Variant report

Variant	rs2026563
Chromosome Location	chr1:153458608-153458609
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:153442375..153445170-chr1:153456426..153458929,2	MCF-7	breast:
2	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
3	chr1:153367009..153368544-chr1:153456624..153459819,3	MCF-7	breast:
4	chr1:153457718..153462195-chr1:153468437..153470953,3	K562	blood:
5	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
6	chr1:153455880..153459414-chr1:153459858..153461522,3	MCF-7	breast:
7	chr1:153435205..153438006-chr1:153456451..153458680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000163220	Chromatin interaction
ENSG00000163218	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1359627	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409367	0.87[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1409368	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555886	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835341	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835343	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1853956	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1998844	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2339694	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2986206	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2986210	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2986214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3006426	0.84[ASN][1000 genomes]
rs3006428	0.84[ASN][1000 genomes]
rs3006429	0.84[ASN][1000 genomes]
rs3006430	0.82[ASN][1000 genomes]
rs3006433	0.94[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs3006438	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3014829	0.81[ASN][1000 genomes]
rs3014831	0.84[ASN][1000 genomes]
rs3014832	0.83[ASN][1000 genomes]
rs3014833	0.82[ASN][1000 genomes]
rs3014835	0.85[ASN][1000 genomes]
rs3014836	0.89[ASN][1000 genomes]
rs3014838	0.89[ASN][1000 genomes]
rs3014839	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3014843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3014845	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3014849	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3014851	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3125233	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6587742	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6667320	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs719081	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs875501	0.85[ASN][1000 genomes]
rs9435988	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9633411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 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	chr1:153451000-153467400	Weak transcription	Ovary	ovary
2	chr1:153455400-153462200	Weak transcription	Right Ventricle	heart
3	chr1:153456800-153461400	Weak transcription	Hela-S3	cervix
4	chr1:153457200-153458800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:153457200-153460200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:153457200-153461000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:153457200-153462600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:153457200-153465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:153457600-153459400	Enhancers	Fetal Heart	heart
10	chr1:153458200-153459000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:153458200-153459000	Enhancers	Right Atrium	heart
12	chr1:153458200-153459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:153458200-153461200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:153458400-153458800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:153458400-153458800	Weak transcription	Esophagus	oesophagus
16	chr1:153458400-153459000	Enhancers	Fetal Muscle Leg	muscle
17	chr1:153458400-153459000	Enhancers	Left Ventricle	heart
18	chr1:153458400-153459000	Enhancers	HMEC	breast
19	chr1:153458400-153459000	Bivalent Enhancer	NHDF-Ad	bronchial
20	chr1:153458400-153461000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr1:153458600-153459000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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