Variant report

Variant	rs74076123
Chromosome Location	chr1:62136890-62136891
allele	A/G
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:4)

rs_ID	r²[population]
rs1151769	0.91[EUR][1000 genomes]
rs1286627	0.91[EUR][1000 genomes]
rs2185983	0.91[EUR][1000 genomes]
rs56108611	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv508226	chr1:62091093-62140604	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

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	chr1:62131800-62139000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:62134800-62164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:62134800-62164400	Weak transcription	Right Ventricle	heart
11	chr1:62135000-62146000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:62135000-62165000	Weak transcription	Brain Germinal Matrix	brain
13	chr1:62135400-62146200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:62135800-62137200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:62136000-62137000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr1:62136000-62146000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr1:62136000-62151200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:62136000-62153400	Weak transcription	NHDF-Ad	bronchial
19	chr1:62136200-62137000	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:62136400-62137400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:62136600-62137400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:62136600-62139800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:62136600-62145600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:62136600-62145800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr1:62136600-62151800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:62136800-62143400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:62136800-62144000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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