Variant report

Variant	rs171002
Chromosome Location	chr1:171615419-171615420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171614558..171616177-chr1:171708966..171711154,2	MCF-7	breast:
2	chr1:171614465..171616509-chr1:171619659..171622072,2	MCF-7	breast:
3	chr1:171614371..171616986-chr1:171628195..171631368,3	K562	blood:
4	chr1:171613352..171616352-chr1:171748530..171751285,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000034971	Chromatin interaction
ENSG00000010165	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs171001	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs182907	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs183532	0.81[JPT][hapmap]
rs2032555	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs235861	0.94[EUR][1000 genomes]
rs235867	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235868	1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs235869	0.81[JPT][hapmap]
rs235870	0.82[JPT][hapmap]
rs235874	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235876	1.00[CEU][hapmap];0.81[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235877	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs235878	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235881	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs235882	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs235913	0.86[YRI][hapmap]
rs483849	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs603930	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6425364	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs86857	0.84[AFR][1000 genomes];0.93[EUR][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	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
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr1:171611400-171615800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:171613000-171616200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:171613600-171615600	Enhancers	Liver	Liver
4	chr1:171614200-171615600	Enhancers	Fetal Heart	heart
5	chr1:171614200-171619000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:171614600-171615600	Enhancers	NHDF-Ad	bronchial
7	chr1:171614600-171616200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:171614600-171624600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:171615000-171615600	Enhancers	Rectal Smooth Muscle	rectum
10	chr1:171615000-171616200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:171615000-171616400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:171615200-171615600	Enhancers	Colon Smooth Muscle	Colon
13	chr1:171615200-171623600	Weak transcription	Right Atrium	heart
14	chr1:171615400-171616600	Weak transcription	Placenta	Placenta
15	chr1:171615400-171619000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:171615400-171620400	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:171615400-171621000	Weak transcription	Left Ventricle	heart
18	chr1:171615400-171621200	Weak transcription	Aorta	Aorta
19	chr1:171615400-171621600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:171615400-171622800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:171615400-171623000	Weak transcription	HSMM	muscle

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