Variant report

Variant	rs11050618
Chromosome Location	chr12:30199516-30199517
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11050616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11050617	0.89[ASN][1000 genomes]
rs11050627	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11050629	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11050631	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11050632	0.87[EUR][1000 genomes]
rs11532273	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11559800	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11561211	0.87[EUR][1000 genomes]
rs12229030	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16935329	0.87[EUR][1000 genomes]
rs2173393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930878	0.87[EUR][1000 genomes]
rs4930880	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs58982576	1.00[AFR][1000 genomes]
rs7967351	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv826295	chr12:30130336-30207775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30196400-30200600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30196600-30200400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:30196800-30200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:30196800-30200400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:30196800-30200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:30196800-30200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr12:30196800-30200600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:30197400-30200600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:30197400-30200600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:30198600-30200200	Enhancers	HUVEC	blood vessel
11	chr12:30198600-30200400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:30198600-30200400	Enhancers	Osteobl	bone
13	chr12:30198600-30200600	Enhancers	NH-A	brain
14	chr12:30199400-30199800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	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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