Variant report

Variant	rs2315497
Chromosome Location	chr3:69795660-69795661
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:69794951..69797819-chr3:69799662..69801959,2	K562	blood:
2	chr3:69787097..69790813-chr3:69794141..69797560,3	K562	blood:
3	chr3:69792105..69794601-chr3:69795513..69798225,3	K562	blood:
4	chr3:69795100..69796668-chr3:69799958..69802171,2	K562	blood:

Variant related genes	Relation type
ENSG00000187098	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13314892	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13318796	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56386221	0.81[AMR][1000 genomes]
rs57078287	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60843510	0.81[AMR][1000 genomes]
rs6772383	0.81[AMR][1000 genomes]
rs9817946	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9869047	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][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	nsv834723	chr3:69643641-69811601	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69790200-69797400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:69790600-69802200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:69790800-69796200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:69790800-69797400	Weak transcription	Brain Anterior Caudate	brain
5	chr3:69791000-69796000	Weak transcription	Brain Substantia Nigra	brain
6	chr3:69791000-69796200	Enhancers	Rectal Smooth Muscle	rectum
7	chr3:69791000-69798200	Enhancers	Fetal Thymus	thymus
8	chr3:69792000-69797400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:69792200-69798000	Enhancers	Adipose Nuclei	Adipose
10	chr3:69792800-69798400	Enhancers	Thymus	Thymus
11	chr3:69793200-69796000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:69793200-69798600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr3:69793600-69796800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:69794200-69801200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:69794400-69799000	Enhancers	NHDF-Ad	bronchial
16	chr3:69794400-69799600	Enhancers	NHLF	lung
17	chr3:69794400-69800400	Enhancers	Fetal Heart	heart
18	chr3:69794600-69798200	Enhancers	Brain Hippocampus Middle	brain
19	chr3:69794800-69798000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr3:69795000-69796000	Weak transcription	Left Ventricle	heart
21	chr3:69795000-69796000	Weak transcription	Right Ventricle	heart
22	chr3:69795000-69796200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr3:69795000-69796200	Weak transcription	Small Intestine	intestine
24	chr3:69795000-69796400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr3:69795000-69796400	Enhancers	Duodenum Mucosa	Duodenum
26	chr3:69795000-69796400	Enhancers	K562	blood
27	chr3:69795000-69797400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:69795000-69801600	Enhancers	Colon Smooth Muscle	Colon
29	chr3:69795000-69802000	Weak transcription	Lung	lung
30	chr3:69795000-69802200	Weak transcription	Esophagus	oesophagus
31	chr3:69795000-69810600	Weak transcription	Pancreas	Pancrea
32	chr3:69795200-69796000	Active TSS	Ovary	ovary
33	chr3:69795200-69797000	Enhancers	Fetal Stomach	stomach
34	chr3:69795200-69798000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:69795200-69798600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:69795400-69795800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:69795400-69795800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr3:69795400-69795800	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr3:69795400-69798400	Weak transcription	Fetal Lung	lung
40	chr3:69795600-69796000	Weak transcription	Right Atrium	heart
41	chr3:69795600-69796200	Enhancers	Stomach Smooth Muscle	stomach
42	chr3:69795600-69796400	Enhancers	Fetal Muscle Leg	muscle
43	chr3:69795600-69796600	Weak transcription	Primary T cells from cord blood	blood
44	chr3:69795600-69796600	Enhancers	Aorta	Aorta
45	chr3:69795600-69799400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:69795600-69801200	Enhancers	Psoas Muscle	Psoas

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