Variant report

Variant	rs3826562
Chromosome Location	chr18:9562792-9562793
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9556869..9560926-chr18:9561535..9563194,3	K562	blood:
2	chr18:9550057..9552721-chr18:9560835..9563453,2	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10451359	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11081484	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11874827	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12458145	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13381718	0.98[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2306134	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28366801	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28838295	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28879133	0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs328994	0.85[JPT][hapmap]
rs3898762	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56817979	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57356844	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58359806	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60220573	0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7231313	0.95[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7233002	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7239271	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7239728	0.82[CHB][hapmap]
rs745218	0.83[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs8085047	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9304040	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9945701	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946235	0.99[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9946612	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9948831	0.84[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]
rs9949507	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9951382	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9961558	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9965762	0.83[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap]

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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9544000-9570200	Strong transcription	Fetal Intestine Large	intestine
2	chr18:9544000-9575600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:9544200-9563600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:9544600-9563600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr18:9544600-9563600	Strong transcription	Brain Cingulate Gyrus	brain
6	chr18:9544600-9564200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:9544600-9564200	Strong transcription	Placenta	Placenta
8	chr18:9544800-9564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:9544800-9565000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr18:9544800-9572200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr18:9544800-9572400	Strong transcription	Primary T cells from cord blood	blood
12	chr18:9545000-9563800	Strong transcription	Osteobl	bone
13	chr18:9545000-9564200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:9545000-9564200	Strong transcription	Adipose Nuclei	Adipose
15	chr18:9545000-9564400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:9545200-9563400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr18:9545200-9572600	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr18:9545400-9564000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9545800-9563600	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr18:9545800-9564200	Strong transcription	Fetal Thymus	thymus
21	chr18:9545800-9565000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr18:9545800-9570200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr18:9545800-9583600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr18:9545800-9595200	Strong transcription	Dnd41	blood
25	chr18:9546000-9563800	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr18:9546200-9564200	Strong transcription	Left Ventricle	heart
27	chr18:9546400-9563600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr18:9547000-9564000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr18:9549600-9581800	Weak transcription	Psoas Muscle	Psoas
30	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr18:9552200-9565800	Strong transcription	HSMM	muscle
32	chr18:9552200-9565800	Strong transcription	NH-A	brain
33	chr18:9552400-9564200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:9553000-9563600	Strong transcription	Fetal Lung	lung
35	chr18:9553000-9572400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr18:9553000-9573000	Strong transcription	Fetal Muscle Leg	muscle
37	chr18:9553000-9573600	Strong transcription	NHDF-Ad	bronchial
38	chr18:9553200-9564400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr18:9553200-9572600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr18:9553200-9575800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr18:9553400-9563600	Strong transcription	Fetal Intestine Small	intestine
42	chr18:9553400-9565200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr18:9553600-9563600	Strong transcription	Fetal Stomach	stomach
44	chr18:9553800-9563800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr18:9553800-9564800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr18:9553800-9565400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr18:9553800-9566000	Strong transcription	Primary B cells from cord blood	blood
48	chr18:9553800-9566000	Strong transcription	Fetal Brain Female	brain
49	chr18:9553800-9572800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr18:9553800-9573000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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