Variant report

Variant	rs1363530
Chromosome Location	chr5:147344371-147344372
allele	C/T
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]
rs1345689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1363526	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
rs1363530	ANXA6	cis	parietal	SCAN

Chromatin state (count:35 , 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	chr5:147343000-147344600	Enhancers	HUVEC	blood vessel
5	chr5:147343000-147345200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr5:147343000-147346400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:147343200-147344400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:147343200-147344400	Enhancers	Brain Cingulate Gyrus	brain
9	chr5:147343200-147345200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:147343200-147347800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr5:147343400-147344400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:147343400-147344400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:147343400-147344800	Enhancers	Brain Hippocampus Middle	brain
14	chr5:147343400-147345200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:147343400-147345200	Enhancers	Adipose Nuclei	Adipose
16	chr5:147343400-147345400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:147343600-147344400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:147343600-147344400	Enhancers	Fetal Intestine Large	intestine
19	chr5:147343600-147344400	Enhancers	Fetal Intestine Small	intestine
20	chr5:147343600-147345600	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:147343800-147344400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:147343800-147344400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr5:147343800-147344400	Enhancers	Brain Substantia Nigra	brain
24	chr5:147343800-147344800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:147343800-147344800	Weak transcription	Lung	lung
26	chr5:147343800-147344800	Weak transcription	Spleen	Spleen
27	chr5:147343800-147345000	Weak transcription	Left Ventricle	heart
28	chr5:147343800-147345800	Weak transcription	Hela-S3	cervix
29	chr5:147343800-147346400	Weak transcription	Esophagus	oesophagus
30	chr5:147343800-147352800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr5:147344000-147350800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:147344200-147344600	Enhancers	Psoas Muscle	Psoas
33	chr5:147344200-147345400	Weak transcription	Right Atrium	heart
34	chr5:147344200-147346600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr5:147344200-147347800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links