Variant report

Variant	rs1347721
Chromosome Location	chr2:101039497-101039498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:101029935..101035569-chr2:101035669..101041059,9	MCF-7	breast:
2	chr2:101032643..101036022-chr2:101036491..101040981,5	K562	blood:
3	chr2:100907128..100908845-chr2:101037649..101040314,2	MCF-7	breast:
4	chr2:100882939..100884943-chr2:101037829..101040208,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115526	Chromatin interaction

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10167159	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10180570	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184899	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10193535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198495	0.88[ASN][1000 genomes]
rs10198682	0.88[ASN][1000 genomes]
rs10200480	0.88[ASN][1000 genomes]
rs10201098	0.88[ASN][1000 genomes]
rs10204833	0.88[ASN][1000 genomes]
rs10206374	1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10208900	0.88[ASN][1000 genomes]
rs10208911	0.88[ASN][1000 genomes]
rs10209186	0.88[ASN][1000 genomes]
rs1057056	0.90[AMR][1000 genomes]
rs1057063	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1107429	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs1124009	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391930	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13396147	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13400841	0.90[AMR][1000 genomes]
rs13404823	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407408	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407648	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13407891	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13410582	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13419808	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13420942	0.88[ASN][1000 genomes]
rs1370627	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1437970	0.88[ASN][1000 genomes]
rs17023985	0.88[ASN][1000 genomes]
rs17024035	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs17024129	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024133	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17024136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024144	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17024209	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1898571	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1898574	0.88[ASN][1000 genomes]
rs2309793	0.88[ASN][1000 genomes]
rs2309801	0.90[AMR][1000 genomes]
rs3748936	0.90[AMR][1000 genomes]
rs4149506	0.87[AMR][1000 genomes]
rs4149509	0.87[AMR][1000 genomes]
rs4149514	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4149515	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55640826	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55843950	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56051859	0.88[ASN][1000 genomes]
rs56118658	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56342384	0.88[ASN][1000 genomes]
rs56656536	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56741959	0.90[AMR][1000 genomes]
rs57862179	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58164864	0.90[AMR][1000 genomes]
rs58876304	1.00[ASN][1000 genomes]
rs59340778	1.00[EUR][1000 genomes]
rs60131548	1.00[ASN][1000 genomes]
rs60609848	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60898093	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61321970	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61559573	1.00[EUR][1000 genomes]
rs61710328	0.90[AMR][1000 genomes]
rs6542931	0.88[ASN][1000 genomes]
rs6542932	0.88[ASN][1000 genomes]
rs6542939	0.88[ASN][1000 genomes]
rs6542941	0.88[ASN][1000 genomes]
rs6708942	1.00[ASN][1000 genomes]
rs6713862	1.00[ASN][1000 genomes]
rs6714109	0.88[ASN][1000 genomes]
rs6716009	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6716367	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6724695	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725672	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs6732285	1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs6736938	0.87[AMR][1000 genomes]
rs6739576	0.88[ASN][1000 genomes]
rs6739589	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6740098	0.88[ASN][1000 genomes]
rs6749572	0.87[AMR][1000 genomes]
rs6750866	0.88[ASN][1000 genomes]
rs6754379	0.88[ASN][1000 genomes]
rs6754869	0.90[AMR][1000 genomes]
rs6755285	0.90[AMR][1000 genomes]
rs6755395	0.88[ASN][1000 genomes]
rs6757774	1.00[ASN][1000 genomes]
rs6758156	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6758161	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6758515	1.00[ASN][1000 genomes]
rs6758622	0.90[AMR][1000 genomes]
rs6761084	0.90[AMR][1000 genomes]
rs6761561	1.00[ASN][1000 genomes]
rs72960172	0.88[ASN][1000 genomes]
rs72960184	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72960186	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72960202	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73966107	0.88[ASN][1000 genomes]
rs73966108	0.88[ASN][1000 genomes]
rs73968412	0.88[ASN][1000 genomes]
rs73968415	0.82[ASN][1000 genomes]
rs73968817	0.88[ASN][1000 genomes]
rs7556717	0.88[ASN][1000 genomes]
rs7557137	0.88[ASN][1000 genomes]
rs7559939	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7559946	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7561065	0.87[AMR][1000 genomes]
rs7562461	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562479	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562486	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7562615	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7564178	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7572119	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7574684	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7575422	0.83[AMR][1000 genomes]
rs7576749	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7582096	0.87[AMR][1000 genomes]
rs7582546	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7585713	0.87[AMR][1000 genomes]
rs7585898	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7587333	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596483	0.90[AMR][1000 genomes]
rs7597631	0.88[ASN][1000 genomes]
rs7597722	0.88[ASN][1000 genomes]
rs7606723	0.88[ASN][1000 genomes]
rs9308834	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv582531	chr2:100908508-101207639	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv916792	chr2:101021066-101525200	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
5	nsv582532	chr2:101029002-101531943	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:101034600-101043000	Weak transcription	Placenta	Placenta
2	chr2:101034800-101043800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:101035000-101040000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:101035200-101039800	Weak transcription	NHDF-Ad	bronchial
5	chr2:101035200-101040400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:101036200-101039600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:101036200-101039600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:101038800-101040000	Enhancers	Colon Smooth Muscle	Colon
9	chr2:101039400-101040000	Weak transcription	Fetal Lung	lung

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