Variant report

Variant	rs12982520
Chromosome Location	chr19:38221956-38221957
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr19:38221942-38222210	HepG2	liver:	n/a	n/a
2	REST	chr19:38221820-38222113	PANC-1	pancreas:	n/a	n/a

Variant related genes	Relation type
ENSG00000267152	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11668558	0.85[AFR][1000 genomes]
rs12982288	0.82[AFR][1000 genomes]
rs12982952	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv579468	chr19:37977609-38293487	ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv833820	chr19:38190721-38414049	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38210800-38229400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:38211000-38222000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr19:38211000-38224600	Weak transcription	Fetal Stomach	stomach
4	chr19:38211000-38225200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr19:38211000-38225200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr19:38211000-38226400	Weak transcription	Psoas Muscle	Psoas
7	chr19:38211000-38227600	Weak transcription	Brain Hippocampus Middle	brain
8	chr19:38211000-38228400	Weak transcription	Fetal Muscle Leg	muscle
9	chr19:38211000-38228600	Weak transcription	Brain Substantia Nigra	brain
10	chr19:38211000-38229200	Weak transcription	Fetal Kidney	kidney
11	chr19:38211000-38229200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr19:38211000-38229200	Weak transcription	Left Ventricle	heart
13	chr19:38211000-38229400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr19:38211000-38229400	Weak transcription	Brain Germinal Matrix	brain
15	chr19:38211000-38229400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:38211000-38230200	Weak transcription	Hela-S3	cervix
17	chr19:38211200-38225600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:38211200-38229200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr19:38211200-38229200	Weak transcription	Fetal Brain Female	brain
20	chr19:38211200-38229200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:38218400-38229200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:38219400-38224600	Weak transcription	Ovary	ovary
23	chr19:38221000-38222000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr19:38221000-38222000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr19:38221200-38241800	ZNF genes & repeats	Liver	Liver
26	chr19:38221400-38222000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
27	chr19:38221800-38222000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
28	chr19:38221800-38222200	ZNF genes & repeats	Pancreas	Pancrea
29	chr19:38221800-38225200	Weak transcription	Right Ventricle	heart
30	chr19:38221800-38225800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links