Variant report

Variant	rs57095220
Chromosome Location	chr1:226059510-226059511
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226050607..226053487-chr1:226058918..226061086,2	K562	blood:
2	chr1:226054613..226057085-chr1:226059205..226061185,3	K562	blood:
3	chr1:226057824..226059681-chr1:226108148..226109979,2	MCF-7	breast:
4	chr1:226058705..226061570-chr1:226062112..226065041,3	K562	blood:
5	chr1:226059449..226061032-chr1:226072512..226074332,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10047091	0.90[EUR][1000 genomes]
rs12061043	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12071072	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12071104	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12074209	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12074247	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12075664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236143	0.87[EUR][1000 genomes]
rs2271544	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2292556	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292559	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292560	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292568	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28384446	0.92[EUR][1000 genomes]
rs28384447	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28384448	0.95[EUR][1000 genomes]
rs28384449	0.95[EUR][1000 genomes]
rs360084	1.00[ASN][1000 genomes]
rs360087	1.00[ASN][1000 genomes]
rs360089	1.00[ASN][1000 genomes]
rs3738050	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3738051	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3753663	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3753666	0.92[EUR][1000 genomes]
rs3753668	0.90[EUR][1000 genomes]
rs3753670	0.90[EUR][1000 genomes]
rs3766935	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766936	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766937	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766940	0.95[EUR][1000 genomes]
rs3766941	0.90[EUR][1000 genomes]
rs3806257	0.90[EUR][1000 genomes]
rs3806258	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41310561	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4149227	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149228	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149230	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45467394	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56231004	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56301120	0.99[ASN][1000 genomes]
rs56325807	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57932384	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59728172	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60847271	0.95[EUR][1000 genomes]
rs60943392	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61033712	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61227102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61295362	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664740	0.90[EUR][1000 genomes]
rs74150536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514448	0.90[EUR][1000 genomes]
rs7516538	0.90[EUR][1000 genomes]
rs805179	1.00[ASN][1000 genomes]

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	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
8	nsv160017	chr1:226057382-226060403	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	2 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	chr1:226026800-226061600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:226033800-226067400	Strong transcription	H9 Cell Line	embryonic stem cell
3	chr1:226034000-226063000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:226034200-226062800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:226036600-226064600	Weak transcription	Fetal Heart	heart
6	chr1:226036800-226066600	Weak transcription	Fetal Brain Male	brain
7	chr1:226037600-226060600	Strong transcription	Placenta	Placenta
8	chr1:226037800-226065200	Weak transcription	Right Atrium	heart
9	chr1:226038400-226059600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:226038800-226065800	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:226039000-226063200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:226039200-226064600	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:226039600-226059800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:226039600-226062200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:226039600-226063000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:226041400-226064600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:226044400-226062800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:226044600-226065800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:226045000-226060800	Strong transcription	Liver	Liver
20	chr1:226046200-226063000	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:226047600-226063200	Strong transcription	Left Ventricle	heart
22	chr1:226048000-226060000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr1:226048400-226062600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:226050200-226068600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr1:226051800-226066400	Genic enhancers	Primary T cells fromperipheralblood	blood
26	chr1:226052200-226059800	Strong transcription	NHLF	lung
27	chr1:226052600-226064200	Strong transcription	Right Ventricle	heart
28	chr1:226052800-226059800	Strong transcription	Colon Smooth Muscle	Colon
29	chr1:226052800-226060000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:226053000-226059600	Strong transcription	Esophagus	oesophagus
31	chr1:226053200-226059600	Strong transcription	Rectal Smooth Muscle	rectum
32	chr1:226053200-226062000	Strong transcription	Fetal Intestine Large	intestine
33	chr1:226053200-226063600	Strong transcription	Ovary	ovary
34	chr1:226053400-226062200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:226053600-226062600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:226053600-226062800	Strong transcription	Fetal Intestine Small	intestine
37	chr1:226054000-226065000	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:226054200-226063800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:226054200-226064800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:226054400-226065000	Strong transcription	Lung	lung
41	chr1:226054400-226065600	Strong transcription	Fetal Stomach	stomach
42	chr1:226054400-226065800	Weak transcription	HUVEC	blood vessel
43	chr1:226054600-226060000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:226054600-226063400	Strong transcription	Fetal Muscle Trunk	muscle
45	chr1:226054600-226065200	Strong transcription	Spleen	Spleen
46	chr1:226054600-226065800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr1:226054800-226060800	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr1:226054800-226063400	Strong transcription	GM12878-XiMat	blood
49	chr1:226054800-226065800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:226055000-226062800	Strong transcription	Thymus	Thymus

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