Variant report

Variant	rs7581330
Chromosome Location	chr2:173703573-173703574
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	chr2:173698872..173701196-chr2:173703059..173705642,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11677165	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11900684	0.91[CEU][hapmap]
rs16860895	1.00[ASW][hapmap];0.93[CEU][hapmap];0.83[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16860905	1.00[ASW][hapmap];0.86[CEU][hapmap];0.83[GIH][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16860911	0.93[CEU][hapmap];0.94[YRI][hapmap]
rs16860920	0.93[CEU][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs16860958	1.00[ASW][hapmap];0.93[CEU][hapmap];0.83[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16860965	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16860971	0.92[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16860975	1.00[ASW][hapmap];0.93[CEU][hapmap];0.83[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs16860984	0.93[CEU][hapmap];0.83[GIH][hapmap];0.86[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs2194717	0.93[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes]
rs2258081	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs34469004	0.86[CEU][hapmap]
rs3769286	0.86[CEU][hapmap]
rs3769303	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs56212232	0.80[EUR][1000 genomes]
rs56371869	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72900217	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72900231	0.95[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs72902285	0.87[AFR][1000 genomes]
rs72906192	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs72908134	0.83[AFR][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	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7581330	FASTKD1	cis	parietal	SCAN
rs7581330	HOXD9	cis	parietal	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173679200-173708800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:173689200-173723200	Weak transcription	Esophagus	oesophagus
3	chr2:173700000-173710000	Weak transcription	Psoas Muscle	Psoas
4	chr2:173701400-173703600	Weak transcription	Placenta	Placenta
5	chr2:173701400-173703800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:173701400-173708800	Weak transcription	Left Ventricle	heart
7	chr2:173701600-173706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:173701600-173709800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:173702200-173707200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:173702200-173707400	Weak transcription	Fetal Heart	heart
11	chr2:173702600-173704000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:173702600-173707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:173702600-173707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:173702600-173707600	Weak transcription	HMEC	breast
15	chr2:173702800-173707400	Weak transcription	NHEK	skin

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