Variant report

Variant	rs11589720
Chromosome Location	chr1:151921469-151921470
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151920501..151922320-chr1:151962400..151965015,2	MCF-7	breast:
2	chr1:151919533..151922319-chr1:151932817..151935606,2	MCF-7	breast:
3	chr1:151918412..151920135-chr1:151920921..151922803,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1038747	0.93[ASN][1000 genomes]
rs10788817	0.86[ASN][1000 genomes]
rs10788818	0.86[ASN][1000 genomes]
rs10788820	0.81[ASN][1000 genomes]
rs11204914	0.86[ASN][1000 genomes]
rs11204915	0.86[ASN][1000 genomes]
rs11204922	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12116923	0.98[ASN][1000 genomes]
rs12562586	0.81[ASN][1000 genomes]
rs1387833	0.89[ASN][1000 genomes]
rs1490189	0.89[ASN][1000 genomes]
rs1907040	0.86[ASN][1000 genomes]
rs2130525	0.81[ASN][1000 genomes]
rs2279501	0.98[ASN][1000 genomes]
rs2279502	0.98[ASN][1000 genomes]
rs2337689	0.89[ASN][1000 genomes]
rs2338019	0.85[ASN][1000 genomes]
rs2338209	0.81[ASN][1000 genomes]
rs2932565	0.81[ASN][1000 genomes]
rs2932576	0.89[ASN][1000 genomes]
rs2932577	0.89[ASN][1000 genomes]
rs2932579	0.89[ASN][1000 genomes]
rs2932581	0.95[ASN][1000 genomes]
rs2932583	0.98[ASN][1000 genomes]
rs2932586	0.98[ASN][1000 genomes]
rs2932590	0.87[ASN][1000 genomes]
rs2999506	0.89[ASN][1000 genomes]
rs2999508	0.95[ASN][1000 genomes]
rs2999512	0.95[ASN][1000 genomes]
rs2999526	0.87[ASN][1000 genomes]
rs2999528	0.87[ASN][1000 genomes]
rs2999531	0.85[ASN][1000 genomes]
rs2999541	0.81[ASN][1000 genomes]
rs2999542	0.81[ASN][1000 genomes]
rs2999544	0.81[ASN][1000 genomes]
rs2999545	0.88[ASN][1000 genomes]
rs2999546	0.89[ASN][1000 genomes]
rs3007670	0.81[ASN][1000 genomes]
rs3007685	0.81[ASN][1000 genomes]
rs3007691	0.98[ASN][1000 genomes]
rs3007708	0.85[ASN][1000 genomes]
rs3007711	0.81[ASN][1000 genomes]
rs4845409	0.81[ASN][1000 genomes]
rs4845713	0.81[ASN][1000 genomes]
rs9435963	0.81[ASN][1000 genomes]
rs9435964	0.80[ASN][1000 genomes]
rs9943281	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11589720	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs11589720	THEM4	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151914000-151922000	Weak transcription	Spleen	Spleen
2	chr1:151917600-151921800	Weak transcription	Lung	lung
3	chr1:151917600-151921800	Weak transcription	Pancreas	Pancrea
4	chr1:151918800-151925400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:151919000-151921800	Weak transcription	Ovary	ovary
6	chr1:151919200-151922000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:151919600-151921800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:151919600-151921800	Enhancers	Hela-S3	cervix
9	chr1:151919600-151922200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:151919600-151922800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:151919600-151924800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:151919800-151921800	Weak transcription	HSMM	muscle
13	chr1:151919800-151922600	Weak transcription	Fetal Intestine Small	intestine
14	chr1:151919800-151925800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:151920000-151921600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:151920000-151925000	Weak transcription	A549	lung
17	chr1:151920400-151922600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:151921000-151921800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:151921200-151922000	Enhancers	Adipose Nuclei	Adipose
20	chr1:151921400-151922000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:151921400-151922000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:151921400-151922600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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