Variant report

Variant	rs166626
Chromosome Location	chr1:86819157-86819158
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86817766..86820014-chr1:86820204..86822305,3	K562	blood:
2	chr1:86817633..86819266-chr1:86820612..86822159,2	K562	blood:

Variant related genes	Relation type
ENSG00000122417	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10493789	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10747328	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10873777	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1158505	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1182102	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1334143	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1334146	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1334147	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1334148	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs166627	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17129078	0.86[ASN][1000 genomes]
rs175363	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs187971	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1931363	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2104963	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2151708	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2151709	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs272491	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272492	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272494	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272498	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs272504	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs272507	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs272510	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs272511	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs272516	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3765975	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs405424	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4288573	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61804060	0.86[ASN][1000 genomes]
rs6695671	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs883200	0.83[EUR][1000 genomes];0.88[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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1792405	chr1:86814270-86825639	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86806400-86823600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:86808600-86842800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:86810400-86819200	Weak transcription	NHLF	lung
4	chr1:86810600-86819200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:86810800-86819400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:86812000-86819200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:86813000-86819200	Weak transcription	Left Ventricle	heart
8	chr1:86813200-86819200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:86813600-86819400	Weak transcription	Osteobl	bone
10	chr1:86813800-86836400	Weak transcription	Lung	lung
11	chr1:86813800-86842600	Weak transcription	Fetal Heart	heart
12	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
13	chr1:86815600-86819400	Weak transcription	Aorta	Aorta
14	chr1:86816000-86819200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:86816000-86819400	Weak transcription	Brain Germinal Matrix	brain
16	chr1:86816000-86842400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:86816200-86819200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:86816200-86824200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:86816200-86826200	Weak transcription	A549	lung
20	chr1:86816400-86820400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:86816800-86819200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:86817000-86819200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:86817200-86819200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:86817200-86820400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:86817200-86820400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:86817200-86843800	Weak transcription	Small Intestine	intestine
27	chr1:86817400-86819200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:86817400-86819200	Weak transcription	Spleen	Spleen
29	chr1:86817400-86819200	Weak transcription	HSMMtube	muscle
30	chr1:86817400-86820600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:86817400-86820800	Strong transcription	Dnd41	blood
32	chr1:86817400-86821000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:86817400-86824400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:86817400-86824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:86817400-86826000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:86817400-86826000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:86817400-86826200	Strong transcription	HUVEC	blood vessel
38	chr1:86817600-86819200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr1:86817600-86819200	Weak transcription	Brain Anterior Caudate	brain
40	chr1:86817600-86819200	Weak transcription	Brain Substantia Nigra	brain
41	chr1:86817600-86819200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:86817600-86819200	Weak transcription	Fetal Muscle Leg	muscle
43	chr1:86817600-86819200	Weak transcription	Ovary	ovary
44	chr1:86817600-86819200	Weak transcription	Right Ventricle	heart
45	chr1:86817600-86819200	Weak transcription	Thymus	Thymus
46	chr1:86817600-86820400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:86817600-86820400	Strong transcription	Liver	Liver
48	chr1:86817600-86820400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:86817600-86820600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:86817600-86821400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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