Variant report

Variant	rs74140506
Chromosome Location	chr1:212994227-212994228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11801740	1.00[EUR][1000 genomes]
rs11807916	1.00[EUR][1000 genomes]
rs17019640	1.00[EUR][1000 genomes]
rs17019657	1.00[EUR][1000 genomes]
rs28505349	1.00[EUR][1000 genomes]
rs41296716	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41300963	1.00[EUR][1000 genomes]
rs55787749	1.00[EUR][1000 genomes]
rs55827218	1.00[EUR][1000 genomes]
rs60267007	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60334006	1.00[EUR][1000 genomes]
rs6675972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6685348	1.00[EUR][1000 genomes]
rs6700258	1.00[EUR][1000 genomes]
rs74138622	1.00[EUR][1000 genomes]
rs74138623	1.00[EUR][1000 genomes]
rs74138629	1.00[EUR][1000 genomes]
rs74138630	1.00[EUR][1000 genomes]
rs74138631	1.00[EUR][1000 genomes]
rs74138632	1.00[EUR][1000 genomes]
rs74138633	1.00[EUR][1000 genomes]
rs74138636	1.00[EUR][1000 genomes]
rs74138700	1.00[EUR][1000 genomes]
rs74140504	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74140512	1.00[EUR][1000 genomes]
rs74141106	1.00[EUR][1000 genomes]
rs7511916	1.00[EUR][1000 genomes]
rs7523527	1.00[EUR][1000 genomes]
rs7551969	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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
2	chr1:212975800-212997800	Weak transcription	Brain Substantia Nigra	brain
3	chr1:212976200-212998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:212988400-212998800	Weak transcription	Adipose Nuclei	Adipose
7	chr1:212988600-212998400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:212990400-212995600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:212990800-212998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:212991000-212998800	Weak transcription	Stomach Mucosa	stomach
11	chr1:212992400-212994600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:212992400-212994800	Enhancers	HepG2	liver
13	chr1:212993200-212995000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr1:212993400-212994400	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:212993600-212994600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:212994000-212994600	Flanking Active TSS	GM12878-XiMat	blood
17	chr1:212994000-212999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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