Variant report

Variant	rs136961
Chromosome Location	chr22:27816556-27816557
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12158509	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12160663	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13054757	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136940	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136941	0.80[EUR][1000 genomes]
rs136942	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136944	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136945	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136948	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136949	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136950	0.83[EUR][1000 genomes]
rs136955	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs136956	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1884127	0.87[ASN][1000 genomes]
rs1884128	0.87[ASN][1000 genomes]
rs1884129	0.87[ASN][1000 genomes]
rs2342940	0.82[EUR][1000 genomes]
rs34716864	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4822876	0.87[ASN][1000 genomes]
rs5752544	0.87[ASN][1000 genomes]
rs5762139	0.87[ASN][1000 genomes]
rs6005422	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005423	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6005427	0.95[ASN][1000 genomes]
rs73427534	0.95[ASN][1000 genomes]
rs79557	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr22:27812600-27816800	Enhancers	HUVEC	blood vessel
2	chr22:27812600-27817000	Enhancers	NH-A	brain
3	chr22:27812600-27817800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:27812800-27816600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:27812800-27817400	Weak transcription	Fetal Thymus	thymus
6	chr22:27813800-27816800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:27813800-27817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:27813800-27817400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:27813800-27817600	Enhancers	Brain Germinal Matrix	brain
10	chr22:27814000-27816600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:27814000-27816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:27814000-27817000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:27814200-27816600	Weak transcription	Fetal Brain Female	brain
14	chr22:27814200-27816800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:27814200-27817800	Enhancers	Pancreas	Pancrea
16	chr22:27814400-27816800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:27814600-27817600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr22:27814800-27816600	Enhancers	NHEK	skin
19	chr22:27814800-27816800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr22:27814800-27816800	Enhancers	HMEC	breast
21	chr22:27814800-27817400	Enhancers	Brain Hippocampus Middle	brain
22	chr22:27814800-27817400	Enhancers	Brain Substantia Nigra	brain
23	chr22:27815200-27816800	Enhancers	HSMM	muscle
24	chr22:27815200-27817000	Enhancers	Brain Angular Gyrus	brain
25	chr22:27815200-27817400	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr22:27815400-27817200	Enhancers	Brain Cingulate Gyrus	brain
27	chr22:27815400-27817400	Enhancers	Liver	Liver
28	chr22:27815600-27816800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:27815600-27817400	Enhancers	Brain Anterior Caudate	brain
30	chr22:27815600-27817600	Enhancers	Fetal Kidney	kidney
31	chr22:27815600-27818000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr22:27816200-27816600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr22:27816200-27816600	Enhancers	Fetal Stomach	stomach
34	chr22:27816200-27816600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr22:27816200-27816600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr22:27816200-27816600	Enhancers	HSMMtube	muscle
37	chr22:27816200-27816800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:27816200-27817600	Enhancers	Right Atrium	heart
39	chr22:27816200-27817800	Enhancers	Fetal Muscle Trunk	muscle
40	chr22:27816200-27817800	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr22:27816400-27816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:27816400-27816600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr22:27816400-27816600	Bivalent Enhancer	Rectal Smooth Muscle	rectum
44	chr22:27816400-27816600	Bivalent Enhancer	Right Ventricle	heart
45	chr22:27816400-27816800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:27816400-27816800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr22:27816400-27816800	Enhancers	Ovary	ovary
48	chr22:27816400-27816800	Enhancers	A549	lung
49	chr22:27816400-27816800	Enhancers	NHDF-Ad	bronchial
50	chr22:27816400-27816800	Enhancers	NHLF	lung

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