Variant report

Variant	rs11681930
Chromosome Location	chr2:206063298-206063299
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153620	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11898967	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11900263	0.84[AMR][1000 genomes]
rs12694021	0.80[ASN][1000 genomes]
rs13401325	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58915278	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7569010	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv16739	chr2:205898770-206127984	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	nsv1000779	chr2:205969138-206064554	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv1009424	chr2:205969138-206078240	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv525418	chr2:205969220-206077607	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
8	nsv875730	chr2:206057649-206093367	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Attention deficit hyperactivity disorder (combined symptoms)	23527680	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11681930	CCNYL1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206056600-206064200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:206058800-206081400	Weak transcription	Ovary	ovary
3	chr2:206060400-206064600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:206060600-206064000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:206061600-206064000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:206062000-206063400	Enhancers	NHDF-Ad	bronchial
7	chr2:206062000-206064600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:206062200-206063400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:206062200-206064000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr2:206062400-206063400	Enhancers	Osteobl	bone
11	chr2:206062600-206063400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:206062600-206063400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:206062600-206063400	Enhancers	Fetal Kidney	kidney
14	chr2:206062600-206063400	Flanking Active TSS	HUVEC	blood vessel
15	chr2:206062800-206064000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:206062800-206064800	Enhancers	K562	blood
17	chr2:206063000-206063400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:206063000-206063400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:206063000-206063400	Active TSS	HSMMtube	muscle
20	chr2:206063000-206063600	Enhancers	HSMM	muscle
21	chr2:206063000-206064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:206063000-206064600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:206063000-206065000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:206063200-206063400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:206063200-206063400	Enhancers	NH-A	brain
26	chr2:206063200-206065400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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