Variant report

Variant	rs60847271
Chromosome Location	chr1:226063639-226063640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:
2	chr1:226016918..226019631-chr1:226062636..226064658,2	K562	blood:
3	chr1:226061743..226065093-chr1:226081244..226084907,3	MCF-7	breast:
4	chr1:226060392..226063729-chr1:226110650..226113605,4	MCF-7	breast:
5	chr1:225839309..225842570-chr1:226062972..226068660,6	MCF-7	breast:
6	chr1:226058705..226061570-chr1:226062112..226065041,3	K562	blood:
7	chr1:226033230..226036408-chr1:226061975..226066194,3	MCF-7	breast:
8	chr1:226060345..226063874-chr1:226111222..226114417,3	MCF-7	breast:
9	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
10	chr1:226044051..226045596-chr1:226062360..226064718,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000154380	Chromatin interaction
ENSG00000243709	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000242861	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10047091	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12061043	0.95[EUR][1000 genomes]
rs12071072	0.95[EUR][1000 genomes]
rs12071104	0.95[EUR][1000 genomes]
rs12074209	0.95[EUR][1000 genomes]
rs12074247	0.95[EUR][1000 genomes]
rs12075664	0.95[EUR][1000 genomes]
rs2236143	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2271544	1.00[EUR][1000 genomes]
rs2292556	0.95[EUR][1000 genomes]
rs2292559	0.95[EUR][1000 genomes]
rs2292561	0.95[EUR][1000 genomes]
rs2292568	0.92[EUR][1000 genomes]
rs28384446	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28384447	0.90[EUR][1000 genomes]
rs28384448	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28384449	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3738050	0.95[EUR][1000 genomes]
rs3738051	0.95[EUR][1000 genomes]
rs3753663	0.95[EUR][1000 genomes]
rs3753666	0.97[EUR][1000 genomes]
rs3753668	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3753670	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3766935	0.95[EUR][1000 genomes]
rs3766936	0.95[EUR][1000 genomes]
rs3766937	0.95[EUR][1000 genomes]
rs3766940	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766941	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3806257	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3806258	0.95[EUR][1000 genomes]
rs41310561	0.95[EUR][1000 genomes]
rs4149227	0.92[EUR][1000 genomes]
rs4149228	0.95[EUR][1000 genomes]
rs4149230	0.95[EUR][1000 genomes]
rs45467394	0.90[EUR][1000 genomes]
rs56231004	0.95[EUR][1000 genomes]
rs56325807	0.95[EUR][1000 genomes]
rs57095220	0.95[EUR][1000 genomes]
rs57932384	0.95[EUR][1000 genomes]
rs59728172	0.95[EUR][1000 genomes]
rs60943392	0.95[EUR][1000 genomes]
rs61033712	0.95[EUR][1000 genomes]
rs61227102	0.95[EUR][1000 genomes]
rs61295362	0.95[EUR][1000 genomes]
rs6664740	0.95[EUR][1000 genomes]
rs74150536	0.95[EUR][1000 genomes]
rs7514448	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7516538	0.95[EUR][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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
2	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
3	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
4	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
5	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:226051800-226066400	Genic enhancers	Primary T cells fromperipheralblood	blood
11	chr1:226052600-226064200	Strong transcription	Right Ventricle	heart
12	chr1:226054000-226065000	Strong transcription	Stomach Smooth Muscle	stomach
13	chr1:226054200-226063800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:226054200-226064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:226054400-226065000	Strong transcription	Lung	lung
16	chr1:226054400-226065600	Strong transcription	Fetal Stomach	stomach
17	chr1:226054400-226065800	Weak transcription	HUVEC	blood vessel
18	chr1:226054600-226065200	Strong transcription	Spleen	Spleen
19	chr1:226054600-226065800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:226054800-226065800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr1:226055000-226064200	Strong transcription	Primary B cells from cord blood	blood
22	chr1:226055000-226065000	Weak transcription	Psoas Muscle	Psoas
23	chr1:226055000-226065400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:226055000-226065600	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:226055000-226066600	Weak transcription	Dnd41	blood
26	chr1:226055200-226065000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:226055200-226065400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:226056200-226065200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:226057200-226064600	Strong transcription	Adipose Nuclei	Adipose
30	chr1:226057200-226065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr1:226058400-226064600	Weak transcription	Hela-S3	cervix
32	chr1:226058400-226067200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:226058600-226065600	Strong transcription	K562	blood
34	chr1:226059600-226068800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:226059800-226065000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:226059800-226066600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr1:226059800-226066800	Genic enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:226060000-226065000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:226060000-226065200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:226060200-226064600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:226060200-226068600	Weak transcription	NH-A	brain
42	chr1:226060400-226064800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:226060400-226065000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:226060600-226066400	Genic enhancers	Placenta	Placenta
45	chr1:226060800-226064200	Genic enhancers	Esophagus	oesophagus
46	chr1:226060800-226065000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:226060800-226065400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:226060800-226065600	Genic enhancers	Pancreas	Pancrea
49	chr1:226060800-226066000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:226061000-226065000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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