Variant report

Variant	rs74137517
Chromosome Location	chr1:186801045-186801046
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs5274	1.00[AMR][1000 genomes]
rs59949256	1.00[AMR][1000 genomes]
rs74137516	1.00[AMR][1000 genomes]
rs74137518	1.00[AMR][1000 genomes]
rs74137519	1.00[AMR][1000 genomes]
rs74137520	1.00[AMR][1000 genomes]
rs74137521	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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
3	nsv466272	chr1:186742947-186803226	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv548406	chr1:186742947-186803226	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186798600-186802200	Weak transcription	Small Intestine	intestine
2	chr1:186798600-186807000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:186799200-186807000	Weak transcription	Stomach Mucosa	stomach
4	chr1:186799400-186804800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:186799400-186807400	Weak transcription	A549	lung
6	chr1:186799400-186810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:186799600-186806200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:186799600-186807000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:186800200-186801200	Enhancers	Colon Smooth Muscle	Colon
10	chr1:186800200-186802200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:186800200-186827800	Weak transcription	NHEK	skin
12	chr1:186800600-186801600	Weak transcription	Hela-S3	cervix
13	chr1:186800600-186802600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:186800600-186805200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:186800600-186806000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:186800600-186806800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:186800600-186807000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:186800600-186807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:186800800-186807000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:186801000-186806200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:186801000-186806200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:186801000-186818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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