Variant report

Variant	rs67975878
Chromosome Location	chr1:171051819-171051820
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171050389..171052635-chr1:171054264..171056388,2	MCF-7	breast:
2	chr1:171051388..171052230-chr1:171195968..171196512,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12402693	1.00[ASN][1000 genomes]
rs12404183	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404218	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863989	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16863990	1.00[ASN][1000 genomes]
rs28363515	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28745581	0.86[ASN][1000 genomes]
rs28745584	0.86[ASN][1000 genomes]
rs3754489	1.00[ASN][1000 genomes]
rs3754491	0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66937021	1.00[ASN][1000 genomes]
rs67806272	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7051095	0.80[AFR][1000 genomes]
rs7053972	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7057100	0.85[EUR][1000 genomes]
rs7066402	0.85[EUR][1000 genomes]
rs72637246	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72712638	0.95[ASN][1000 genomes]
rs7474070	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171050200-171053800	Enhancers	Fetal Intestine Large	intestine
2	chr1:171050600-171052000	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr1:171050600-171052200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:171050600-171052800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr1:171050600-171052800	Enhancers	Duodenum Mucosa	Duodenum
6	chr1:171050600-171053600	Enhancers	Fetal Intestine Small	intestine
7	chr1:171050600-171053600	Enhancers	Fetal Lung	lung
8	chr1:171050800-171052000	Enhancers	Colon Smooth Muscle	Colon
9	chr1:171050800-171052200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:171051000-171052600	Weak transcription	Right Ventricle	heart
11	chr1:171051000-171052800	Weak transcription	Fetal Heart	heart
12	chr1:171051000-171053200	Weak transcription	Stomach Mucosa	stomach
13	chr1:171051200-171052400	Weak transcription	Left Ventricle	heart
14	chr1:171051200-171052400	Weak transcription	Ovary	ovary
15	chr1:171051200-171052400	Weak transcription	Small Intestine	intestine
16	chr1:171051400-171052000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:171051400-171052800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:171051400-171052800	Enhancers	NHLF	lung
19	chr1:171051400-171054000	Weak transcription	Fetal Kidney	kidney
20	chr1:171051600-171052000	Enhancers	Liver	Liver
21	chr1:171051600-171052200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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