Variant report

Variant	rs8083969
Chromosome Location	chr18:13291880-13291881
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	chr18:13291375..13292050-chr8:53976127..53977109,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11665323	1.00[JPT][hapmap]

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	nsv909408	chr18:13122618-13308950	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv909410	chr18:13151544-13308950	Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv2209	chr18:13276410-13316570	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8083969	AFG3L2	cis	cerebellum	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13270200-13297600	Weak transcription	Colonic Mucosa	Colon
2	chr18:13274600-13301600	Weak transcription	Brain Substantia Nigra	brain
3	chr18:13274600-13302400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr18:13280800-13299800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr18:13282800-13295200	Weak transcription	Dnd41	blood
6	chr18:13282800-13301600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr18:13285000-13294200	Weak transcription	Psoas Muscle	Psoas
8	chr18:13285000-13316200	Weak transcription	Aorta	Aorta
9	chr18:13285400-13292200	Weak transcription	Lung	lung
10	chr18:13285400-13296800	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr18:13285400-13302600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr18:13286000-13292200	Weak transcription	Fetal Brain Female	brain
13	chr18:13287200-13292000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr18:13287200-13298000	Weak transcription	Spleen	Spleen
15	chr18:13287800-13292000	Weak transcription	Brain Anterior Caudate	brain
16	chr18:13290000-13301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr18:13290200-13292000	Weak transcription	Right Atrium	heart
18	chr18:13290200-13292200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr18:13290200-13292400	Enhancers	Liver	Liver
20	chr18:13290200-13293400	Weak transcription	Right Ventricle	heart
21	chr18:13290200-13293800	Weak transcription	Fetal Muscle Leg	muscle
22	chr18:13290200-13293800	Weak transcription	Left Ventricle	heart
23	chr18:13290400-13293800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr18:13290400-13295200	Weak transcription	Primary T cells from cord blood	blood
25	chr18:13290400-13297800	Strong transcription	Thymus	Thymus
26	chr18:13290800-13293000	Strong transcription	Fetal Stomach	stomach
27	chr18:13291000-13293000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr18:13291200-13292200	Enhancers	Fetal Brain Male	brain
29	chr18:13291200-13295000	Strong transcription	Fetal Thymus	thymus
30	chr18:13291400-13292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr18:13291600-13294000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:13291600-13299800	Weak transcription	Pancreas	Pancrea
33	chr18:13291600-13302000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr18:13291800-13292200	Enhancers	Adipose Nuclei	Adipose
35	chr18:13291800-13295200	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links