Variant report

Variant	rs60407409
Chromosome Location	chr1:47828409-47828410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47823657..47826211-chr1:47827367..47829793,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17103268	1.00[AMR][1000 genomes]
rs4528158	1.00[AMR][1000 genomes]
rs56758748	1.00[AMR][1000 genomes]
rs56779238	1.00[AMR][1000 genomes]
rs56791949	1.00[AMR][1000 genomes]
rs57028704	1.00[AMR][1000 genomes]
rs57162997	1.00[AMR][1000 genomes]
rs57407602	1.00[AMR][1000 genomes]
rs57525972	1.00[AMR][1000 genomes]
rs57563765	1.00[AMR][1000 genomes]
rs57869712	1.00[AMR][1000 genomes]
rs58495352	1.00[AMR][1000 genomes]
rs58544837	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59163203	1.00[AMR][1000 genomes]
rs59697055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60145556	1.00[AMR][1000 genomes]
rs60658472	1.00[AMR][1000 genomes]
rs60774059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60947098	1.00[AMR][1000 genomes]
rs61121898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61262802	1.00[AMR][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	nsv945737	chr1:47818194-47830776	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47800400-47834600	Weak transcription	Spleen	Spleen
2	chr1:47800600-47834400	Weak transcription	Gastric	stomach
3	chr1:47800600-47854600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:47801000-47834000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:47801000-47834200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:47801000-47834200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:47801000-47834200	Weak transcription	Thymus	Thymus
8	chr1:47801000-47838200	Weak transcription	NHDF-Ad	bronchial
9	chr1:47801000-47850800	Weak transcription	NHEK	skin
10	chr1:47801200-47834000	Weak transcription	HMEC	breast
11	chr1:47801200-47834200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:47801200-47834200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:47801200-47834200	Weak transcription	Fetal Brain Female	brain
14	chr1:47801200-47834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:47801200-47834600	Weak transcription	HSMMtube	muscle
16	chr1:47801200-47834600	Weak transcription	NHLF	lung
17	chr1:47801200-47839000	Weak transcription	Right Ventricle	heart
18	chr1:47801400-47834200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr1:47801800-47834200	Weak transcription	Placenta	Placenta
20	chr1:47802000-47834200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:47802200-47834200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr1:47802400-47830400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:47802400-47834200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:47802600-47834000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:47802600-47834200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:47802600-47834200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr1:47804000-47834000	Weak transcription	Dnd41	blood
28	chr1:47804200-47834200	Weak transcription	HUVEC	blood vessel
29	chr1:47804200-47834800	Weak transcription	Fetal Lung	lung
30	chr1:47805000-47834000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:47805000-47834200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:47805600-47830600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:47807200-47834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:47809800-47834200	Weak transcription	Fetal Intestine Large	intestine
35	chr1:47810000-47834200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:47812200-47834000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:47812200-47836800	Weak transcription	NH-A	brain
38	chr1:47813600-47834400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:47814000-47834200	Weak transcription	Liver	Liver
40	chr1:47814400-47834200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:47814400-47834200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:47814800-47830600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:47814800-47850600	Weak transcription	Aorta	Aorta
44	chr1:47815000-47833800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:47815000-47834200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:47815000-47834200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr1:47815200-47834000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:47815200-47834200	Weak transcription	Primary B cells from cord blood	blood
49	chr1:47815200-47834200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr1:47815200-47834200	Weak transcription	HSMM	muscle

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