Variant report

Variant	rs12142280
Chromosome Location	chr1:172864652-172864653
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172864444..172866529-chr1:172867768..172870761,3	K562	blood:
2	chr1:172859088..172861490-chr1:172863508..172865755,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10912481	1.00[ASN][1000 genomes]
rs11801183	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122161	0.90[EUR][1000 genomes]
rs12131049	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12142955	0.86[EUR][1000 genomes]
rs12143054	0.86[EUR][1000 genomes]
rs12143056	0.86[EUR][1000 genomes]
rs55713877	0.88[AFR][1000 genomes]
rs61828382	0.86[EUR][1000 genomes]
rs61828384	0.86[EUR][1000 genomes]
rs61828386	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6684112	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172862600-172865200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:172862800-172866800	Weak transcription	HMEC	breast
3	chr1:172863400-172865200	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:172863400-172865200	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:172863600-172865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:172863600-172865200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:172863600-172865200	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr1:172863600-172865200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:172863600-172865200	Enhancers	Stomach Mucosa	stomach
10	chr1:172863600-172865800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:172863800-172865000	Flanking Active TSS	Dnd41	blood
12	chr1:172863800-172865000	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:172863800-172865200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:172863800-172865200	Enhancers	HSMMtube	muscle
15	chr1:172864000-172864800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr1:172864000-172865000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:172864000-172865600	Enhancers	HSMM	muscle
18	chr1:172864200-172864800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:172864200-172864800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:172864200-172864800	Flanking Active TSS	HUVEC	blood vessel
21	chr1:172864200-172865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:172864200-172865000	Weak transcription	Small Intestine	intestine
23	chr1:172864200-172865200	Enhancers	NHDF-Ad	bronchial
24	chr1:172864200-172865600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:172864400-172864800	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr1:172864400-172864800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:172864400-172864800	Flanking Active TSS	NHEK	skin
28	chr1:172864400-172865200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr1:172864400-172865600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:172864400-172865600	Enhancers	Osteobl	bone
31	chr1:172864400-172866200	Enhancers	Hela-S3	cervix
32	chr1:172864400-172867400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr1:172864600-172864800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr1:172864600-172865000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:172864600-172865000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:172864600-172865000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:172864600-172865000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:172864600-172865000	Active TSS	A549	lung
39	chr1:172864600-172865200	Enhancers	Primary B cells from cord blood	blood
40	chr1:172864600-172865200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:172864600-172865200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:172864600-172865200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr1:172864600-172865200	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:172864600-172865400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr1:172864600-172865400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:172864600-172865600	Enhancers	Primary T cells from cord blood	blood
47	chr1:172864600-172865600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:172864600-172865600	Enhancers	Primary T helper naive cells from peripheral blood	blood
49	chr1:172864600-172865600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr1:172864600-172865600	Enhancers	Primary T helper cells fromperipheralblood	blood

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