Variant report

Variant	rs13314892
Chromosome Location	chr3:69795052-69795053
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	chr3:69794951..69797819-chr3:69799662..69801959,2	K562	blood:
2	chr3:69787097..69790813-chr3:69794141..69797560,3	K562	blood:

Variant related genes	Relation type
ENSG00000187098	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12714757	0.87[CEU][hapmap]
rs13318796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17043851	0.87[CEU][hapmap]
rs2114660	0.81[CEU][hapmap];0.82[AMR][1000 genomes]
rs2315497	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4855323	0.87[CEU][hapmap]
rs4855447	0.81[JPT][hapmap]
rs56386221	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57078287	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs60843510	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6772383	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9817946	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869047	0.88[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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:45 , 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	chr3:69790400-69795200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:69790600-69795200	Enhancers	Psoas Muscle	Psoas
4	chr3:69790600-69802200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr3:69790800-69796200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr3:69790800-69797400	Weak transcription	Brain Anterior Caudate	brain
7	chr3:69791000-69796000	Weak transcription	Brain Substantia Nigra	brain
8	chr3:69791000-69796200	Enhancers	Rectal Smooth Muscle	rectum
9	chr3:69791000-69798200	Enhancers	Fetal Thymus	thymus
10	chr3:69791200-69795200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:69791400-69795200	Enhancers	Ovary	ovary
12	chr3:69792000-69797400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:69792200-69798000	Enhancers	Adipose Nuclei	Adipose
14	chr3:69792800-69798400	Enhancers	Thymus	Thymus
15	chr3:69793200-69796000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:69793200-69798600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr3:69793600-69795600	Enhancers	Right Atrium	heart
18	chr3:69793600-69796800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:69794200-69801200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:69794400-69795200	Enhancers	Fetal Muscle Leg	muscle
21	chr3:69794400-69795400	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr3:69794400-69795400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr3:69794400-69799000	Enhancers	NHDF-Ad	bronchial
24	chr3:69794400-69799600	Enhancers	NHLF	lung
25	chr3:69794400-69800400	Enhancers	Fetal Heart	heart
26	chr3:69794600-69795200	Weak transcription	Fetal Stomach	stomach
27	chr3:69794600-69798200	Enhancers	Brain Hippocampus Middle	brain
28	chr3:69794800-69798000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:69795000-69795400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr3:69795000-69795400	Enhancers	Fetal Lung	lung
31	chr3:69795000-69795600	Enhancers	Primary T cells from cord blood	blood
32	chr3:69795000-69795600	Weak transcription	Aorta	Aorta
33	chr3:69795000-69795600	Active TSS	Stomach Smooth Muscle	stomach
34	chr3:69795000-69796000	Weak transcription	Left Ventricle	heart
35	chr3:69795000-69796000	Weak transcription	Right Ventricle	heart
36	chr3:69795000-69796200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:69795000-69796200	Weak transcription	Small Intestine	intestine
38	chr3:69795000-69796400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr3:69795000-69796400	Enhancers	Duodenum Mucosa	Duodenum
40	chr3:69795000-69796400	Enhancers	K562	blood
41	chr3:69795000-69797400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr3:69795000-69801600	Enhancers	Colon Smooth Muscle	Colon
43	chr3:69795000-69802000	Weak transcription	Lung	lung
44	chr3:69795000-69802200	Weak transcription	Esophagus	oesophagus
45	chr3:69795000-69810600	Weak transcription	Pancreas	Pancrea

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