Variant report

Variant	rs2499754
Chromosome Location	chr6:33926669-33926670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2495961	0.91[ASN][1000 genomes]
rs2495962	0.91[ASN][1000 genomes]
rs2495968	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2499734	0.86[ASN][1000 genomes]
rs2499738	0.83[ASN][1000 genomes]
rs2499741	0.88[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2499742	0.82[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2499746	0.91[ASN][1000 genomes]
rs2499747	0.90[ASN][1000 genomes]
rs2499748	0.90[ASN][1000 genomes]
rs2499749	0.80[EUR][1000 genomes]
rs2499751	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2499752	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][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	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
4	nsv5252	chr6:33919447-33955380	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33924600-33927800	Enhancers	Fetal Brain Female	brain
2	chr6:33924800-33930000	Enhancers	Fetal Brain Male	brain
3	chr6:33925200-33927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:33925200-33928600	Enhancers	Brain Germinal Matrix	brain
5	chr6:33925400-33926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr6:33925400-33926800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:33925400-33926800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr6:33925400-33927000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:33925400-33927200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:33925800-33926800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:33926000-33926800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:33926000-33931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:33926000-33931600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:33926200-33926800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr6:33926200-33927000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:33926200-33930000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:33926400-33927600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:33926400-33931000	Enhancers	NHEK	skin
19	chr6:33926600-33927000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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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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