Variant report

Variant	rs2146019
Chromosome Location	chr1:114258263-114258264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10858016	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11102671	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1111695	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1230682	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1230686	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2185971	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2273758	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2797414	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3789598	0.90[EUR][1000 genomes]
rs6696784	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7556622	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][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	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv831093	chr1:114254167-114378235	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers 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	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114203200-114298600	Weak transcription	Fetal Brain Male	brain
2	chr1:114216200-114279800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:114220400-114263800	Weak transcription	Fetal Kidney	kidney
4	chr1:114227000-114268200	Weak transcription	NHLF	lung
5	chr1:114228000-114287800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:114236400-114300000	Weak transcription	Small Intestine	intestine
7	chr1:114238200-114264400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:114238400-114266800	Weak transcription	NHEK	skin
9	chr1:114239000-114260400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:114239200-114279800	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:114239400-114258600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:114240200-114260800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:114240200-114279400	Weak transcription	Psoas Muscle	Psoas
14	chr1:114242000-114300000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:114242200-114258800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:114242200-114260200	Weak transcription	Esophagus	oesophagus
17	chr1:114242200-114260800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:114242200-114260800	Weak transcription	Fetal Lung	lung
19	chr1:114242200-114260800	Weak transcription	Ovary	ovary
20	chr1:114242200-114261000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:114242200-114261200	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:114242200-114261200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:114242800-114269800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr1:114245400-114270800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:114245400-114275000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:114245600-114300600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:114245800-114261200	Weak transcription	Primary T cells from cord blood	blood
28	chr1:114246000-114259800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:114246000-114260200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:114246400-114258800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:114246800-114259400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:114248800-114290200	Weak transcription	HMEC	breast
33	chr1:114250600-114261200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr1:114251000-114260800	Weak transcription	Brain Angular Gyrus	brain
35	chr1:114251000-114291400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:114251800-114261000	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:114252800-114260800	Weak transcription	Hela-S3	cervix
38	chr1:114253000-114261000	Weak transcription	Placenta	Placenta
39	chr1:114253000-114261000	Weak transcription	HepG2	liver
40	chr1:114253000-114279400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:114253000-114279600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr1:114253200-114260200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:114253200-114260400	Weak transcription	Fetal Brain Female	brain
44	chr1:114253200-114261000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:114253200-114263400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:114253200-114266800	Weak transcription	HSMM	muscle
47	chr1:114253400-114260600	Weak transcription	Fetal Intestine Large	intestine
48	chr1:114253400-114266800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr1:114254000-114272200	Weak transcription	HSMMtube	muscle
50	chr1:114254200-114261200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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