Variant report

Variant	rs2499697
Chromosome Location	chr6:34044918-34044919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1565361	0.82[MEX][hapmap]
rs1906954	0.85[ASN][1000 genomes]
rs2451348	0.86[EUR][1000 genomes]
rs2451351	0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs2451357	0.82[MEX][hapmap]
rs2499705	0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2499706	0.82[EUR][1000 genomes]
rs2499707	0.90[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2499711	0.90[GIH][hapmap];0.87[JPT][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2499713	0.90[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv462900	chr6:33932442-34195011	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv602843	chr6:33932442-34195011	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv462901	chr6:33953646-34050917	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv602861	chr6:33953646-34050917	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv432881	chr6:34026522-34213822	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34025000-34101800	Weak transcription	Right Atrium	heart
2	chr6:34027400-34066400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:34041800-34046400	Weak transcription	Fetal Brain Female	brain
4	chr6:34041800-34047600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:34042200-34045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:34044400-34045200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr6:34044400-34045400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr6:34044400-34047200	Enhancers	H1 Cell Line	embryonic stem cell
9	chr6:34044600-34045000	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:34044600-34045200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr6:34044600-34046000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:34044800-34045000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr6:34044800-34045000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:34044800-34045800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:34044800-34046400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:34044800-34052200	Weak transcription	H1 Derived Neuronal Progenitor 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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