Variant report

Variant	rs1006194
Chromosome Location	chr20:24116698-24116699
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24112072..24114906-chr20:24115605..24118020,3	MCF-7	breast:
2	chr20:24115388..24117970-chr20:24118371..24122645,4	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11696686	0.82[EUR][1000 genomes]
rs127801	0.90[CHB][hapmap]
rs2005624	0.81[EUR][1000 genomes]
rs2013710	0.81[EUR][1000 genomes]
rs2208012	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs224151	0.90[CHB][hapmap]
rs6036640	0.83[EUR][1000 genomes]
rs6036644	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6036645	0.84[EUR][1000 genomes]
rs6036650	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6036653	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036654	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036664	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6049389	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6049390	0.84[EUR][1000 genomes]
rs6049392	0.83[EUR][1000 genomes]
rs6049394	0.84[EUR][1000 genomes]
rs6049403	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6049416	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6049417	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6049419	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6049432	0.90[CHB][hapmap]
rs6138214	0.84[EUR][1000 genomes]
rs721314	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs761865	0.84[EUR][1000 genomes]
rs761868	0.90[CHB][hapmap]
rs761869	0.90[CHB][hapmap]
rs858144	0.82[EUR][1000 genomes]
rs858145	0.83[EUR][1000 genomes]
rs910775	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs974784	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs974785	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2755330	chr20:24114903-24130700	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1006194	INSM1	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24111000-24117200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr20:24111400-24117200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24111400-24120400	Enhancers	Placenta	Placenta
4	chr20:24111600-24119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:24113000-24117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:24114800-24119800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:24115600-24116800	Weak transcription	Esophagus	oesophagus
8	chr20:24115600-24117400	Weak transcription	HMEC	breast
9	chr20:24115600-24119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:24115800-24119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:24115800-24121200	Weak transcription	Pancreas	Pancrea
12	chr20:24116000-24117800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr20:24116400-24116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:24116400-24116800	Enhancers	Dnd41	blood
15	chr20:24116400-24117800	Enhancers	NHEK	skin
16	chr20:24116600-24117000	Active TSS	Spleen	Spleen

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