Variant report

Variant	rs55819273
Chromosome Location	chr1:186913192-186913193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186912240..186914453-chr1:186917746..186919567,2	MCF-7	breast:
2	chr1:186893385..186896236-chr1:186910828..186913667,2	K562	blood:
3	chr1:186911265..186913664-chr1:186917899..186920017,2	K562	blood:
4	chr1:186911005..186913664-chr1:186917899..186920016,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2307195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6661772	1.00[AFR][1000 genomes]
rs72709853	1.00[AFR][1000 genomes]
rs72709867	1.00[AFR][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	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv548407	chr1:186875459-186951429	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 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	chr1:186881800-186933600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:186881800-186951200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:186890000-186924400	Weak transcription	Fetal Stomach	stomach
4	chr1:186890800-186928400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:186892800-186924000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr1:186895400-186937000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr1:186897600-186917800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186897600-186920800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:186900000-186935800	Weak transcription	NHDF-Ad	bronchial
10	chr1:186904000-186925200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:186906600-186920800	Weak transcription	Fetal Intestine Large	intestine
12	chr1:186908000-186933800	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:186909800-186916400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:186909800-186922600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:186909800-186932600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:186910000-186920000	Weak transcription	Adipose Nuclei	Adipose
17	chr1:186910400-186917600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:186910400-186919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:186911000-186915800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186911000-186917400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:186911400-186916400	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:186911600-186916000	Weak transcription	Hela-S3	cervix
23	chr1:186911800-186914400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:186912200-186913800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:186912400-186934600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:186912800-186913600	Flanking Active TSS	HUVEC	blood vessel
27	chr1:186913000-186913400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:186913000-186913400	Strong transcription	Primary hematopoietic stem cells	blood

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