Variant report

Variant	rs60132040
Chromosome Location	chr1:226020016-226020017
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	chr1:225839806..225841875-chr1:226019865..226022618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10915883	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10915886	0.89[AFR][1000 genomes]
rs10915887	0.82[AFR][1000 genomes]
rs10915888	0.82[AFR][1000 genomes]
rs12070110	0.89[AFR][1000 genomes]
rs12070816	0.89[AFR][1000 genomes]
rs12071413	0.89[AFR][1000 genomes]
rs12075664	0.86[AFR][1000 genomes]
rs12077174	0.90[AFR][1000 genomes]
rs12077562	0.89[AFR][1000 genomes]
rs12077565	0.89[AFR][1000 genomes]
rs12079891	0.82[AFR][1000 genomes]
rs12083928	0.89[AFR][1000 genomes]
rs12084714	0.89[AFR][1000 genomes]
rs12088057	0.84[AFR][1000 genomes]
rs12091106	0.89[AFR][1000 genomes]
rs55706532	0.89[AFR][1000 genomes]
rs58852301	0.89[AFR][1000 genomes]
rs61304305	0.89[AFR][1000 genomes]
rs74150537	0.81[AFR][1000 genomes]
rs74150538	0.82[AFR][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	nsv947519	chr1:225998770-226034631	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv945328	chr1:226015604-226031170	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226006200-226022000	Weak transcription	NHDF-Ad	bronchial
2	chr1:226013400-226031800	Weak transcription	Fetal Kidney	kidney
3	chr1:226013600-226052600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:226013800-226032000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:226013800-226037200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:226014000-226032800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:226014400-226021200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:226014600-226022400	Weak transcription	Right Atrium	heart
9	chr1:226014600-226035600	Weak transcription	Small Intestine	intestine
10	chr1:226014800-226047800	Weak transcription	Psoas Muscle	Psoas
11	chr1:226015000-226022400	Weak transcription	Right Ventricle	heart
12	chr1:226015000-226022400	Weak transcription	Stomach Mucosa	stomach
13	chr1:226015400-226026400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:226015400-226032400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:226015400-226033200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:226015600-226021400	Strong transcription	Stomach Smooth Muscle	stomach
17	chr1:226015600-226033600	Weak transcription	K562	blood
18	chr1:226016000-226051000	Weak transcription	NH-A	brain
19	chr1:226016200-226020600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:226016400-226021000	Strong transcription	Ovary	ovary
21	chr1:226016400-226021400	Strong transcription	Brain Hippocampus Middle	brain
22	chr1:226016400-226022000	Strong transcription	Fetal Stomach	stomach
23	chr1:226016400-226033400	Strong transcription	Fetal Intestine Small	intestine
24	chr1:226016600-226021000	Strong transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:226016600-226021400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:226016600-226021400	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:226016600-226021400	Strong transcription	Lung	lung
28	chr1:226016600-226023800	Genic enhancers	Liver	Liver
29	chr1:226016800-226020600	Strong transcription	Brain Anterior Caudate	brain
30	chr1:226016800-226020600	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:226016800-226021000	Strong transcription	Fetal Lung	lung
32	chr1:226016800-226021000	Strong transcription	HepG2	liver
33	chr1:226016800-226021200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:226016800-226021200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:226016800-226021200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:226016800-226021200	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:226016800-226021400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:226016800-226022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:226016800-226033600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:226017000-226020400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:226017000-226020800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr1:226017000-226021400	Strong transcription	Colon Smooth Muscle	Colon
43	chr1:226017000-226022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr1:226017200-226021000	Strong transcription	Fetal Intestine Large	intestine
45	chr1:226017200-226021400	Strong transcription	Adipose Nuclei	Adipose
46	chr1:226017200-226022400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:226017400-226049800	Weak transcription	HUVEC	blood vessel
48	chr1:226018000-226021400	Strong transcription	A549	lung
49	chr1:226018000-226022400	Weak transcription	Gastric	stomach
50	chr1:226018400-226022400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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