Variant report

Variant	rs10161705
Chromosome Location	chr13:111066010-111066011
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr13:111063393-111066220	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111064820..111066912-chr13:111364451..111367008,2	K562	blood:
2	chr13:111063956..111066256-chr13:111066546..111068934,2	K562	blood:

Variant related genes	Relation type
ENSG00000238629	TF binding region
ENSG00000238629	Chromatin interaction
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10851243	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12585289	0.81[ASN][1000 genomes]
rs12868443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1536622	0.86[CHB][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs61963219	0.93[ASN][1000 genomes]
rs6492270	1.00[MEX][hapmap]
rs9559794	0.86[MEX][hapmap]
rs9588155	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10161705	DAOA	cis	cerebellum	SCAN
rs10161705	PCID2	cis	parietal	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:111057800-111070400	Enhancers	Right Atrium	heart
3	chr13:111059400-111067000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr13:111060200-111067000	Enhancers	Right Ventricle	heart
5	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:111061600-111069200	Weak transcription	Fetal Brain Male	brain
8	chr13:111061800-111066200	Enhancers	NHLF	lung
9	chr13:111061800-111066800	Enhancers	Placenta	Placenta
10	chr13:111062000-111069000	Enhancers	Left Ventricle	heart
11	chr13:111062800-111068400	Weak transcription	Gastric	stomach
12	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr13:111064400-111068200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:111064400-111069800	Weak transcription	Small Intestine	intestine
16	chr13:111064600-111067400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:111064600-111068000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr13:111064800-111069800	Weak transcription	GM12878-XiMat	blood
19	chr13:111064800-111071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:111065000-111066200	Enhancers	A549	lung
21	chr13:111065000-111070400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr13:111065000-111071000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:111065000-111071400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr13:111065000-111077000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr13:111065000-111077400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr13:111065200-111066200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr13:111065200-111067200	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr13:111065200-111067200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr13:111065200-111067800	Weak transcription	HMEC	breast
30	chr13:111065200-111068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:111065200-111068200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr13:111065200-111068200	Weak transcription	Pancreas	Pancrea
33	chr13:111065200-111068400	Weak transcription	Brain Anterior Caudate	brain
34	chr13:111065200-111068600	Enhancers	Fetal Heart	heart
35	chr13:111065200-111068800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr13:111065200-111071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:111065200-111071600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr13:111065200-111077000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:111065200-111077400	Weak transcription	Fetal Kidney	kidney
40	chr13:111065200-111082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr13:111065400-111066400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr13:111065400-111067800	Weak transcription	NHEK	skin
43	chr13:111065400-111068000	Weak transcription	Psoas Muscle	Psoas
44	chr13:111065400-111068200	Weak transcription	Fetal Intestine Large	intestine
45	chr13:111065400-111068200	Genic enhancers	Stomach Smooth Muscle	stomach
46	chr13:111065400-111068400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:111065600-111066200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr13:111065600-111066200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:111065600-111067400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:111065600-111067600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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