Variant report

Variant	rs4944474
Chromosome Location	chr11:83949323-83949324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10128587	0.99[ASN][1000 genomes]
rs1022308	0.96[ASN][1000 genomes]
rs1040131	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10751109	0.82[ASN][1000 genomes]
rs10751112	1.00[ASN][1000 genomes]
rs10792740	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10792742	0.99[ASN][1000 genomes]
rs10792744	0.91[ASN][1000 genomes]
rs10792745	0.91[ASN][1000 genomes]
rs10792746	0.88[ASN][1000 genomes]
rs10898214	0.86[ASN][1000 genomes]
rs10898215	0.98[ASN][1000 genomes]
rs10898216	0.99[ASN][1000 genomes]
rs10898217	1.00[ASN][1000 genomes]
rs10898218	1.00[ASN][1000 genomes]
rs10898219	0.97[ASN][1000 genomes]
rs10898222	0.88[ASN][1000 genomes]
rs11233953	0.98[ASN][1000 genomes]
rs11233954	0.99[ASN][1000 genomes]
rs11233956	0.98[ASN][1000 genomes]
rs11233963	0.92[ASN][1000 genomes]
rs11233967	0.93[ASN][1000 genomes]
rs12278134	0.98[ASN][1000 genomes]
rs12281587	0.99[ASN][1000 genomes]
rs1399617	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1399618	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1454021	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454023	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1515084	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1515091	0.99[ASN][1000 genomes]
rs1515092	0.83[ASN][1000 genomes]
rs1515094	0.93[ASN][1000 genomes]
rs1849877	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869470	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1869471	0.99[ASN][1000 genomes]
rs1901973	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2374526	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4354715	0.97[ASN][1000 genomes]
rs4943889	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7103429	0.98[ASN][1000 genomes]
rs7106175	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7112322	0.83[ASN][1000 genomes]
rs7122248	0.86[ASN][1000 genomes]
rs7130225	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73519747	0.99[ASN][1000 genomes]
rs7483548	0.89[ASN][1000 genomes]
rs7925243	0.97[ASN][1000 genomes]
rs7933566	0.95[ASN][1000 genomes]
rs7937925	0.93[ASN][1000 genomes]
rs896996	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896997	0.92[ASN][1000 genomes]
rs896998	0.92[ASN][1000 genomes]
rs930790	0.99[ASN][1000 genomes]
rs963259	0.91[AMR][1000 genomes];0.96[ASN][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	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv415	chr11:83924941-83969603	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83945400-83961200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:83945800-83957400	Weak transcription	Brain Angular Gyrus	brain
3	chr11:83946000-83952000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:83946200-83952000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:83946200-83952800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:83946200-83953000	Weak transcription	Brain Hippocampus Middle	brain
7	chr11:83946400-83951800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:83946400-83952600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:83946600-83951800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:83946600-83952000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:83946600-83952400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:83947800-83951600	Weak transcription	Brain Substantia Nigra	brain
13	chr11:83949000-83952000	Weak transcription	Liver	Liver

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