Variant report

Variant	rs1011663
Chromosome Location	chr1:93461692-93461693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93426099..93427961-chr1:93460887..93462805,2	K562	blood:
2	chr1:93460612..93462727-chr1:93470138..93471649,2	K562	blood:
3	chr1:93307013..93308611-chr1:93460458..93462751,2	K562	blood:
4	chr1:93459371..93463416-chr1:93464297..93466371,4	K562	blood:

Variant related genes	Relation type
ENSG00000154511	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10747454	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10874752	0.81[JPT][hapmap]
rs11164838	0.81[JPT][hapmap]
rs11164850	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11164851	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11164854	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12049007	1.00[ASN][1000 genomes]
rs12120036	1.00[ASN][1000 genomes]
rs12130044	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12133990	0.85[ASN][1000 genomes]
rs12144226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1678784	0.93[ASN][1000 genomes]
rs2086314	1.00[ASN][1000 genomes]
rs2127398	1.00[ASN][1000 genomes]
rs2127400	1.00[ASN][1000 genomes]
rs28561471	0.88[ASN][1000 genomes]
rs3943283	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4515797	0.90[ASN][1000 genomes]
rs475009	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs4847226	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4847386	0.81[JPT][hapmap]
rs4847389	0.84[ASN][1000 genomes]
rs514235	0.87[CHB][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs521428	0.87[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs534409	0.91[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs557095	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs567613	0.87[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs594527	0.93[ASN][1000 genomes]
rs606344	0.93[ASN][1000 genomes]
rs619784	0.93[ASN][1000 genomes]
rs641462	0.85[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs660870	0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs663112	0.98[ASN][1000 genomes]
rs6671268	0.87[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap];0.81[ASN][1000 genomes]
rs6681429	0.81[ASN][1000 genomes]
rs7517539	0.93[CHB][hapmap];0.92[CHD][hapmap];0.94[GIH][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs7524934	1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs753391	0.92[ASN][1000 genomes]
rs770883	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs945630	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1011663	CCDC18	cis	cerebellum	SCAN
rs1011663	FAM69A	cis	Thyroid	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93451800-93466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:93459200-93462000	Enhancers	Fetal Intestine Large	intestine
3	chr1:93459200-93462200	Enhancers	Fetal Intestine Small	intestine
4	chr1:93459800-93466000	Weak transcription	Brain Anterior Caudate	brain
5	chr1:93459800-93466000	Weak transcription	GM12878-XiMat	blood
6	chr1:93460800-93461800	Enhancers	HepG2	liver
7	chr1:93460800-93461800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:93460800-93462000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
9	chr1:93461000-93461800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:93461000-93461800	Enhancers	Pancreas	Pancrea
11	chr1:93461000-93462000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:93461200-93462200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:93461400-93461800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr1:93461400-93461800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr1:93461600-93461800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr1:93461600-93462000	Enhancers	Colonic Mucosa	Colon
17	chr1:93461600-93462200	Enhancers	Stomach Mucosa	stomach

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