Variant report

Variant	rs73959007
Chromosome Location	chr2:97318581-97318582
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97317694..97320147-chr2:97334657..97337529,2	MCF-7	breast:
2	chr2:97317603..97319582-chr2:97334417..97336425,2	K562	blood:
3	chr2:97318055..97320171-chr2:97327229..97329961,2	MCF-7	breast:
4	chr2:97306401..97310548-chr2:97317760..97320984,3	K562	blood:
5	chr2:97313793..97316048-chr2:97318402..97322451,3	MCF-7	breast:
6	chr2:97311634..97314333-chr2:97317596..97320114,2	K562	blood:

Variant related genes	Relation type
ENSG00000114982	Chromatin interaction
ENSG00000249715	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10207855	1.00[EUR][1000 genomes]
rs1108786	1.00[EUR][1000 genomes]
rs11888876	1.00[EUR][1000 genomes]
rs11890388	1.00[EUR][1000 genomes]
rs11902657	1.00[EUR][1000 genomes]
rs13386976	1.00[EUR][1000 genomes]
rs17119533	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2312956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35069910	1.00[EUR][1000 genomes]
rs3806559	1.00[EUR][1000 genomes]
rs4440007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56246244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57537489	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57754441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58225390	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59503513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6576982	1.00[EUR][1000 genomes]
rs6729813	1.00[EUR][1000 genomes]
rs72939347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939352	1.00[EUR][1000 genomes]
rs72939374	1.00[EUR][1000 genomes]
rs72939397	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941206	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72941231	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72942920	1.00[EUR][1000 genomes]
rs7575530	1.00[EUR][1000 genomes]
rs7583821	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97308800-97322800	Weak transcription	Ovary	ovary
2	chr2:97308800-97329600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:97309000-97321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:97309000-97328200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:97309000-97328600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr2:97309000-97329800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:97309000-97331000	Weak transcription	Right Atrium	heart
8	chr2:97309000-97332000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:97315400-97319600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:97316600-97329000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:97316800-97321200	Weak transcription	Fetal Stomach	stomach
12	chr2:97318200-97319200	Weak transcription	Brain Anterior Caudate	brain

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