Variant report

Variant	rs12126397
Chromosome Location	chr1:84464418-84464419
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84463410..84466364-chr1:84542152..84546505,5	K562	blood:

Variant related genes	Relation type
ENSG00000142875	Chromatin interaction
ENSG00000271576	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10489508	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493742	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493743	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163863	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11163864	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116464	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116522	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116857	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118371	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12118428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119338	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119424	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12119854	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120380	1.00[ASN][1000 genomes]
rs12120801	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120905	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121058	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121629	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123323	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125111	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125251	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12125649	1.00[ASN][1000 genomes]
rs12126515	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127526	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127657	1.00[ASN][1000 genomes]
rs12128942	1.00[ASN][1000 genomes]
rs12129276	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131968	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133196	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12133949	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135562	1.00[ASN][1000 genomes]
rs12135679	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12136835	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12138857	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139383	1.00[ASN][1000 genomes]
rs12140562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12140964	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12141166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142059	1.00[ASN][1000 genomes]
rs12142220	1.00[ASN][1000 genomes]
rs12142873	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12142944	1.00[EUR][1000 genomes]
rs12143951	1.00[ASN][1000 genomes]
rs12144066	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144704	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145472	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408474	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1408475	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130437	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17130475	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475494	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17534879	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1925712	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031371	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2181901	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389650	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293003	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41293005	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41423448	1.00[ASN][1000 genomes]
rs41525348	1.00[ASN][1000 genomes]
rs4258240	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4387198	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45515591	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56159052	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6700983	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519127	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645391	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645396	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9645397	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv823353	chr1:84464183-84465098	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84460000-84465600	Active TSS	Brain Anterior Caudate	brain
2	chr1:84461200-84465600	Active TSS	Brain Cingulate Gyrus	brain
3	chr1:84461800-84465600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr1:84461800-84465800	Active TSS	Aorta	Aorta
5	chr1:84461800-84465800	Active TSS	Brain Substantia Nigra	brain
6	chr1:84462000-84465600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:84462000-84466000	Active TSS	Brain Hippocampus Middle	brain
8	chr1:84462000-84467000	Active TSS	Brain Angular Gyrus	brain
9	chr1:84463000-84465800	Active TSS	NHLF	lung
10	chr1:84463400-84465600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr1:84463600-84466400	Active TSS	Stomach Smooth Muscle	stomach
12	chr1:84463800-84465000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:84463800-84465400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:84463800-84465400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:84463800-84465400	Active TSS	NHEK	skin
16	chr1:84463800-84465600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:84463800-84465600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr1:84463800-84465600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:84463800-84465600	Active TSS	Right Atrium	heart
20	chr1:84463800-84465600	Active TSS	Right Ventricle	heart
21	chr1:84463800-84465800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:84463800-84465800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:84464000-84464600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr1:84464000-84464600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
25	chr1:84464000-84464800	Bivalent/Poised TSS	Stomach Mucosa	stomach
26	chr1:84464000-84465200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:84464000-84465200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:84464000-84465200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
29	chr1:84464000-84465200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
30	chr1:84464000-84465200	Active TSS	Gastric	stomach
31	chr1:84464000-84465200	Active TSS	Lung	lung
32	chr1:84464000-84465200	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
33	chr1:84464000-84465200	Active TSS	NH-A	brain
34	chr1:84464000-84465200	Active TSS	Osteobl	bone
35	chr1:84464000-84465400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:84464000-84465400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:84464000-84465400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr1:84464000-84465400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:84464000-84465400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:84464000-84465400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr1:84464000-84465400	Active TSS	Fetal Brain Female	brain
42	chr1:84464000-84465400	Active TSS	Left Ventricle	heart
43	chr1:84464000-84465400	Active TSS	Psoas Muscle	Psoas
44	chr1:84464000-84465400	Active TSS	Rectal Smooth Muscle	rectum
45	chr1:84464000-84465400	Active TSS	A549	lung
46	chr1:84464000-84465400	Active TSS	HSMMtube	muscle
47	chr1:84464000-84465600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:84464000-84465600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:84464000-84465600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:84464000-84465600	Active TSS	Hela-S3	cervix

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