Variant report

Variant	rs2496430
Chromosome Location	chr13:39275451-39275452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11147723	0.85[AMR][1000 genomes]
rs11147724	0.85[AMR][1000 genomes]
rs11147725	0.85[AMR][1000 genomes]
rs2496433	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55860060	0.85[AMR][1000 genomes]
rs55880170	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55922882	0.85[AMR][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	nsv832584	chr13:39074265-39284724	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv832585	chr13:39233307-39424375	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39264200-39276800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:39264400-39275800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:39265800-39287200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:39268000-39284600	Weak transcription	Fetal Kidney	kidney
5	chr13:39268200-39276800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr13:39268200-39282400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:39271600-39276800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:39272000-39276800	Weak transcription	Psoas Muscle	Psoas
9	chr13:39272400-39276800	Weak transcription	Fetal Muscle Leg	muscle
10	chr13:39272600-39276400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:39272600-39276600	Weak transcription	Fetal Heart	heart
12	chr13:39274200-39275600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr13:39274200-39277400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr13:39274600-39275800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:39275400-39276000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr13:39275400-39276000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr13:39275400-39276400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:39275400-39276800	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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