Variant report

Variant	rs10065814
Chromosome Location	chr5:142489982-142489983
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	chr5:142489594..142492192-chr5:142492646..142494592,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10214217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10477201	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11167803	0.88[AFR][1000 genomes]
rs13356063	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688005	1.00[AFR][1000 genomes]
rs60473595	0.81[AFR][1000 genomes]
rs60477396	1.00[AFR][1000 genomes]
rs61287676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9324906	1.00[AFR][1000 genomes];1.00[AMR][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	nsv830511	chr5:142335447-142496694	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1025662	chr5:142345454-142498236	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv522807	chr5:142417658-142529960	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142450000-142497000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:142463200-142513600	Weak transcription	Thymus	Thymus
3	chr5:142474000-142490400	Weak transcription	Fetal Intestine Small	intestine
4	chr5:142474200-142490000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:142474400-142527200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:142476200-142491400	Weak transcription	Esophagus	oesophagus
7	chr5:142479200-142503600	Weak transcription	Fetal Thymus	thymus
8	chr5:142480400-142498600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:142480600-142500600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:142481000-142491800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:142481000-142500600	Weak transcription	Dnd41	blood
12	chr5:142482000-142491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:142482000-142504200	Weak transcription	Aorta	Aorta
14	chr5:142482200-142491400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:142482200-142491400	Weak transcription	Placenta	Placenta
16	chr5:142482200-142499000	Weak transcription	Fetal Stomach	stomach
17	chr5:142482400-142496600	Weak transcription	Brain Substantia Nigra	brain
18	chr5:142482600-142490200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:142482600-142490400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr5:142482600-142490400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:142482600-142496800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:142482600-142500200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr5:142482800-142490800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:142485800-142508000	Weak transcription	HSMM	muscle
25	chr5:142486000-142490000	Weak transcription	NHEK	skin
26	chr5:142486000-142493800	Enhancers	Fetal Heart	heart
27	chr5:142486400-142490600	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr5:142486400-142491200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr5:142487200-142490000	Weak transcription	NHDF-Ad	bronchial
30	chr5:142487400-142491600	Enhancers	Duodenum Mucosa	Duodenum
31	chr5:142487600-142490600	Enhancers	Liver	Liver
32	chr5:142487800-142490200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:142487800-142490800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr5:142488200-142490200	Strong transcription	Primary T cells from cord blood	blood
35	chr5:142488200-142491600	Enhancers	Adipose Nuclei	Adipose
36	chr5:142488200-142492000	Enhancers	Right Ventricle	heart
37	chr5:142488400-142490200	Enhancers	Pancreas	Pancrea
38	chr5:142488400-142490400	Enhancers	Left Ventricle	heart
39	chr5:142488400-142490600	Enhancers	Psoas Muscle	Psoas
40	chr5:142488400-142490600	Enhancers	Right Atrium	heart
41	chr5:142488400-142500600	Weak transcription	Fetal Intestine Large	intestine
42	chr5:142488600-142490000	Enhancers	Spleen	Spleen
43	chr5:142488600-142490800	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:142488600-142491000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:142488600-142493200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:142488600-142505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:142488800-142497600	Weak transcription	Small Intestine	intestine
48	chr5:142489000-142493400	Weak transcription	Fetal Muscle Leg	muscle
49	chr5:142489000-142508000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr5:142489000-142514400	Weak transcription	Brain Anterior Caudate	brain

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