Variant report

Variant	rs2562571
Chromosome Location	chr5:36597841-36597842
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10941305	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv881025	chr5:36575021-36613053	Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
3	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2562571	ADAMTS12	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36591200-36606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:36591800-36598000	Weak transcription	Brain Substantia Nigra	brain
3	chr5:36592600-36598000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr5:36596200-36598400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr5:36597000-36600400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr5:36597000-36603000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:36597000-36605600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:36597000-36606200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:36597200-36598000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:36597200-36600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:36597200-36600400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr5:36597200-36601000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:36597200-36605200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr5:36597600-36598000	Enhancers	Fetal Kidney	kidney
15	chr5:36597600-36598000	Enhancers	Fetal Muscle Trunk	muscle
16	chr5:36597600-36598200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr5:36597800-36598000	Active TSS	Brain Cingulate Gyrus	brain
18	chr5:36597800-36598000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:36597800-36598200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr5:36597800-36598200	Enhancers	Fetal Lung	lung
21	chr5:36597800-36598400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:36597800-36598400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr5:36597800-36598400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr5:36597800-36598400	Enhancers	Fetal Muscle Leg	muscle
25	chr5:36597800-36598600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:36597800-36598800	Enhancers	Brain Angular Gyrus	brain
27	chr5:36597800-36600000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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