Variant report

Variant	rs5994459
Chromosome Location	chr22:32360202-32360203
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11089531	1.00[CHB][hapmap]
rs11912760	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16987446	1.00[CEU][hapmap]
rs16989540	1.00[CHB][hapmap]
rs16989600	1.00[CHB][hapmap]
rs16989711	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs2051583	1.00[CHB][hapmap]
rs28433835	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58948856	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994436	1.00[CHB][hapmap]
rs5994463	0.84[MKK][hapmap]
rs5998144	1.00[CHB][hapmap]
rs5998161	1.00[CHB][hapmap]
rs5998197	1.00[ASN][1000 genomes]
rs5998221	0.83[MKK][hapmap]
rs5998225	0.84[MKK][hapmap]
rs62240589	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240590	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240611	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240612	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240614	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62240615	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289702	1.00[CHB][hapmap]
rs7291826	0.84[MKK][hapmap]
rs8140700	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv1061546	chr22:32358991-32464350	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 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	chr22:32353000-32366000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:32353000-32366000	Weak transcription	Esophagus	oesophagus
5	chr22:32353000-32366000	Weak transcription	Gastric	stomach
6	chr22:32353000-32366200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:32353200-32360400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:32353200-32365800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr22:32353400-32366000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:32353400-32366400	Weak transcription	Psoas Muscle	Psoas
11	chr22:32353600-32365400	Weak transcription	GM12878-XiMat	blood
12	chr22:32353800-32365600	Weak transcription	NHEK	skin
13	chr22:32354000-32366200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:32354200-32365600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:32354200-32365800	Weak transcription	K562	blood
16	chr22:32354200-32366000	Weak transcription	Primary B cells from cord blood	blood
17	chr22:32354400-32365800	Weak transcription	Brain Anterior Caudate	brain
18	chr22:32354400-32366400	Weak transcription	Colonic Mucosa	Colon
19	chr22:32354600-32363400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:32354600-32365800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:32354600-32366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:32354600-32366000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr22:32354600-32366000	Weak transcription	Fetal Lung	lung
24	chr22:32354600-32366200	Weak transcription	Liver	Liver
25	chr22:32354600-32366200	Weak transcription	Brain Angular Gyrus	brain
26	chr22:32354600-32366400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:32354600-32366400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr22:32354600-32366400	Weak transcription	NHLF	lung
29	chr22:32354800-32365800	Weak transcription	Brain Hippocampus Middle	brain
30	chr22:32354800-32365800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr22:32354800-32365800	Weak transcription	HMEC	breast
32	chr22:32354800-32366000	Weak transcription	Brain Germinal Matrix	brain
33	chr22:32354800-32366000	Weak transcription	Osteobl	bone
34	chr22:32354800-32366400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:32354800-32366400	Weak transcription	HSMM	muscle
36	chr22:32355000-32360400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr22:32355000-32365600	Weak transcription	Fetal Thymus	thymus
38	chr22:32355000-32365800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:32355000-32365800	Weak transcription	Fetal Intestine Large	intestine
40	chr22:32355000-32366000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:32355000-32366000	Weak transcription	Thymus	Thymus
42	chr22:32355000-32366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:32355000-32366200	Weak transcription	NH-A	brain
44	chr22:32355000-32366400	Weak transcription	Left Ventricle	heart
45	chr22:32355000-32366400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr22:32355600-32366000	Weak transcription	Fetal Intestine Small	intestine
47	chr22:32355600-32366200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:32357200-32366200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr22:32357600-32365800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr22:32357800-32362400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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