Variant report

Variant	rs12023428
Chromosome Location	chr1:92048412-92048413
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92046311..92049077-chr1:92051859..92054355,2	K562	blood:
2	chr1:92047577..92050180-chr1:92051854..92054355,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11164996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12023393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12027582	0.83[ASN][1000 genomes]
rs12046806	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564910	0.83[ASN][1000 genomes]
rs17131493	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1848436	0.86[ASN][1000 genomes]
rs4658240	0.83[ASN][1000 genomes]
rs4658242	0.83[ASN][1000 genomes]
rs6662147	0.83[ASN][1000 genomes]
rs6681340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6685470	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92036400-92051000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:92038200-92049000	Weak transcription	Right Atrium	heart
3	chr1:92041800-92051200	Weak transcription	Fetal Brain Male	brain
4	chr1:92043000-92049000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:92044600-92050000	Weak transcription	Lung	lung
6	chr1:92045000-92049000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:92045400-92051400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:92046000-92055000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:92046200-92049000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:92047000-92050000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:92047200-92049800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:92047200-92052000	Enhancers	Fetal Stomach	stomach
13	chr1:92047400-92050600	Enhancers	NHDF-Ad	bronchial
14	chr1:92047400-92050800	Enhancers	NHLF	lung
15	chr1:92047600-92048600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:92047600-92050800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:92047600-92051000	Enhancers	Ovary	ovary
18	chr1:92047800-92048600	Enhancers	Placenta	Placenta
19	chr1:92047800-92049000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:92047800-92049200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:92047800-92049200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:92047800-92049200	Enhancers	HSMM	muscle
23	chr1:92047800-92049400	Enhancers	Rectal Smooth Muscle	rectum
24	chr1:92047800-92049400	Enhancers	Osteobl	bone
25	chr1:92047800-92049600	Enhancers	Dnd41	blood
26	chr1:92047800-92049800	Enhancers	NH-A	brain
27	chr1:92048000-92048800	Enhancers	HUVEC	blood vessel
28	chr1:92048000-92049200	Enhancers	Fetal Lung	lung
29	chr1:92048000-92049400	Enhancers	Fetal Heart	heart
30	chr1:92048000-92049400	Enhancers	Fetal Muscle Leg	muscle
31	chr1:92048000-92049600	Enhancers	NHEK	skin
32	chr1:92048000-92049800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:92048000-92051800	Enhancers	Colon Smooth Muscle	Colon
34	chr1:92048000-92052200	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:92048200-92048600	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:92048200-92048800	Enhancers	A549	lung
37	chr1:92048200-92049000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:92048200-92049000	Enhancers	Fetal Kidney	kidney
39	chr1:92048200-92049000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr1:92048200-92049200	Weak transcription	Left Ventricle	heart
41	chr1:92048200-92051000	Weak transcription	Aorta	Aorta
42	chr1:92048400-92048600	Enhancers	Pancreatic Islets	Pancreatic Islet
43	chr1:92048400-92048800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:92048400-92048800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:92048400-92048800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:92048400-92050800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:92048400-92054200	Weak transcription	K562	blood

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