Variant report

Variant	rs12124387
Chromosome Location	chr1:186153618-186153619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186149621..186151252-chr1:186152993..186154563,2	K562	blood:
2	chr1:186148276..186150071-chr1:186151136..186154406,3	MCF-7	breast:
3	chr1:186152958..186154907-chr1:186156624..186160486,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10911836	0.92[CEU][hapmap]
rs11583483	0.81[EUR][1000 genomes]
rs12027688	1.00[JPT][hapmap]
rs12120763	0.92[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1322376	0.92[CEU][hapmap]
rs1358933	0.82[AFR][1000 genomes]
rs16825040	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs56267286	0.85[ASN][1000 genomes]
rs6425021	1.00[CEU][hapmap]
rs6680616	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72707469	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:186136800-186157000	Weak transcription	Aorta	Aorta
5	chr1:186145000-186158400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr1:186148000-186157000	Weak transcription	Left Ventricle	heart
7	chr1:186151200-186155200	Enhancers	HMEC	breast
8	chr1:186151200-186156800	Enhancers	NHEK	skin
9	chr1:186151400-186153800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:186151600-186154800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:186152400-186153800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr1:186152400-186155000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:186152800-186154000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:186153000-186156800	Weak transcription	Esophagus	oesophagus
15	chr1:186153000-186156800	Weak transcription	Lung	lung
16	chr1:186153000-186160600	Weak transcription	Spleen	Spleen
17	chr1:186153200-186153800	Enhancers	Adipose Nuclei	Adipose
18	chr1:186153200-186153800	Active TSS	A549	lung
19	chr1:186153200-186153800	Active TSS	NHDF-Ad	bronchial
20	chr1:186153200-186153800	Active TSS	NHLF	lung
21	chr1:186153200-186154000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:186153200-186155000	Enhancers	HSMM	muscle
23	chr1:186153200-186155600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:186153200-186155600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:186153200-186156400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:186153200-186156400	Weak transcription	Right Atrium	heart
27	chr1:186153200-186156800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:186153400-186153800	Enhancers	Liver	Liver
29	chr1:186153400-186154200	Enhancers	HSMMtube	muscle
30	chr1:186153400-186156800	Weak transcription	Hela-S3	cervix
31	chr1:186153400-186157000	Weak transcription	Thymus	Thymus
32	chr1:186153400-186157200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:186153600-186155000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:186153600-186155200	Enhancers	Osteobl	bone
35	chr1:186153600-186155400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:186153600-186156000	Weak transcription	NH-A	brain
37	chr1:186153600-186156800	Weak transcription	Fetal Lung	lung
38	chr1:186153600-186156800	Weak transcription	K562	blood
39	chr1:186153600-186157000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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