Variant report

Variant	rs683266
Chromosome Location	chr11:107571850-107571851
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:107568027..107570324-chr11:107571232..107574133,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10789636	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10890754	0.87[EUR][1000 genomes]
rs10890755	0.87[EUR][1000 genomes]
rs11212331	0.87[EUR][1000 genomes]
rs11212332	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12223802	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038368	chr11:107116577-107664181	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541163	chr11:107116577-107664181	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv533794	chr11:107349817-108093259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1039425	chr11:107468681-107895836	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv427899	chr11:107471544-107805894	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv1052198	chr11:107509918-107684371	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv1049524	chr11:107540937-107954011	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1045492	chr11:107549167-107622778	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv1043521	chr11:107559333-107628875	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	nsv1038581	chr11:107564274-107838386	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
11	esv2750979	chr11:107566557-107624198	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs683266	SLN	cis	parietal	SCAN
rs683266	CUL5	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:107567800-107573000	Weak transcription	A549	lung
2	chr11:107567800-107573000	Weak transcription	NHDF-Ad	bronchial
3	chr11:107568000-107573200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:107568000-107574800	Weak transcription	NH-A	brain
5	chr11:107568000-107575000	Weak transcription	HSMM	muscle
6	chr11:107568200-107572800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:107568400-107573000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:107568600-107573000	Weak transcription	HSMMtube	muscle
9	chr11:107569800-107572200	Enhancers	Fetal Brain Male	brain
10	chr11:107570200-107572000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:107570400-107572000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr11:107570400-107572000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr11:107570600-107575200	Weak transcription	Right Atrium	heart
14	chr11:107570800-107573000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:107571000-107573000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:107571000-107574400	Weak transcription	Psoas Muscle	Psoas
17	chr11:107571200-107575000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:107571600-107572000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr11:107571600-107572000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:107571600-107572000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:107571600-107572200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr11:107571600-107575400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:107571800-107572000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:107571800-107572000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:107571800-107580200	Weak transcription	Fetal Brain Female	brain

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