Variant report

Variant	rs2049702
Chromosome Location	chr7:121154854-121154855
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121035021..121038674-chr7:121152068..121155542,3	K562	blood:
2	chr7:121154838..121156881-chr7:121159620..121161835,2	K562	blood:

Variant related genes	Relation type
ENSG00000213310	Chromatin interaction
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10228676	0.98[ASN][1000 genomes]
rs10233243	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10237611	0.83[ASN][1000 genomes]
rs10240973	0.98[ASN][1000 genomes]
rs10253256	0.98[ASN][1000 genomes]
rs10258260	0.98[ASN][1000 genomes]
rs10258506	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258640	0.98[ASN][1000 genomes]
rs10259325	0.82[ASN][1000 genomes]
rs10270561	0.98[ASN][1000 genomes]
rs10480752	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs10953936	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10953937	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11761290	0.98[ASN][1000 genomes]
rs12535189	0.83[ASN][1000 genomes]
rs12540408	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13229583	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1358498	0.87[CHB][hapmap];0.83[CHD][hapmap]
rs1406194	0.98[ASN][1000 genomes]
rs1528352	0.87[ASN][1000 genomes]
rs1881374	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1881375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1881376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1919086	0.97[ASN][1000 genomes]
rs1983493	0.97[ASN][1000 genomes]
rs1983494	0.98[ASN][1000 genomes]
rs1983495	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983496	0.98[ASN][1000 genomes]
rs2103298	0.98[ASN][1000 genomes]
rs2103299	0.98[ASN][1000 genomes]
rs2141364	0.98[ASN][1000 genomes]
rs2178188	0.98[ASN][1000 genomes]
rs28485397	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28578522	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28696257	0.98[ASN][1000 genomes]
rs34843814	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3847091	0.98[ASN][1000 genomes]
rs3847092	0.98[ASN][1000 genomes]
rs3857836	0.98[ASN][1000 genomes]
rs4145963	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.80[ASN][1000 genomes]
rs4727933	0.87[ASN][1000 genomes]
rs4731023	0.98[ASN][1000 genomes]
rs4731024	0.98[ASN][1000 genomes]
rs4731025	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5000114	0.91[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];0.91[YRI][hapmap];0.80[ASN][1000 genomes]
rs6953922	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6954048	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6960065	0.98[ASN][1000 genomes]
rs7777295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7777787	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7787312	0.98[ASN][1000 genomes]
rs7791746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7793736	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7795140	0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs867706	0.98[ASN][1000 genomes]
rs9649443	0.84[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	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr7:121151400-121155000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:121151400-121155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:121151400-121155400	Weak transcription	Adipose Nuclei	Adipose
4	chr7:121151600-121155000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:121152600-121161600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:121154000-121155400	Enhancers	NHDF-Ad	bronchial
7	chr7:121154400-121155200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:121154800-121155400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:121154800-121156200	Weak transcription	Rectal Smooth Muscle	rectum

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