Variant report

Variant	rs17138511
Chromosome Location	chr10:16426315-16426316
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:16425069..16427084-chr10:16526700..16529577,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10795388	0.93[ASN][1000 genomes]
rs10795389	0.93[ASN][1000 genomes]
rs10795390	0.90[ASN][1000 genomes]
rs10904721	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11253933	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11253941	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11253942	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11253944	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11253946	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11253950	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11253951	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11253952	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11253953	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11253954	0.94[ASN][1000 genomes]
rs11253955	0.94[ASN][1000 genomes]
rs11253956	0.93[ASN][1000 genomes]
rs11253957	0.93[ASN][1000 genomes]
rs11253958	0.93[ASN][1000 genomes]
rs11253959	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11253960	0.93[ASN][1000 genomes]
rs12218570	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12570048	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12783760	0.94[ASN][1000 genomes]
rs1342333	0.92[ASN][1000 genomes]
rs1342334	0.92[ASN][1000 genomes]
rs1342335	0.92[ASN][1000 genomes]
rs17138484	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17138492	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2355639	0.87[ASN][1000 genomes]
rs4747273	0.93[ASN][1000 genomes]
rs4748293	0.92[ASN][1000 genomes]
rs56278988	0.91[ASN][1000 genomes]
rs61372392	0.80[ASN][1000 genomes]
rs6602101	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7077231	0.91[ASN][1000 genomes]
rs7082220	0.96[ASN][1000 genomes]
rs7082688	0.93[ASN][1000 genomes]
rs7094646	0.92[ASN][1000 genomes]
rs7095333	0.91[ASN][1000 genomes]
rs7099690	0.96[ASN][1000 genomes]
rs72770421	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72770425	0.93[ASN][1000 genomes]
rs72770445	0.96[EUR][1000 genomes]
rs753537	0.91[ASN][1000 genomes]
rs7909328	0.86[EUR][1000 genomes]
rs902069	0.81[ASN][1000 genomes]
rs902070	0.81[ASN][1000 genomes]
rs902071	0.82[ASN][1000 genomes]
rs902072	0.81[ASN][1000 genomes]
rs988459	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530146	chr10:15722937-16522747	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv870420	chr10:16225427-16541252	Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv894904	chr10:16233175-16477106	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv894905	chr10:16410436-16483081	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv2762848	chr10:16420474-16436516	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17138511	CAMK1D	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16403400-16428600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:16409800-16428800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr10:16423200-16427000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr10:16425800-16426400	Enhancers	Fetal Brain Female	brain
5	chr10:16425800-16426400	Enhancers	Fetal Muscle Leg	muscle
6	chr10:16426000-16426400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:16426000-16426400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr10:16426000-16427600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr10:16426200-16426400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:16426200-16426400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr10:16426200-16426600	Bivalent Enhancer	Brain Cingulate Gyrus	brain
12	chr10:16426200-16426600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:16426200-16427200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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