Variant report

Variant	rs12621215
Chromosome Location	chr2:171901183-171901184
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171896348..171898007-chr2:171899729..171902396,2	K562	blood:
2	chr2:171893514..171896240-chr2:171897106..171902330,7	K562	blood:
3	chr2:171889760..171896240-chr2:171897516..171901220,6	K562	blood:
4	chr2:171896308..171898201-chr2:171899378..171901872,2	MCF-7	breast:
5	chr2:171901100..171903739-chr2:171903772..171906509,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10168109	1.00[EUR][1000 genomes]
rs10173304	1.00[EUR][1000 genomes]
rs10174275	1.00[EUR][1000 genomes]
rs10204442	1.00[EUR][1000 genomes]
rs10754976	1.00[EUR][1000 genomes]
rs10803856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10930452	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13382924	1.00[EUR][1000 genomes]
rs13385649	1.00[EUR][1000 genomes]
rs13395368	1.00[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[EUR][1000 genomes]
rs2033161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2052809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2059722	1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	1.00[EUR][1000 genomes]
rs2247657	1.00[EUR][1000 genomes]
rs2356372	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[EUR][1000 genomes]
rs2555921	1.00[EUR][1000 genomes]
rs2555923	1.00[EUR][1000 genomes]
rs2555924	1.00[EUR][1000 genomes]
rs2555925	1.00[EUR][1000 genomes]
rs2555927	1.00[EUR][1000 genomes]
rs2557800	1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	1.00[EUR][1000 genomes]
rs2676135	1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs2723247	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	1.00[EUR][1000 genomes]
rs4668366	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668367	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6433274	1.00[EUR][1000 genomes]
rs6433279	1.00[EUR][1000 genomes]
rs6433280	1.00[EUR][1000 genomes]
rs6721080	1.00[EUR][1000 genomes]
rs6722314	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6732108	1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6751462	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761606	1.00[EUR][1000 genomes]
rs73027301	1.00[EUR][1000 genomes]
rs7560590	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7582081	1.00[EUR][1000 genomes]
rs7584937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs964171	1.00[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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv834456	chr2:171874210-172014659	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
4	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
6	chr2:171862600-171918400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:171862800-171931200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr2:171865800-171905000	Weak transcription	Fetal Heart	heart
9	chr2:171867800-171916200	Weak transcription	Gastric	stomach
10	chr2:171874800-171916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:171878000-171943200	Weak transcription	Small Intestine	intestine
12	chr2:171878800-171940000	Weak transcription	Stomach Mucosa	stomach
13	chr2:171882600-171902200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:171883600-171916200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:171884200-171913000	Strong transcription	Liver	Liver
16	chr2:171885600-171902800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:171886000-171902200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:171887400-171903200	Strong transcription	Primary hematopoietic stem cells	blood
19	chr2:171888200-171913800	Strong transcription	HepG2	liver
20	chr2:171890400-171901400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:171890400-171912800	Strong transcription	Placenta	Placenta
22	chr2:171890400-171917600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:171890600-171902200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
24	chr2:171891000-171913400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:171891400-171911600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:171892000-171904000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:171892000-171906600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:171892400-171911800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:171892400-171943400	Weak transcription	Spleen	Spleen
30	chr2:171892600-171905000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:171892600-171905000	Weak transcription	Brain Substantia Nigra	brain
32	chr2:171892600-171916200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:171892600-171918200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr2:171892800-171903200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:171892800-171907600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr2:171892800-171916200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:171892800-171918000	Weak transcription	NHLF	lung
38	chr2:171893000-171913600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr2:171893200-171901200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:171893200-171918400	Weak transcription	Fetal Brain Female	brain
41	chr2:171893400-171903800	Weak transcription	HSMMtube	muscle
42	chr2:171894000-171901200	Weak transcription	NHEK	skin
43	chr2:171894800-171912400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:171895000-171912400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:171895000-171918000	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:171895200-171902600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr2:171895400-171917600	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:171895600-171901400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr2:171895600-171903400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:171895600-171907000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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