Variant report

Variant	rs60068409
Chromosome Location	chr1:186820464-186820465
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12720496	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12720500	1.00[EUR][1000 genomes]
rs12720505	1.00[EUR][1000 genomes]
rs12720562	1.00[EUR][1000 genomes]
rs12720690	1.00[EUR][1000 genomes]
rs41516146	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58494780	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58537066	0.93[AFR][1000 genomes]
rs73053092	1.00[EUR][1000 genomes]
rs7513536	1.00[EUR][1000 genomes]
rs7546816	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186800200-186827800	Weak transcription	NHEK	skin
2	chr1:186808600-186828200	Weak transcription	Pancreas	Pancrea
3	chr1:186808600-186830800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:186810400-186824800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr1:186815200-186823400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:186815200-186844800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:186817600-186824600	Weak transcription	Adipose Nuclei	Adipose
8	chr1:186817800-186839000	Weak transcription	Hela-S3	cervix
9	chr1:186818000-186831000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:186818000-186834600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:186818200-186823400	Weak transcription	Fetal Lung	lung
12	chr1:186818600-186824000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:186818800-186828600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:186819000-186827800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:186819200-186823000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:186819200-186823200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:186819200-186824600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:186819200-186825400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:186819600-186824000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:186819800-186823000	Weak transcription	A549	lung
21	chr1:186819800-186824600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:186820000-186823000	Weak transcription	Stomach Mucosa	stomach
23	chr1:186820000-186823800	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr1:186820000-186823800	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:186820200-186820600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links