Variant report

Variant	rs74158948
Chromosome Location	chr1:210799324-210799325
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	chr1:210789734..210791286-chr1:210797851..210799560,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11804564	1.00[EUR][1000 genomes]
rs12064860	1.00[EUR][1000 genomes]
rs12086850	1.00[EUR][1000 genomes]
rs12092331	1.00[EUR][1000 genomes]
rs4297293	1.00[EUR][1000 genomes]
rs58495788	1.00[EUR][1000 genomes]
rs74156005	1.00[EUR][1000 genomes]
rs74156006	1.00[EUR][1000 genomes]
rs74156007	1.00[EUR][1000 genomes]
rs74156008	1.00[EUR][1000 genomes]
rs74158943	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74158964	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873148	chr1:210665583-210994339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv522480	chr1:210779936-210848344	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
3	esv1825229	chr1:210789477-210854976	Enhancers ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210790400-210801800	Weak transcription	Pancreas	Pancrea
2	chr1:210790600-210807000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:210795000-210801400	Weak transcription	Aorta	Aorta
4	chr1:210795400-210822600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:210795800-210806600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:210796200-210801400	Weak transcription	Left Ventricle	heart
7	chr1:210796800-210799400	Weak transcription	Primary B cells from cord blood	blood
8	chr1:210797000-210801800	Weak transcription	Ovary	ovary
9	chr1:210797400-210799800	Enhancers	Brain Hippocampus Middle	brain
10	chr1:210797600-210799400	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:210797800-210799400	Enhancers	Brain Substantia Nigra	brain
12	chr1:210798200-210799800	Enhancers	Fetal Muscle Leg	muscle
13	chr1:210798600-210799600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:210798600-210806200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:210799000-210800400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:210799000-210804600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:210799000-210804600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:210799200-210799800	Genic enhancers	HSMMtube	muscle
19	chr1:210799200-210801600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:210799200-210805000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:210799200-210807000	Weak transcription	HSMM	muscle

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