Variant report

Variant	rs6435678
Chromosome Location	chr2:212710468-212710469
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12470608	0.85[CHB][hapmap];0.91[CHD][hapmap]
rs16846940	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16847003	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs16847102	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs16847131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[EUR][1000 genomes]
rs2371344	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62184493	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7600511	0.92[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[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	esv34128	chr2:212581485-212857122	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv875784	chr2:212639948-212761152	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875785	chr2:212683946-212752193	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv834525	chr2:212693190-212860356	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212707800-212712600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:212709400-212712400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:212709600-212710600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:212709600-212711800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:212710000-212710600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:212710000-212711000	Enhancers	Brain Germinal Matrix	brain
7	chr2:212710200-212710600	Enhancers	iPS-18 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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