Variant report

Variant	rs12026380
Chromosome Location	chr1:62142816-62142817
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62136630..62139811-chr1:62142611..62146521,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11207811	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031230	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12404858	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17122681	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6675491	0.82[EUR][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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62103400-62146400	Weak transcription	Gastric	stomach
2	chr1:62120400-62148200	Weak transcription	Aorta	Aorta
3	chr1:62126000-62145800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:62126000-62148800	Weak transcription	Left Ventricle	heart
5	chr1:62126000-62165200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr1:62131600-62151400	Weak transcription	Lung	lung
7	chr1:62131600-62163800	Weak transcription	Thymus	Thymus
8	chr1:62134800-62164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:62134800-62164400	Weak transcription	Right Ventricle	heart
10	chr1:62135000-62146000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr1:62135000-62165000	Weak transcription	Brain Germinal Matrix	brain
12	chr1:62135400-62146200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:62136000-62146000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:62136000-62151200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:62136000-62153400	Weak transcription	NHDF-Ad	bronchial
16	chr1:62136600-62145600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:62136600-62145800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:62136600-62151800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:62136800-62143400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr1:62136800-62144000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:62137000-62146000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:62137000-62146200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:62137200-62145400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr1:62137400-62144400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr1:62137400-62146000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:62137400-62146200	Weak transcription	Brain Hippocampus Middle	brain
28	chr1:62137600-62145600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:62137800-62144200	Weak transcription	Adipose Nuclei	Adipose
30	chr1:62138000-62146200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:62138400-62145800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:62138400-62146200	Weak transcription	Esophagus	oesophagus
33	chr1:62138600-62148000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:62138800-62146200	Weak transcription	Fetal Lung	lung
35	chr1:62138800-62146200	Weak transcription	HMEC	breast
36	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
37	chr1:62139200-62144200	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:62139800-62145600	Weak transcription	Primary T cells from cord blood	blood
39	chr1:62139800-62146200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:62139800-62146200	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr1:62140000-62189000	Weak transcription	NHLF	lung
42	chr1:62140200-62163800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:62141000-62144200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr1:62141400-62146000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:62141600-62145600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:62141600-62146200	Weak transcription	GM12878-XiMat	blood
47	chr1:62142000-62144400	Weak transcription	Fetal Intestine Large	intestine
48	chr1:62142000-62146000	Weak transcription	HSMM	muscle
49	chr1:62142200-62143800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:62142200-62146000	Weak transcription	Fetal Thymus	thymus

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