Variant report

Variant	rs61947285
Chromosome Location	chr13:30493129-30493130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30482306..30489173-chr13:30491895..30500288,16	MCF-7	breast:
2	chr13:30492675..30494704-chr13:30496918..30499167,3	MCF-7	breast:
3	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
4	chr13:30420962..30426189-chr13:30489163..30500098,34	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UBL3-1	chr13:30492784-30493209	XLOC_010552

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3847988	0.88[EUR][1000 genomes]
rs492404	0.88[EUR][1000 genomes]
rs503010	0.88[EUR][1000 genomes]
rs61947282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61947284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660017	0.88[EUR][1000 genomes]
rs7323424	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs927734	0.88[EUR][1000 genomes]
rs9508593	0.88[EUR][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30476800-30497600	Weak transcription	Right Atrium	heart
2	chr13:30481400-30494000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:30485000-30494200	Weak transcription	A549	lung
4	chr13:30491200-30493600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:30491600-30501000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr13:30492400-30493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:30492400-30493600	Enhancers	Placenta	Placenta
8	chr13:30492400-30493600	Enhancers	Gastric	stomach
9	chr13:30492400-30493800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr13:30492400-30493800	Enhancers	Esophagus	oesophagus
11	chr13:30492400-30493800	Enhancers	Pancreas	Pancrea
12	chr13:30492400-30493800	Enhancers	NHEK	skin
13	chr13:30492400-30494800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr13:30492400-30497400	Enhancers	Hela-S3	cervix
15	chr13:30492400-30500600	Enhancers	HMEC	breast
16	chr13:30492600-30493800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:30492600-30493800	Enhancers	HSMM	muscle
18	chr13:30492600-30494000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:30492600-30494200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr13:30492600-30497400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr13:30492800-30493200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:30492800-30493400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:30492800-30493600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:30492800-30493600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr13:30492800-30493600	Enhancers	HSMMtube	muscle
26	chr13:30492800-30493600	Enhancers	Osteobl	bone
27	chr13:30492800-30493800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:30492800-30493800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:30492800-30493800	Enhancers	Stomach Mucosa	stomach
30	chr13:30492800-30493800	Enhancers	NH-A	brain
31	chr13:30492800-30493800	Enhancers	NHLF	lung
32	chr13:30492800-30495200	Enhancers	Liver	Liver
33	chr13:30492800-30497400	Enhancers	HepG2	liver
34	chr13:30493000-30494000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:30493000-30496800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr13:30493000-30497000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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