Variant report

Variant	rs6730868
Chromosome Location	chr2:67562580-67562581
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs55678374	1.00[EUR][1000 genomes]
rs57865584	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6546295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6546305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6710320	1.00[EUR][1000 genomes]
rs6719346	1.00[EUR][1000 genomes]
rs6736634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72897783	1.00[EUR][1000 genomes]
rs72899940	1.00[EUR][1000 genomes]
rs73936705	1.00[EUR][1000 genomes]
rs7580904	1.00[EUR][1000 genomes]
rs7588812	1.00[EUR][1000 genomes]
rs7596742	0.82[AFR][1000 genomes]
rs7599464	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7606755	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr2:67551800-67565200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:67558400-67563800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:67558600-67565200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:67561600-67562600	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
5	chr2:67561600-67562600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
6	chr2:67561600-67562600	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
7	chr2:67561600-67562600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
8	chr2:67561600-67562800	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
9	chr2:67562000-67562800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:67562200-67563200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:67562200-67563400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr2:67562200-67563600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:67562400-67562600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:67562400-67562800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:67562400-67563600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:67562400-67564200	Weak transcription	ES-I3 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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