Variant report

Variant	rs7594227
Chromosome Location	chr2:97605748-97605749
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
2	chr2:97593591..97596299-chr2:97605457..97607301,3	K562	blood:
3	chr2:97590638..97593151-chr2:97603890..97606956,4	K562	blood:
4	chr2:97534564..97537262-chr2:97605518..97607538,2	K562	blood:
5	chr2:97596756..97599401-chr2:97603450..97605798,2	K562	blood:

Variant related genes	Relation type
ENSG00000163126	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000168758	Chromatin interaction

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

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

rs_ID	r²[population]
rs10874468	0.83[ASW][hapmap]
rs11891458	0.82[EUR][1000 genomes]
rs11897551	0.92[ASN][1000 genomes]
rs1257026	0.91[ASW][hapmap]
rs1320147	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.80[LWK][hapmap];0.84[MEX][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13403225	1.00[ASW][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.80[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2872686	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs57035274	0.83[EUR][1000 genomes]
rs59178801	0.85[EUR][1000 genomes]
rs60019075	0.85[EUR][1000 genomes]
rs60608738	0.85[EUR][1000 genomes]
rs60621865	0.92[ASN][1000 genomes]
rs6576996	0.90[CEU][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6728642	0.85[EUR][1000 genomes]
rs73959416	0.85[EUR][1000 genomes]
rs7574488	0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7580504	0.86[EUR][1000 genomes]
rs7584641	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs7592101	0.84[GIH][hapmap];0.82[MEX][hapmap]
rs7593754	0.80[CEU][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv1001432	chr2:97591069-97671395	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97594000-97610200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:97597200-97606000	Weak transcription	Fetal Thymus	thymus
3	chr2:97598400-97605800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:97599800-97609400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:97600200-97605800	Weak transcription	Fetal Brain Male	brain
6	chr2:97600200-97610400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:97604200-97605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:97605200-97606000	Weak transcription	Right Atrium	heart
9	chr2:97605400-97606200	Enhancers	Brain Angular Gyrus	brain
10	chr2:97605400-97606200	Enhancers	Brain Substantia Nigra	brain
11	chr2:97605400-97606400	Enhancers	Brain Cingulate Gyrus	brain
12	chr2:97605400-97606400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:97605400-97607800	Enhancers	Primary T cells fromperipheralblood	blood
14	chr2:97605600-97606000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:97605600-97606200	Enhancers	Brain Hippocampus Middle	brain
16	chr2:97605600-97606200	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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