Variant report

Variant	rs2267163
Chromosome Location	chr22:31011557-31011558
allele	C/T
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	MAFK	chr22:31011490-31012137	H1-hESC	embryonic stem cell:	n/a	chr22:31011860-31011876 chr22:31011864-31011878 chr22:31011865-31011875 chr22:31011861-31011881 chr22:31011865-31011874 chr22:31011860-31011875 chr22:31011868-31011877 chr22:31011866-31011882 chr22:31011863-31011879
2	MAFK	chr22:31011514-31012201	GM12878	blood:	n/a	chr22:31011860-31011876 chr22:31011864-31011878 chr22:31011865-31011875 chr22:31011861-31011881 chr22:31011865-31011874 chr22:31011860-31011875 chr22:31011868-31011877 chr22:31011866-31011882 chr22:31011863-31011879
3	SPI1	chr22:31011328-31011722	HL-60	blood:	n/a	chr22:31011556-31011563

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31001608..31004689-chr22:31008894..31012791,3	K562	blood:

Variant related genes	Relation type
TCN2	TF binding region
ENSG00000100029	Chromatin interaction
ENSG00000185339	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10439913	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1076301	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1801198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1981591	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs2009862	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2072194	0.82[ASN][1000 genomes]
rs2240002	0.83[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap]
rs2267164	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2270013	0.87[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs2301956	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3179442	0.85[CEU][hapmap];0.85[TSI][hapmap]
rs3887855	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820023	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820885	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4820891	0.87[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs5019308	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5749141	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5749144	0.81[AMR][1000 genomes]
rs5753228	0.80[AMR][1000 genomes]
rs5753236	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753250	0.81[ASN][1000 genomes]
rs5753252	0.81[ASN][1000 genomes]
rs5753257	0.80[TSI][hapmap]
rs5753259	0.82[JPT][hapmap]
rs5994328	0.87[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs5997704	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997711	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs713853	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs757027	0.81[JPT][hapmap]
rs8139950	0.87[CHB][hapmap];0.93[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]

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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2267163	MTMR3	cis	parietal	SCAN
rs2267163	CRYBB3	cis	parietal	SCAN
rs2267163	PES1	cis	parietal	SCAN
rs2267163	MORC2	cis	cerebellum	SCAN

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31003200-31031200	Weak transcription	Aorta	Aorta
2	chr22:31003800-31030600	Weak transcription	Thymus	Thymus
3	chr22:31004200-31013400	Weak transcription	Pancreas	Pancrea
4	chr22:31004400-31020200	Weak transcription	Fetal Kidney	kidney
5	chr22:31005000-31022200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr22:31005600-31012200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr22:31006000-31019200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:31006000-31020800	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr22:31006000-31023200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:31006000-31023200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr22:31006000-31030400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr22:31006000-31030600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr22:31006000-31030600	Weak transcription	Colonic Mucosa	Colon
14	chr22:31006200-31017400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr22:31006200-31017400	Strong transcription	Fetal Stomach	stomach
16	chr22:31006200-31019400	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr22:31006200-31023800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr22:31006200-31030600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr22:31006400-31013600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:31006400-31015000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:31006400-31017000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:31006400-31023000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:31006400-31023200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr22:31006400-31023400	Strong transcription	Fetal Intestine Small	intestine
25	chr22:31006600-31017000	Strong transcription	Brain Germinal Matrix	brain
26	chr22:31006600-31020000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr22:31006600-31030400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr22:31006800-31030200	Weak transcription	Placenta	Placenta
29	chr22:31007000-31012200	Strong transcription	Fetal Intestine Large	intestine
30	chr22:31007000-31017200	Strong transcription	Liver	Liver
31	chr22:31007000-31030600	Weak transcription	Fetal Brain Male	brain
32	chr22:31007200-31019200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr22:31007600-31030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr22:31007800-31011800	Strong transcription	Lung	lung
35	chr22:31008000-31030400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:31008400-31023200	Strong transcription	Adipose Nuclei	Adipose
37	chr22:31008600-31011800	Strong transcription	Left Ventricle	heart
38	chr22:31008600-31012000	Strong transcription	Fetal Brain Female	brain
39	chr22:31008600-31012200	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:31008600-31014000	Strong transcription	Brain Substantia Nigra	brain
41	chr22:31008800-31011800	Strong transcription	Right Ventricle	heart
42	chr22:31008800-31012000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr22:31008800-31012000	Strong transcription	Brain Hippocampus Middle	brain
44	chr22:31008800-31013800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:31008800-31019000	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:31009000-31012200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:31009200-31011600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr22:31009600-31012000	Strong transcription	Brain Angular Gyrus	brain
49	chr22:31009600-31017000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr22:31009800-31011800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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