Variant report

Variant	rs12705530
Chromosome Location	chr7:78157878-78157879
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10953601	1.00[ASW][hapmap];0.80[MEX][hapmap]
rs12705545	1.00[ASW][hapmap];0.87[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467124	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62468560	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62468561	0.80[EUR][1000 genomes]
rs62468564	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468567	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62468572	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62468574	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62468575	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62468576	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62468580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62468584	1.00[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	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1022199	chr7:78054639-78469370	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv538986	chr7:78054639-78469370	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr7:78128800-78158400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:78138400-78161800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:78144200-78160000	Weak transcription	Brain Hippocampus Middle	brain
4	chr7:78144400-78158200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:78144400-78158600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:78151600-78158400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:78153400-78159600	Weak transcription	Brain Angular Gyrus	brain
8	chr7:78153800-78158000	Weak transcription	Osteobl	bone
9	chr7:78155800-78159400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:78156400-78160000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr7:78156800-78160400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:78157000-78158000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr7:78157000-78172000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:78157400-78158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:78157400-78159000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:78157400-78159800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:78157600-78159000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:78157600-78160400	Enhancers	HUES48 Cell Line	embryonic stem cell

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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