Variant report

Variant	rs12249907
Chromosome Location	chr10:22992267-22992268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:22989774..22994119-chr10:23044705..23049476,4	K562	blood:
2	chr10:22945388..22947993-chr10:22991036..22993292,2	K562	blood:
3	chr10:22917566..22920351-chr10:22991227..22993855,2	K562	blood:
4	chr10:22917308..22919360-chr10:22991473..22993038,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11013098	0.90[EUR][1000 genomes]
rs11592199	0.90[EUR][1000 genomes]
rs11597784	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12255136	0.91[EUR][1000 genomes]
rs12257665	0.90[EUR][1000 genomes]
rs12266181	0.91[EUR][1000 genomes]
rs34729599	0.90[EUR][1000 genomes]
rs35360085	0.81[EUR][1000 genomes]
rs55645135	0.91[ASN][1000 genomes]
rs58647212	0.92[EUR][1000 genomes]
rs58727843	0.84[ASN][1000 genomes]
rs6482228	0.82[EUR][1000 genomes]
rs7079078	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7084115	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7100360	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][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	esv1830947	chr10:22881196-23004381	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv831809	chr10:22918101-23069676	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22972600-23000200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr10:22972800-22999400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr10:22973000-22997600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:22973000-22999200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr10:22975600-23001200	Weak transcription	Colonic Mucosa	Colon
6	chr10:22977200-22998400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:22977600-22999200	Weak transcription	Dnd41	blood
8	chr10:22980200-22993600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr10:22980400-22999000	Weak transcription	Lung	lung
10	chr10:22980400-23000800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:22983000-22999000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr10:22983000-22999200	Weak transcription	HSMM	muscle
13	chr10:22983200-22992400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr10:22983200-22999200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr10:22983200-23000400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr10:22983200-23001200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:22983200-23001400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr10:22983400-22992800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr10:22983400-23000000	Weak transcription	NHLF	lung
20	chr10:22983600-22994400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:22986800-22993600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr10:22987200-22999200	Weak transcription	Psoas Muscle	Psoas
23	chr10:22987200-23001600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:22987200-23001600	Weak transcription	Ovary	ovary
25	chr10:22987400-22993200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr10:22987800-23000400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr10:22988200-22992400	Enhancers	Fetal Thymus	thymus
28	chr10:22988600-23001600	Weak transcription	Fetal Intestine Small	intestine
29	chr10:22988800-22995600	Enhancers	Primary B cells from peripheral blood	blood
30	chr10:22989200-22992800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr10:22989200-22993200	Weak transcription	Adipose Nuclei	Adipose
32	chr10:22989200-22996600	Weak transcription	Right Ventricle	heart
33	chr10:22989200-22998200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:22989200-22999000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr10:22989200-23000000	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr10:22989600-22994000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:22989600-22996600	Weak transcription	Aorta	Aorta
38	chr10:22989600-22996600	Weak transcription	Left Ventricle	heart
39	chr10:22989600-22999200	Weak transcription	Esophagus	oesophagus
40	chr10:22989600-23001800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr10:22989600-23001800	Weak transcription	Pancreas	Pancrea
42	chr10:22990000-22996800	Enhancers	Brain Substantia Nigra	brain
43	chr10:22990400-22992600	Enhancers	Primary T cells from cord blood	blood
44	chr10:22990400-22993200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:22990600-22992600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr10:22990600-22999200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr10:22990600-22999400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr10:22990600-23000400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr10:22990600-23001800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr10:22990800-22992400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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