Variant report

Variant	rs60280067
Chromosome Location	chr11:119808789-119808790
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:119802732..119804504-chr11:119807076..119809462,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTD-2523D13.1.1-5	chr11:119808789-119808868	XLOC_009302
2	lnc-CTD-2523D13.1.1-5	chr11:119808788-119808868	NONHSAT024693

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1108315	1.00[EUR][1000 genomes]
rs11217596	1.00[EUR][1000 genomes]
rs11217597	1.00[EUR][1000 genomes]
rs11217604	1.00[EUR][1000 genomes]
rs11217606	1.00[EUR][1000 genomes]
rs11217607	1.00[EUR][1000 genomes]
rs11217611	1.00[EUR][1000 genomes]
rs11217614	1.00[EUR][1000 genomes]
rs11217615	1.00[EUR][1000 genomes]
rs11217619	1.00[EUR][1000 genomes]
rs11217624	1.00[EUR][1000 genomes]
rs11217626	1.00[EUR][1000 genomes]
rs11217628	1.00[EUR][1000 genomes]
rs12224282	1.00[EUR][1000 genomes]
rs12573850	1.00[EUR][1000 genomes]
rs12574341	1.00[EUR][1000 genomes]
rs12574743	1.00[EUR][1000 genomes]
rs12575504	1.00[EUR][1000 genomes]
rs12576429	1.00[EUR][1000 genomes]
rs12576741	1.00[EUR][1000 genomes]
rs17123510	1.00[EUR][1000 genomes]
rs36015387	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56683142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58861512	1.00[EUR][1000 genomes]
rs61899023	0.99[ASN][1000 genomes]
rs72645471	1.00[EUR][1000 genomes]
rs72645472	1.00[EUR][1000 genomes]
rs72645473	1.00[EUR][1000 genomes]
rs72645474	1.00[EUR][1000 genomes]
rs72645475	1.00[EUR][1000 genomes]
rs72645476	1.00[EUR][1000 genomes]
rs72645477	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048084	chr11:119771748-119808864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1049086	chr11:119782056-119808864	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv832285	chr11:119789595-119957724	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3348842	chr11:119808427-119809271	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119803000-119809000	Enhancers	Fetal Muscle Leg	muscle
2	chr11:119805400-119809200	Enhancers	Brain Hippocampus Middle	brain
3	chr11:119805600-119809000	Enhancers	Brain Angular Gyrus	brain
4	chr11:119805600-119809800	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:119805800-119809000	Enhancers	Brain Substantia Nigra	brain
6	chr11:119806600-119809400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:119807200-119809600	Weak transcription	Fetal Heart	heart
8	chr11:119807400-119809200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:119807400-119812000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:119807600-119808800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:119808400-119809800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:119808600-119809000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr11:119808600-119809000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr11:119808600-119809400	Weak transcription	H1 Cell Line	embryonic stem cell

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