Variant report

Variant	rs781261
Chromosome Location	chr2:189653057-189653058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189652355..189655667-chr2:189836980..189839231,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168542	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10172458	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11674580	0.84[ASN][1000 genomes]
rs11676244	0.84[ASN][1000 genomes]
rs11678718	0.84[ASN][1000 genomes]
rs11681365	0.84[ASN][1000 genomes]
rs11682895	1.00[CHB][hapmap];0.84[ASN][1000 genomes]
rs11693891	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11695177	1.00[CHB][hapmap]
rs11695250	0.84[ASN][1000 genomes]
rs11695316	1.00[CHB][hapmap]
rs12463744	1.00[CHB][hapmap]
rs13393057	1.00[CHB][hapmap]
rs13412448	1.00[CHB][hapmap]
rs1354910	1.00[CHB][hapmap]
rs1507551	1.00[CHB][hapmap]
rs1524377	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16830658	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2690761	0.81[AFR][1000 genomes]
rs2690762	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57351486	0.84[ASN][1000 genomes]
rs57832802	0.84[ASN][1000 genomes]
rs58108785	0.84[ASN][1000 genomes]
rs58210062	0.84[ASN][1000 genomes]
rs60162413	0.84[ASN][1000 genomes]
rs60307701	0.84[ASN][1000 genomes]
rs60514585	0.84[ASN][1000 genomes]
rs60602630	0.84[ASN][1000 genomes]
rs60608780	0.84[ASN][1000 genomes]
rs60916684	0.84[ASN][1000 genomes]
rs61011178	0.84[ASN][1000 genomes]
rs6726558	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698573	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72904665	1.00[ASN][1000 genomes]
rs72904689	0.84[ASN][1000 genomes]
rs72904690	0.84[ASN][1000 genomes]
rs72904691	0.84[ASN][1000 genomes]
rs72904695	0.84[ASN][1000 genomes]
rs72904696	0.84[ASN][1000 genomes]
rs72904698	0.84[ASN][1000 genomes]
rs72904701	0.84[ASN][1000 genomes]
rs72904702	0.84[ASN][1000 genomes]
rs72906605	0.84[ASN][1000 genomes]
rs72906607	0.84[ASN][1000 genomes]
rs72906616	0.84[ASN][1000 genomes]
rs72906620	0.84[ASN][1000 genomes]
rs72906631	0.84[ASN][1000 genomes]
rs72906633	0.84[ASN][1000 genomes]
rs72906638	0.84[ASN][1000 genomes]
rs72906640	0.84[ASN][1000 genomes]
rs72906664	0.84[ASN][1000 genomes]
rs72906691	0.84[ASN][1000 genomes]
rs72906692	0.84[ASN][1000 genomes]
rs72906695	0.84[ASN][1000 genomes]
rs72906698	0.84[ASN][1000 genomes]
rs7565039	0.84[ASN][1000 genomes]
rs7607418	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7609094	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781234	0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781253	0.82[AMR][1000 genomes]
rs781263	0.86[AMR][1000 genomes]
rs781275	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781277	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781279	0.90[AFR][1000 genomes]
rs781280	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781281	0.96[AFR][1000 genomes]
rs781284	0.96[AFR][1000 genomes]
rs781285	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs781286	0.96[AFR][1000 genomes]
rs781287	0.96[AFR][1000 genomes]
rs781288	0.96[AFR][1000 genomes]
rs8273	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189648400-189653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:189650400-189653600	Enhancers	Fetal Stomach	stomach
3	chr2:189650400-189653800	Enhancers	Fetal Heart	heart
4	chr2:189650400-189654000	Enhancers	NH-A	brain
5	chr2:189650800-189653200	Enhancers	HUVEC	blood vessel
6	chr2:189650800-189653800	Enhancers	NHEK	skin
7	chr2:189651000-189653400	Active TSS	Stomach Smooth Muscle	stomach
8	chr2:189651000-189653600	Enhancers	Rectal Smooth Muscle	rectum
9	chr2:189651200-189653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:189651200-189653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:189651200-189653600	Enhancers	HMEC	breast
12	chr2:189651200-189653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:189651200-189653800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:189651400-189653600	Enhancers	A549	lung
15	chr2:189651400-189653800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:189651600-189653400	Flanking Active TSS	NHDF-Ad	bronchial
17	chr2:189651800-189653400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:189651800-189653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:189652200-189653400	Enhancers	HSMM	muscle
20	chr2:189652400-189653400	Active TSS	Fetal Muscle Leg	muscle
21	chr2:189652400-189653800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:189652400-189653800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:189652400-189656000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:189652600-189653600	Enhancers	Brain Hippocampus Middle	brain
25	chr2:189652600-189653600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr2:189652800-189653200	Enhancers	Osteobl	bone
27	chr2:189652800-189653400	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr2:189652800-189653400	Enhancers	HSMMtube	muscle
29	chr2:189652800-189653800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:189652800-189653800	Enhancers	Fetal Lung	lung
31	chr2:189652800-189654000	Enhancers	Colon Smooth Muscle	Colon
32	chr2:189653000-189653400	Enhancers	Adipose Nuclei	Adipose
33	chr2:189653000-189653400	Enhancers	Fetal Kidney	kidney
34	chr2:189653000-189653400	Enhancers	NHLF	lung
35	chr2:189653000-189654400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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