Variant report

Variant	rs74137516
Chromosome Location	chr1:186798866-186798867
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	chr1:186798323..186798999-chr2:128284697..128285443,2	Hela-S3	cervix:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs5274	1.00[AMR][1000 genomes]
rs56306057	0.91[AFR][1000 genomes]
rs59949256	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137510	0.84[AFR][1000 genomes]
rs74137517	1.00[AMR][1000 genomes]
rs74137518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74137521	1.00[AFR][1000 genomes];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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186797600-186799000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:186797600-186799000	Active TSS	Osteobl	bone
3	chr1:186797600-186799200	Active TSS	Stomach Mucosa	stomach
4	chr1:186797600-186799400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:186797600-186799400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:186797600-186799400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr1:186797600-186799400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:186797600-186799400	Active TSS	Stomach Smooth Muscle	stomach
9	chr1:186797600-186799400	Active TSS	NHDF-Ad	bronchial
10	chr1:186797600-186799600	Active TSS	Primary monocytes fromperipheralblood	blood
11	chr1:186797600-186799600	Active TSS	Colon Smooth Muscle	Colon
12	chr1:186797600-186799800	Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr1:186797600-186799800	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:186797600-186800000	Active TSS	Primary B cells from cord blood	blood
15	chr1:186797600-186800000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:186797600-186800200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:186797600-186800600	Active TSS	Hela-S3	cervix
18	chr1:186797800-186799000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:186797800-186799000	Active TSS	Fetal Intestine Large	intestine
20	chr1:186797800-186799000	Active TSS	Fetal Kidney	kidney
21	chr1:186797800-186799000	Active TSS	Fetal Stomach	stomach
22	chr1:186797800-186799000	Active TSS	A549	lung
23	chr1:186797800-186799000	Active TSS	NHLF	lung
24	chr1:186797800-186799200	Active TSS	Aorta	Aorta
25	chr1:186797800-186799200	Active TSS	Brain Angular Gyrus	brain
26	chr1:186797800-186799200	Active TSS	Colonic Mucosa	Colon
27	chr1:186797800-186799400	Active TSS	GM12878-XiMat	blood
28	chr1:186797800-186799400	Active TSS	NH-A	brain
29	chr1:186797800-186799600	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:186797800-186799600	Active TSS	HMEC	breast
31	chr1:186797800-186799800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:186797800-186799800	Active TSS	Adipose Nuclei	Adipose
33	chr1:186797800-186799800	Active TSS	Right Atrium	heart
34	chr1:186797800-186800000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr1:186797800-186800000	Active TSS	NHEK	skin
36	chr1:186797800-186800200	Active TSS	Duodenum Mucosa	Duodenum
37	chr1:186798000-186799200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr1:186798200-186799400	Active TSS	Brain Hippocampus Middle	brain
39	chr1:186798200-186799800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr1:186798400-186799200	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:186798400-186799200	Flanking Active TSS	HUVEC	blood vessel
42	chr1:186798400-186799400	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr1:186798600-186799000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:186798600-186799200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr1:186798600-186799200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:186798600-186799200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr1:186798600-186802200	Weak transcription	Small Intestine	intestine
48	chr1:186798600-186807000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:186798800-186799000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
50	chr1:186798800-186799000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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