Variant report

Variant	rs2499748
Chromosome Location	chr6:33918271-33918272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10947469	0.88[AFR][1000 genomes]
rs2495961	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2495962	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2495968	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2499733	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2499734	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2499738	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2499741	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2499742	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2499746	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2499747	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2499749	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2499751	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2499752	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2499754	0.90[ASN][1000 genomes]
rs7765294	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7772005	0.82[AFR][1000 genomes]
rs9296104	0.95[AFR][1000 genomes]
rs9461934	0.94[AFR][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	nsv916210	chr6:33804111-34144062	Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
2	nsv462899	chr6:33880480-33944014	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv602841	chr6:33880480-33944014	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	5 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	chr6:33912600-33918800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:33915400-33918400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:33917800-33919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:33917800-33919600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:33917800-33919600	Enhancers	Fetal Intestine Small	intestine
6	chr6:33917800-33920000	Enhancers	Fetal Intestine Large	intestine
7	chr6:33918000-33918800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:33918000-33919000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr6:33918000-33919200	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:33918000-33919200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr6:33918000-33919400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:33918200-33918600	Enhancers	Brain Anterior Caudate	brain
13	chr6:33918200-33918800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr6:33918200-33919000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:33918200-33919400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr6:33918200-33919400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:33918200-33919600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr6:33918200-33919600	Enhancers	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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