Variant report

Variant	rs1284850
Chromosome Location	chr1:213073727-213073728
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1284857	0.86[EUR][1000 genomes]
rs1284858	0.86[EUR][1000 genomes]
rs1284859	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs1284861	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1692181	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1692185	0.83[EUR][1000 genomes]
rs1770775	0.95[EUR][1000 genomes]
rs1770776	0.86[EUR][1000 genomes]
rs2252377	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs2487264	0.97[EUR][1000 genomes]
rs2487265	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2644546	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes]
rs2644550	0.86[EUR][1000 genomes]
rs2994522	0.86[EUR][1000 genomes]
rs57046861	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs931591	1.00[CEU][hapmap];0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs9430104	0.86[EUR][1000 genomes]
rs9430105	0.83[AMR][1000 genomes];0.86[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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213053400-213073800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:213056200-213074200	Strong transcription	Duodenum Mucosa	Duodenum
3	chr1:213057600-213075000	Weak transcription	Right Ventricle	heart
4	chr1:213062600-213075000	Weak transcription	Thymus	Thymus
5	chr1:213063600-213074800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:213065400-213073800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:213066400-213075400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:213067400-213074800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:213067800-213076000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:213068400-213074800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr1:213069200-213074800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:213069400-213074000	Weak transcription	Fetal Heart	heart
13	chr1:213069800-213074400	Weak transcription	HepG2	liver
14	chr1:213070000-213074400	Weak transcription	Colon Smooth Muscle	Colon
15	chr1:213070000-213076600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:213070800-213073800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:213070800-213074400	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr1:213071400-213075000	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr1:213072000-213073800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
20	chr1:213072000-213073800	ZNF genes & repeats	GM12878-XiMat	blood
21	chr1:213072000-213074200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:213072200-213074800	Weak transcription	HMEC	breast
23	chr1:213072200-213077000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
24	chr1:213072400-213073800	Strong transcription	Fetal Brain Male	brain
25	chr1:213072400-213075800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:213073000-213073800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:213073000-213073800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:213073000-213073800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr1:213073000-213073800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:213073000-213073800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:213073000-213073800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:213073000-213073800	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr1:213073000-213073800	ZNF genes & repeats	Aorta	Aorta
34	chr1:213073000-213073800	ZNF genes & repeats	Brain Germinal Matrix	brain
35	chr1:213073000-213073800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr1:213073000-213073800	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr1:213073000-213073800	ZNF genes & repeats	Left Ventricle	heart
38	chr1:213073000-213073800	ZNF genes & repeats	Pancreas	Pancrea
39	chr1:213073000-213074000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr1:213073000-213074000	ZNF genes & repeats	Brain Hippocampus Middle	brain
41	chr1:213073000-213074600	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr1:213073200-213073800	Genic enhancers	H1 Cell Line	embryonic stem cell
43	chr1:213073200-213073800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:213073200-213073800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr1:213073200-213073800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
46	chr1:213073200-213073800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr1:213073200-213073800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:213073200-213073800	ZNF genes & repeats	Liver	Liver
49	chr1:213073200-213073800	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr1:213073200-213073800	ZNF genes & repeats	Fetal Lung	lung

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