Variant report

Variant	rs171001
Chromosome Location	chr1:171610427-171610428
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171610292..171610843-chr1:171953542..171954408,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs171002	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs182907	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs183532	0.92[CHB][hapmap];0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs2032555	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235861	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs235867	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235868	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235869	0.92[CHB][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs235870	0.85[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs235871	0.92[ASN][1000 genomes]
rs235873	0.92[ASN][1000 genomes]
rs235874	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235876	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs235877	0.88[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs235878	0.91[EUR][1000 genomes]
rs235881	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs235882	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs235917	0.81[YRI][hapmap]
rs235918	0.81[YRI][hapmap]
rs483849	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs603490	0.87[ASN][1000 genomes]
rs603930	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs604864	0.92[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs6425364	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs86857	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv999578	chr1:171578076-171610740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv528322	chr1:171578532-171612267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548191	chr1:171578532-171612267	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171605600-171610800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:171605800-171614400	Weak transcription	Aorta	Aorta
3	chr1:171607800-171612400	Weak transcription	Adipose Nuclei	Adipose
4	chr1:171607800-171614000	Weak transcription	HepG2	liver
5	chr1:171609400-171610800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:171609400-171611200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr1:171609600-171611000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:171609600-171612400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:171609800-171610800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:171609800-171611600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:171610000-171610600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr1:171610000-171610800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:171610000-171611200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:171610000-171611400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:171610000-171611400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:171610000-171614000	Weak transcription	Spleen	Spleen
17	chr1:171610200-171610800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:171610200-171610800	Enhancers	Ovary	ovary
19	chr1:171610400-171610600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:171610400-171610800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr1:171610400-171611600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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