Variant report

Variant	rs6005423
Chromosome Location	chr22:27813277-27813278
allele	C/G
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:26)

rs_ID	r²[population]
rs12158509	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12160663	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13054757	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136940	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136942	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136944	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs136945	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136948	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136949	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs136950	0.82[EUR][1000 genomes]
rs136955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs136956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs136961	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1884127	0.85[ASN][1000 genomes]
rs1884128	0.85[ASN][1000 genomes]
rs1884129	0.85[ASN][1000 genomes]
rs2342940	0.81[EUR][1000 genomes]
rs34716864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4822876	0.85[ASN][1000 genomes]
rs5752544	0.85[ASN][1000 genomes]
rs5762139	0.85[ASN][1000 genomes]
rs6005422	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6005425	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005427	0.92[ASN][1000 genomes]
rs73427534	0.92[ASN][1000 genomes]
rs79557	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27810800-27813800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr22:27810800-27814000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr22:27810800-27814200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr22:27810800-27814200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:27811200-27814600	Enhancers	Fetal Brain Male	brain
6	chr22:27811600-27813800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:27811600-27813800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27811600-27813800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:27811600-27814000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27811600-27814200	Enhancers	Fetal Brain Female	brain
11	chr22:27811800-27813400	Enhancers	Pancreas	Pancrea
12	chr22:27811800-27813600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:27811800-27813600	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr22:27811800-27814000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr22:27811800-27814000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr22:27811800-27814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:27812000-27813400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:27812000-27813600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr22:27812000-27813600	Enhancers	NHEK	skin
20	chr22:27812000-27813800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr22:27812000-27813800	Enhancers	HMEC	breast
22	chr22:27812000-27814000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr22:27812000-27814000	Bivalent Enhancer	Fetal Stomach	stomach
24	chr22:27812000-27814200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr22:27812200-27813400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr22:27812200-27813400	Enhancers	HSMM	muscle
27	chr22:27812200-27813800	Enhancers	Fetal Lung	lung
28	chr22:27812200-27813800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr22:27812200-27814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr22:27812400-27813400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:27812400-27813600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:27812400-27813600	Enhancers	Fetal Heart	heart
33	chr22:27812600-27813400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:27812600-27813400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:27812600-27813400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:27812600-27813400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
37	chr22:27812600-27813400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr22:27812600-27813400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:27812600-27813400	Enhancers	Fetal Intestine Small	intestine
40	chr22:27812600-27813400	Enhancers	Ovary	ovary
41	chr22:27812600-27813400	Enhancers	Osteobl	bone
42	chr22:27812600-27813600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr22:27812600-27813600	Enhancers	Gastric	stomach
44	chr22:27812600-27813800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr22:27812600-27813800	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr22:27812600-27816800	Enhancers	HUVEC	blood vessel
47	chr22:27812600-27817000	Enhancers	NH-A	brain
48	chr22:27812600-27817800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:27812800-27813400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr22:27812800-27813400	Bivalent Enhancer	Stomach Smooth Muscle	stomach

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