Variant report

Variant	rs56398323
Chromosome Location	chr18:13299801-13299802
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	chr18:13215610..13217776-chr18:13298928..13300832,2	MCF-7	breast:
2	chr18:13297804..13299921-chr18:13302909..13305321,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	Chromatin interaction
ENSG00000267239	Chromatin interaction

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

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

rs_ID	r²[population]
rs1551364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1573507	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16940337	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs34884640	0.95[EUR][1000 genomes]
rs56359994	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6505796	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8084152	0.95[EUR][1000 genomes]
rs8097881	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv531246	chr18:13298774-14082028	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13274600-13301600	Weak transcription	Brain Substantia Nigra	brain
2	chr18:13274600-13302400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr18:13282800-13301600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:13285000-13316200	Weak transcription	Aorta	Aorta
5	chr18:13285400-13302600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr18:13290000-13301800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr18:13291600-13302000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:13292200-13300000	Weak transcription	Adipose Nuclei	Adipose
9	chr18:13292400-13302000	Weak transcription	Liver	Liver
10	chr18:13293000-13300000	Weak transcription	Fetal Brain Female	brain
11	chr18:13293000-13301800	Weak transcription	Fetal Stomach	stomach
12	chr18:13293200-13300200	Weak transcription	Brain Anterior Caudate	brain
13	chr18:13294400-13300000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr18:13294400-13300000	Weak transcription	Stomach Smooth Muscle	stomach
15	chr18:13294600-13300000	Weak transcription	Psoas Muscle	Psoas
16	chr18:13295600-13312600	Weak transcription	Dnd41	blood
17	chr18:13296600-13301200	Genic enhancers	Fetal Thymus	thymus
18	chr18:13296600-13301400	Weak transcription	Brain Angular Gyrus	brain
19	chr18:13297400-13302000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr18:13297600-13302000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr18:13297600-13302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr18:13297600-13302400	Weak transcription	Primary T cells from cord blood	blood
23	chr18:13297800-13301800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr18:13297800-13301800	Genic enhancers	Thymus	Thymus
25	chr18:13298600-13300000	Weak transcription	Lung	lung
26	chr18:13298600-13303000	Weak transcription	Gastric	stomach
27	chr18:13298800-13300000	Weak transcription	Right Ventricle	heart
28	chr18:13298800-13300800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:13298800-13300800	Weak transcription	Esophagus	oesophagus
30	chr18:13298800-13302600	Enhancers	Fetal Brain Male	brain
31	chr18:13298800-13303400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:13298800-13314600	Weak transcription	Fetal Intestine Small	intestine
33	chr18:13299200-13302200	Enhancers	Fetal Heart	heart
34	chr18:13299600-13301000	Enhancers	Brain Germinal Matrix	brain
35	chr18:13299800-13300400	Enhancers	Pancreas	Pancrea
36	chr18:13299800-13300600	Enhancers	HSMMtube	muscle
37	chr18:13299800-13301200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr18:13299800-13301200	Enhancers	Spleen	Spleen
39	chr18:13299800-13302000	Enhancers	Fetal Muscle Trunk	muscle
40	chr18:13299800-13302200	Enhancers	Right Atrium	heart
41	chr18:13299800-13303200	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr18:13299800-13303400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr18:13299800-13304200	Enhancers	Fetal Muscle Leg	muscle
44	chr18:13299800-13304600	Enhancers	Left Ventricle	heart

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