Variant report

Variant	rs1497152
Chromosome Location	chr12:42190090-42190091
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10880150	1.00[CHD][hapmap]
rs11181152	1.00[ASN][1000 genomes]
rs11181154	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181155	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181156	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181157	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11181166	1.00[ASN][1000 genomes]
rs11181170	1.00[ASN][1000 genomes]
rs11181171	1.00[ASN][1000 genomes]
rs11181177	1.00[ASN][1000 genomes]
rs11181178	1.00[ASN][1000 genomes]
rs1497155	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979764	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73128118	1.00[ASN][1000 genomes]
rs73128126	1.00[ASN][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	nsv899043	chr12:42058138-42313665	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv899044	chr12:42058138-42321161	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1047870	chr12:42158954-42254373	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
4	nsv1041975	chr12:42159517-42254373	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases
5	nsv1037646	chr12:42160758-42254373	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
6	nsv1042971	chr12:42170661-42205843	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1497152	CNTN1	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42188000-42190400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:42188000-42190600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:42188200-42190200	Enhancers	Fetal Stomach	stomach
4	chr12:42188600-42192600	Enhancers	Brain Germinal Matrix	brain
5	chr12:42189200-42190200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:42189200-42190200	Enhancers	HUVEC	blood vessel
7	chr12:42189200-42196600	Weak transcription	Psoas Muscle	Psoas
8	chr12:42189400-42190200	Enhancers	Fetal Brain Female	brain
9	chr12:42190000-42190200	Enhancers	Aorta	Aorta
10	chr12:42190000-42196600	Weak transcription	Fetal Lung	lung

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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