Variant report

Variant	rs738181
Chromosome Location	chr22:32358588-32358589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	22:32188129-32210582..22:32357874-32358849	Hela-S3	cervix:
2	22:32211896-32215168..22:32357874-32358849	K562	blood:
3	22:32357874-32358849..22:33452523-33459358	Hela-S3	cervix:
4	22:32357874-32358849..22:32477762-32487457	Hela-S3	cervix:
5	22:31836635-31847259..22:32357874-32358849	Hela-S3	cervix:
6	22:32357874-32358849..22:32868055-32872511	K562	blood:
7	22:32292186-32294405..22:32357874-32358849	Hela-S3	cervix:
8	22:31978142-31983723..22:32357874-32358849	K562	blood:
9	22:32102727-32109893..22:32357874-32358849	Hela-S3	cervix:
10	22:32264718-32278135..22:32357874-32358849	Hela-S3	cervix:
11	22:32170492-32188129..22:32357874-32358849	Hela-S3	cervix:
12	22:31803954-31807204..22:32357874-32358849	Hela-S3	cervix:
13	22:32096851-32100847..22:32357874-32358849	Hela-S3	cervix:
14	22:32338420-32342898..22:32357874-32358849	Hela-S3	cervix:
15	22:31864703-31891033..22:32357874-32358849	Hela-S3	cervix:
16	22:32012966-32043914..22:32357874-32358849	Hela-S3	cervix:
17	22:32357874-32358849..22:32764253-32784733	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000100225	Chromatin interaction
ENSG00000236132	Chromatin interaction
ENSG00000198089	Chromatin interaction
ENSG00000183530	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000199248	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000184708	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000185666	Chromatin interaction
ENSG00000100170	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000230736	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1049583	0.88[CHB][hapmap]
rs12167016	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12168840	0.88[CHB][hapmap];1.00[LWK][hapmap]
rs130256	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs130257	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs130264	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs130405	1.00[CEU][hapmap]
rs13054053	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17683807	0.90[MEX][hapmap]
rs2246704	0.88[CHB][hapmap]
rs2301415	0.88[CHB][hapmap];1.00[LWK][hapmap]
rs2853884	1.00[CHB][hapmap]
rs2853887	1.00[CHB][hapmap]
rs2858750	0.88[CHB][hapmap];1.00[LWK][hapmap]
rs2858752	0.88[CHB][hapmap]
rs36065572	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3761432	0.93[CEU][hapmap]
rs3788440	0.93[CEU][hapmap]
rs3827334	0.93[CEU][hapmap]
rs4820059	0.88[CHB][hapmap]
rs4821026	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6518758	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7290696	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7291050	1.00[ASW][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7364274	1.00[LWK][hapmap]
rs8135356	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8141011	0.88[CHB][hapmap];1.00[LWK][hapmap]
rs8141732	0.89[MEX][hapmap]
rs933226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606887	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9606888	0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9606893	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9606907	0.87[CEU][hapmap];1.00[MEX][hapmap]
rs9606908	0.87[CEU][hapmap]
rs9609389	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[MKK][hapmap]
rs9609394	0.88[CHB][hapmap]
rs9609396	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9609409	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9609427	0.87[CEU][hapmap];0.90[MEX][hapmap]
rs9609429	0.90[MEX][hapmap]
rs9619244	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9621371	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];0.88[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9621386	0.87[CEU][hapmap];1.00[MEX][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	nsv1055450	chr22:32356150-32468832	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1055925	chr22:32358540-32450200	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1063876	chr22:32358540-32463271	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs738181	LIF	cis	cerebellum	SCAN
rs738181	TUG1	cis	cerebellum	SCAN
rs738181	CCDC117	cis	cerebellum	SCAN
rs738181	RFPL1	cis	cerebellum	SCAN

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32351200-32366000	Weak transcription	Stomach Mucosa	stomach
2	chr22:32351400-32366400	Weak transcription	Right Atrium	heart
3	chr22:32352600-32358600	Weak transcription	Fetal Heart	heart
4	chr22:32353000-32366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:32353000-32366000	Weak transcription	Esophagus	oesophagus
6	chr22:32353000-32366000	Weak transcription	Gastric	stomach
7	chr22:32353000-32366200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:32353200-32359400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr22:32353200-32360400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr22:32353200-32365800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr22:32353400-32366000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:32353400-32366400	Weak transcription	Psoas Muscle	Psoas
13	chr22:32353600-32365400	Weak transcription	GM12878-XiMat	blood
14	chr22:32353800-32359000	Weak transcription	Small Intestine	intestine
15	chr22:32353800-32365600	Weak transcription	NHEK	skin
16	chr22:32354000-32358600	Weak transcription	Fetal Kidney	kidney
17	chr22:32354000-32366200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr22:32354200-32365600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:32354200-32365800	Weak transcription	K562	blood
20	chr22:32354200-32366000	Weak transcription	Primary B cells from cord blood	blood
21	chr22:32354400-32358600	Weak transcription	Right Ventricle	heart
22	chr22:32354400-32358800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:32354400-32359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:32354400-32365800	Weak transcription	Brain Anterior Caudate	brain
25	chr22:32354400-32366400	Weak transcription	Colonic Mucosa	Colon
26	chr22:32354600-32358600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:32354600-32358600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr22:32354600-32358600	Weak transcription	Placenta	Placenta
29	chr22:32354600-32358800	Weak transcription	Ovary	ovary
30	chr22:32354600-32359800	Weak transcription	Lung	lung
31	chr22:32354600-32360200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr22:32354600-32363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:32354600-32365800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:32354600-32366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:32354600-32366000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr22:32354600-32366000	Weak transcription	Fetal Lung	lung
37	chr22:32354600-32366200	Weak transcription	Liver	Liver
38	chr22:32354600-32366200	Weak transcription	Brain Angular Gyrus	brain
39	chr22:32354600-32366400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr22:32354600-32366400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr22:32354600-32366400	Weak transcription	NHLF	lung
42	chr22:32354800-32359800	Weak transcription	Fetal Brain Male	brain
43	chr22:32354800-32365800	Weak transcription	Brain Hippocampus Middle	brain
44	chr22:32354800-32365800	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr22:32354800-32365800	Weak transcription	HMEC	breast
46	chr22:32354800-32366000	Weak transcription	Brain Germinal Matrix	brain
47	chr22:32354800-32366000	Weak transcription	Osteobl	bone
48	chr22:32354800-32366400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr22:32354800-32366400	Weak transcription	HSMM	muscle
50	chr22:32355000-32358600	Weak transcription	Primary B cells from peripheral blood	blood

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