Variant report

Variant	rs11217809
Chromosome Location	chr11:120178347-120178348
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:120173019..120175401-chr11:120178309..120180098,2	MCF-7	breast:
2	chr11:120101055..120116563-chr11:120160593..120179156,52	K562	blood:
3	chr11:120170944..120173449-chr11:120176604..120178687,2	K562	blood:
4	chr11:120173473..120178843-chr11:120183667..120189130,9	MCF-7	breast:
5	chr11:120104420..120112680-chr11:120168705..120181524,41	K562	blood:
6	chr11:120177470..120179089-chr11:120179127..120181642,2	K562	blood:
7	chr11:120177200..120179089-chr11:120179127..120181932,2	K562	blood:
8	chr11:120177467..120179242-chr11:120206323..120208657,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137709	Chromatin interaction
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11217810	0.90[ASN][1000 genomes]
rs3824883	1.00[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4616049	0.81[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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv522706	chr11:120173845-120178632	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11217809	LGALS8	trans	lymphoblastoid	RTeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120173200-120181200	Weak transcription	Fetal Intestine Large	intestine
2	chr11:120173800-120181200	Weak transcription	Fetal Intestine Small	intestine
3	chr11:120175000-120178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:120175400-120179200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:120176000-120183600	Weak transcription	Small Intestine	intestine
6	chr11:120176200-120178400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:120176200-120178400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:120176400-120187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:120176600-120181800	Weak transcription	Colonic Mucosa	Colon
10	chr11:120176800-120178600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:120176800-120179000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:120177200-120187600	Weak transcription	Gastric	stomach
13	chr11:120177600-120178400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:120177600-120178400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr11:120177600-120180800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:120177800-120178600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:120177800-120179400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:120177800-120179800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:120177800-120182200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:120177800-120187200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:120177800-120187400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:120178000-120179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:120178000-120180000	Weak transcription	Esophagus	oesophagus
24	chr11:120178000-120184800	Weak transcription	NHEK	skin
25	chr11:120178000-120187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:120178000-120187400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:120178200-120184800	Weak transcription	Placenta	Placenta
28	chr11:120178200-120187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:120178200-120187800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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