Variant report

Variant	rs6486789
Chromosome Location	chr12:122067972-122067973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122067919..122069512-chr12:122100581..122103506,2	K562	blood:
2	chr12:122067280..122069445-chr12:122087321..122089278,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10743188	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10770191	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12320939	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1877484	0.84[EUR][1000 genomes]
rs2309142	0.80[EUR][1000 genomes]
rs2669163	0.87[EUR][1000 genomes]
rs2669168	0.82[EUR][1000 genomes]
rs2720021	0.84[EUR][1000 genomes]
rs2720022	0.84[EUR][1000 genomes]
rs2720035	0.86[EUR][1000 genomes]
rs28409019	0.80[AFR][1000 genomes]
rs2942368	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2954116	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3825175	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6486786	0.82[EUR][1000 genomes]
rs7135617	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7297028	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7300349	0.82[AMR][1000 genomes]
rs7397295	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7978609	0.91[EUR][1000 genomes]
rs7978866	0.84[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	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122065000-122068400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr12:122065200-122068000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:122065400-122080800	Weak transcription	Aorta	Aorta
4	chr12:122065600-122068600	Weak transcription	Ovary	ovary
5	chr12:122065600-122069600	Enhancers	Spleen	Spleen
6	chr12:122065600-122071400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:122065800-122068000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr12:122065800-122068000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr12:122065800-122068200	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr12:122065800-122068200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr12:122065800-122068200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr12:122065800-122069400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr12:122066000-122068000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:122066000-122068800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:122066000-122078800	Weak transcription	Fetal Brain Female	brain
16	chr12:122066200-122068000	Enhancers	Stomach Mucosa	stomach
17	chr12:122066200-122068200	Enhancers	HMEC	breast
18	chr12:122066200-122069400	Enhancers	Right Ventricle	heart
19	chr12:122066200-122069400	Enhancers	NHDF-Ad	bronchial
20	chr12:122066200-122070000	Weak transcription	Brain Substantia Nigra	brain
21	chr12:122066200-122071400	Enhancers	Placenta	Placenta
22	chr12:122066200-122071400	Enhancers	Lung	lung
23	chr12:122066200-122071600	Enhancers	Liver	Liver
24	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:122066400-122068000	Enhancers	Colonic Mucosa	Colon
26	chr12:122066400-122068000	Enhancers	Left Ventricle	heart
27	chr12:122066400-122068000	Enhancers	NH-A	brain
28	chr12:122066400-122068000	Enhancers	Osteobl	bone
29	chr12:122066400-122068600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:122066400-122070000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:122066400-122070800	Weak transcription	Esophagus	oesophagus
32	chr12:122066400-122071600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr12:122066400-122071600	Enhancers	Psoas Muscle	Psoas
34	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
35	chr12:122066600-122068000	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:122066600-122068200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122066600-122068400	Enhancers	Thymus	Thymus
38	chr12:122066600-122068800	Genic enhancers	Fetal Stomach	stomach
39	chr12:122066600-122068800	Enhancers	Dnd41	blood
40	chr12:122066600-122069400	Enhancers	Adipose Nuclei	Adipose
41	chr12:122066600-122070000	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:122066600-122070600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr12:122066600-122070800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:122066600-122070800	Enhancers	HepG2	liver
45	chr12:122066800-122068000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:122066800-122068200	Enhancers	Fetal Lung	lung
47	chr12:122066800-122068400	Enhancers	Small Intestine	intestine
48	chr12:122066800-122068800	Enhancers	Duodenum Mucosa	Duodenum
49	chr12:122066800-122069000	Genic enhancers	Fetal Muscle Trunk	muscle
50	chr12:122066800-122069400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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