Variant report

Variant	rs12912193
Chromosome Location	chr15:59892322-59892323
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	chr15:59891996..59893878-chr15:59903015..59905190,2	K562	blood:
2	chr15:59891038..59893878-chr15:59903015..59906504,3	K562	blood:

Variant related genes	Relation type
ENSG00000140297	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11637648	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11852787	0.89[ASN][1000 genomes]
rs11853816	0.83[ASN][1000 genomes]
rs11854666	0.81[CHB][hapmap];0.89[JPT][hapmap];0.90[MKK][hapmap]
rs11855878	0.89[ASN][1000 genomes]
rs11855980	0.89[ASN][1000 genomes]
rs11857723	0.86[ASN][1000 genomes]
rs11857791	0.86[ASN][1000 genomes]
rs12592074	0.86[ASN][1000 genomes]
rs12900904	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12911584	0.86[ASN][1000 genomes]
rs12913690	0.93[ASN][1000 genomes]
rs28449994	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28809555	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28855400	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55667567	0.82[ASN][1000 genomes]
rs56097539	0.84[ASN][1000 genomes]
rs56407530	0.84[ASN][1000 genomes]
rs6494120	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6494121	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs7168490	0.85[ASN][1000 genomes]
rs8025532	0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs8026362	0.86[ASN][1000 genomes]
rs8026447	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8027090	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs8034822	0.86[ASN][1000 genomes]
rs8037984	0.89[ASN][1000 genomes]
rs8038647	0.89[ASN][1000 genomes]
rs8038992	0.89[ASN][1000 genomes]
rs8039486	0.83[ASN][1000 genomes]
rs8040576	0.84[ASN][1000 genomes]
rs8041969	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9920429	0.82[ASN][1000 genomes]
rs9920499	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv569605	chr15:59855226-59956553	Strong transcription Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv533240	chr15:59858093-59998176	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv569606	chr15:59883809-59894636	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
7	esv19505	chr15:59888194-59904649	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12912193	ADAM10	cis	cerebellum	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59886800-59892800	Enhancers	Fetal Intestine Large	intestine
2	chr15:59889400-59893600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr15:59890400-59892600	Enhancers	Fetal Intestine Small	intestine
4	chr15:59891600-59892400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr15:59891600-59892400	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr15:59891800-59892400	Enhancers	Ovary	ovary
7	chr15:59892200-59892600	Enhancers	HepG2	liver

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