Variant report

Variant	rs406283
Chromosome Location	chr5:81016313-81016314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12186581	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13156146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13160079	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1347597	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34007998	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs365241	0.84[ASN][1000 genomes]
rs371705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs374479	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs382523	0.82[ASN][1000 genomes]
rs389860	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs393766	0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs398666	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402061	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402352	0.86[ASN][1000 genomes]
rs402433	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs403777	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs403795	0.84[ASN][1000 genomes]
rs411520	0.86[ASN][1000 genomes]
rs411840	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs411990	0.84[ASN][1000 genomes]
rs418033	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs419435	0.86[ASN][1000 genomes]
rs420202	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs420412	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs421348	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs422523	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs424844	0.86[ASN][1000 genomes]
rs425897	0.84[ASN][1000 genomes]
rs432617	0.86[ASN][1000 genomes]
rs437417	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs446064	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs452314	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs586695	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs827065	1.00[JPT][hapmap];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830362	chr5:80990787-81184249	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80984200-81032000	Weak transcription	Esophagus	oesophagus
2	chr5:80997800-81021600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:81000400-81017000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:81005200-81022000	Weak transcription	Brain Germinal Matrix	brain
5	chr5:81005400-81022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:81006200-81017600	Weak transcription	Fetal Brain Female	brain
7	chr5:81008800-81044800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:81010000-81022000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:81011600-81029800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:81013000-81018000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr5:81013000-81018600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:81013200-81017600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr5:81013600-81017000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:81013600-81018400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr5:81013600-81019800	Enhancers	Colon Smooth Muscle	Colon
16	chr5:81013600-81021200	Enhancers	Primary T cells from cord blood	blood
17	chr5:81014000-81016400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr5:81014000-81018200	Enhancers	Primary hematopoietic stem cells	blood
19	chr5:81014000-81021200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr5:81014000-81022400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:81014200-81017400	Weak transcription	NHDF-Ad	bronchial
22	chr5:81014200-81017800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr5:81014200-81018800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:81014200-81019200	Enhancers	Rectal Smooth Muscle	rectum
25	chr5:81014400-81016400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:81014400-81016400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr5:81014400-81016600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:81014400-81016600	Enhancers	K562	blood
29	chr5:81014400-81017200	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:81014400-81017600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:81014400-81017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:81014400-81022800	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr5:81014600-81022800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:81014800-81017800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:81014800-81017800	Weak transcription	Fetal Heart	heart
36	chr5:81015000-81016400	Enhancers	Thymus	Thymus
37	chr5:81015000-81018400	Enhancers	Brain Substantia Nigra	brain
38	chr5:81015200-81016400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:81015200-81016800	Weak transcription	Stomach Mucosa	stomach
40	chr5:81015400-81016800	Enhancers	Brain Hippocampus Middle	brain
41	chr5:81015400-81017400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:81015400-81017600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr5:81015400-81018000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr5:81015400-81020600	Weak transcription	Primary B cells from cord blood	blood
45	chr5:81015600-81016400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr5:81015600-81016800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:81015600-81016800	Weak transcription	GM12878-XiMat	blood
48	chr5:81015600-81021400	Weak transcription	Small Intestine	intestine
49	chr5:81015800-81016400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr5:81015800-81017000	Weak transcription	Fetal Lung	lung

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