Variant report

Variant	rs2279108
Chromosome Location	chr3:160788538-160788539
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:160786415..160790259-chr3:161088559..161091068,4	MCF-7	breast:
2	chr3:160787939..160790136-chr3:160818386..160820468,2	MCF-7	breast:
3	chr3:160787784..160789478-chr3:161085891..161088171,2	MCF-7	breast:
4	chr3:160786229..160788544-chr3:160938497..160940062,2	MCF-7	breast:
5	chr3:160786404..160789728-chr3:161132273..161134989,3	MCF-7	breast:
6	chr3:160746924..160750622-chr3:160787755..160791172,3	MCF-7	breast:
7	chr3:160785968..160788814-chr3:160790660..160793617,2	K562	blood:
8	chr3:160787358..160789426-chr3:161053808..161055852,2	MCF-7	breast:
9	chr3:160783848..160785805-chr3:160786120..160789700,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction
ENSG00000169255	Chromatin interaction
ENSG00000169251	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2231254	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231257	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34445748	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614154	0.88[EUR][1000 genomes]
rs35667982	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36011360	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36051722	0.83[EUR][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	nsv931072	chr3:160669567-161159779	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160780400-160788600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:160780800-160821400	Weak transcription	Fetal Brain Male	brain
3	chr3:160781400-160803400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:160781600-160791000	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:160781800-160798200	Weak transcription	Fetal Stomach	stomach
6	chr3:160781800-160822000	Weak transcription	Thymus	Thymus
7	chr3:160782000-160799800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:160782800-160795000	Weak transcription	Right Ventricle	heart
9	chr3:160783400-160788600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:160784000-160789400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr3:160784200-160799000	Weak transcription	Ovary	ovary
12	chr3:160784400-160788800	Enhancers	Primary B cells from peripheral blood	blood
13	chr3:160785000-160789000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:160785400-160788600	Enhancers	Pancreas	Pancrea
15	chr3:160785400-160788800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr3:160785800-160789000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:160786200-160788800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:160786600-160788600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr3:160786600-160789000	Enhancers	Dnd41	blood
20	chr3:160786600-160789600	Enhancers	HUVEC	blood vessel
21	chr3:160786600-160790000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr3:160786800-160789200	Enhancers	Primary hematopoietic stem cells	blood
23	chr3:160787000-160788800	Enhancers	Stomach Mucosa	stomach
24	chr3:160787000-160789400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:160787000-160789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:160787000-160822000	Weak transcription	Primary T cells from cord blood	blood
27	chr3:160787200-160788600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:160787200-160788600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:160787200-160788600	Enhancers	Brain Angular Gyrus	brain
30	chr3:160787200-160788600	Enhancers	Esophagus	oesophagus
31	chr3:160787200-160788600	Enhancers	Right Atrium	heart
32	chr3:160787200-160788600	Enhancers	K562	blood
33	chr3:160787200-160788600	Enhancers	NHEK	skin
34	chr3:160787200-160788800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:160787200-160788800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr3:160787200-160788800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr3:160787200-160788800	Enhancers	HMEC	breast
38	chr3:160787200-160789000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:160787200-160789000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr3:160787200-160818800	Weak transcription	Brain Germinal Matrix	brain
41	chr3:160787400-160788600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:160787400-160788600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr3:160787400-160788600	Enhancers	Brain Hippocampus Middle	brain
44	chr3:160787400-160788600	Enhancers	Brain Substantia Nigra	brain
45	chr3:160787600-160788800	Enhancers	Primary B cells from cord blood	blood
46	chr3:160787600-160803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:160787800-160788800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:160787800-160788800	Enhancers	Adipose Nuclei	Adipose
49	chr3:160787800-160789200	Enhancers	Osteobl	bone
50	chr3:160787800-160789800	Enhancers	Brain Anterior Caudate	brain

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