Variant report

Variant	rs670855
Chromosome Location	chr11:120001695-120001696
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr11:120001565-120001948	HEK293-T-REx	kidney:	n/a	chr11:120001763-120001784

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119993537..119997499-chr11:119998076..120003019,6	K562	blood:
2	chr11:119995303..119997544-chr11:119999140..120002182,3	MCF-7	breast:

Variant related genes	Relation type
TRIM29	TF binding region
ENSG00000137699	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs2444240	0.92[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs470370	0.92[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.80[MEX][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs470373	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs470392	0.85[CHB][hapmap]
rs470645	0.92[CEU][hapmap];0.87[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs470725	0.98[ASN][1000 genomes]
rs470876	0.81[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap]
rs470941	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs471001	0.82[ASN][1000 genomes]
rs488672	0.86[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs4936509	0.92[CEU][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes]
rs531260	0.80[ASN][1000 genomes]
rs533636	0.86[CHB][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap]
rs550164	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs561498	0.81[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs566935	0.81[JPT][hapmap]
rs573211	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs590843	0.85[CHB][hapmap]
rs605374	0.86[CHB][hapmap];0.87[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs626225	0.81[AMR][1000 genomes];0.87[EUR][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	nsv1050132	chr11:119976310-120010437	Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs670855	SORL1	cis	cerebellum	SCAN
rs670855	DPAGT1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119993800-120001800	Weak transcription	Pancreas	Pancrea
2	chr11:119997600-120003200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
3	chr11:119999000-120006400	Enhancers	Placenta	Placenta
4	chr11:120000200-120001800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr11:120000200-120003400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
6	chr11:120000400-120002200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:120000400-120008400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:120000600-120002600	Weak transcription	Fetal Intestine Large	intestine
9	chr11:120000600-120002800	Weak transcription	Colonic Mucosa	Colon
10	chr11:120000600-120002800	Genic enhancers	NHEK	skin
11	chr11:120000600-120006400	Weak transcription	Fetal Thymus	thymus
12	chr11:120000800-120002600	Weak transcription	Fetal Intestine Small	intestine
13	chr11:120000800-120003200	Genic enhancers	HMEC	breast
14	chr11:120001200-120002600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:120001400-120002000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:120001400-120005200	Weak transcription	Hela-S3	cervix
17	chr11:120001400-120007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:120001600-120002600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:120001600-120002600	Enhancers	Placenta Amnion	Placenta Amnion

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