800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr5:147344400-147351800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr5:147344400-147363000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:147344600-147347000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr5:147344800-147345200	Enhancers	Psoas Muscle	Psoas
23	chr5:147345000-147345200	Enhancers	Primary hematopoietic stem cells	blood
24	chr5:147345000-147345200	Enhancers	Gastric	stomach
25	chr5:147345000-147345200	Enhancers	Lung	lung
26	chr5:147345000-147345200	Enhancers	Spleen	Spleen
27	chr5:147345000-147345600	Enhancers	Left Ventricle	heart

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