Variant report

Variant	rs7531111
Chromosome Location	chr1:171160265-171160266
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	chr1:171151483..171154581-chr1:171157949..171161924,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094963	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10912478	0.81[ASN][1000 genomes]
rs10912484	0.81[ASN][1000 genomes]
rs10912486	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912503	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10912504	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10912524	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11803918	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11804100	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11806352	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11806405	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11807206	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12129672	0.81[ASN][1000 genomes]
rs12132443	0.81[ASN][1000 genomes]
rs12133379	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12134777	0.81[ASN][1000 genomes]
rs12136568	0.81[ASN][1000 genomes]
rs12406402	0.81[ASN][1000 genomes]
rs12408043	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12408253	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12566068	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12744605	0.81[ASN][1000 genomes]
rs2205730	0.81[ASN][1000 genomes]
rs2205732	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28369845	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28369881	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4916410	0.81[ASN][1000 genomes]
rs61814303	0.81[ASN][1000 genomes]
rs7887295	0.81[ASN][1000 genomes]
rs7891433	0.81[ASN][1000 genomes]
rs9730437	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[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	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171154200-171160800	Active TSS	Right Atrium	heart
2	chr1:171156400-171165800	Weak transcription	Gastric	stomach
3	chr1:171156600-171163800	Weak transcription	Small Intestine	intestine
4	chr1:171156600-171169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
6	chr1:171156600-171179600	Weak transcription	NHLF	lung
7	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
8	chr1:171157800-171165600	Weak transcription	Ovary	ovary
9	chr1:171158200-171167000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:171158400-171160400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:171158400-171161000	Enhancers	Stomach Mucosa	stomach
12	chr1:171158400-171165600	Weak transcription	Fetal Lung	lung
13	chr1:171158800-171160800	Weak transcription	Liver	Liver
14	chr1:171159000-171160800	Weak transcription	Left Ventricle	heart
15	chr1:171159000-171162000	Enhancers	Adipose Nuclei	Adipose
16	chr1:171159000-171165800	Weak transcription	Lung	lung
17	chr1:171159800-171160800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:171159800-171161200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:171160000-171160400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:171160000-171164800	Weak transcription	Fetal Intestine Small	intestine
21	chr1:171160000-171165000	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:171160200-171160800	Active TSS	Aorta	Aorta
23	chr1:171160200-171166800	Weak transcription	Fetal Brain Male	brain

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