Variant report

Variant	rs849252
Chromosome Location	chr2:206211404-206211405
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10179357	0.83[AMR][1000 genomes]
rs1877344	0.83[AMR][1000 genomes]
rs1877345	0.83[AMR][1000 genomes]
rs2668147	0.88[AMR][1000 genomes]
rs2668152	0.83[AMR][1000 genomes]
rs2668153	0.88[AMR][1000 genomes]
rs6712196	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6751822	0.81[AMR][1000 genomes]
rs6751914	0.83[AMR][1000 genomes]
rs698911	0.83[AMR][1000 genomes]
rs849195	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs849203	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs849252	NDUFB3	cis	cerebellum	SCAN
rs849252	CRYGC	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206186800-206217400	Weak transcription	HSMM	muscle
2	chr2:206197600-206240600	Weak transcription	Aorta	Aorta
3	chr2:206208400-206212000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr2:206210200-206212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:206211200-206211600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:206211200-206211800	Enhancers	H9 Cell Line	embryonic stem cell
7	chr2:206211200-206213000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:206211200-206213000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:206211200-206213200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr2:206211200-206213200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:206211200-206213200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr2:206211400-206211600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:206211400-206211600	Enhancers	Colon Smooth Muscle	Colon
14	chr2:206211400-206212000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:206211400-206212800	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:206211400-206213000	Enhancers	HUES64 Cell Line	embryonic stem cell

Quick Search:

Input of quick search could be:

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

what's new

Quick links