Variant report

Variant	rs6448530
Chromosome Location	chr4:27703900-27703901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs1031311	0.81[EUR][1000 genomes]
rs1375770	0.80[EUR][1000 genomes]
rs1375773	0.80[EUR][1000 genomes]
rs1449765	0.81[EUR][1000 genomes]
rs1449767	0.81[EUR][1000 genomes]
rs1449768	0.81[EUR][1000 genomes]
rs1542912	0.80[EUR][1000 genomes]
rs1961033	0.81[EUR][1000 genomes]
rs35972286	0.81[EUR][1000 genomes]
rs6448531	0.92[EUR][1000 genomes]
rs719713	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013877	chr4:27539626-28051576	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv878770	chr4:27680483-27844411	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1012113	chr4:27694978-27819838	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv537057	chr4:27694978-27819838	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:27702800-27704600	Enhancers	Liver	Liver
2	chr4:27702800-27704600	Enhancers	Colon Smooth Muscle	Colon
3	chr4:27702800-27705200	Enhancers	Brain Germinal Matrix	brain
4	chr4:27703200-27704800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr4:27703400-27704000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr4:27703400-27704400	Weak transcription	Fetal Lung	lung
7	chr4:27703400-27704800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:27703400-27705000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:27703600-27704600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:27703600-27704800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr4:27703800-27704200	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr4:27703800-27704800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr4:27703800-27704800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr4:27703800-27704800	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr4:27703800-27705000	Enhancers	HUES64 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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