Variant report

Variant	rs35816581
Chromosome Location	chr12:58257760-58257761
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58257328..58259688-chr12:58290813..58293614,3	MCF-7	breast:
2	chr12:58256926..58259595-chr12:58266193..58268490,2	K562	blood:
3	chr12:58254046..58258722-chr12:58273553..58277019,6	MCF-7	breast:
4	chr12:58254019..58259551-chr12:58280629..58287945,9	MCF-7	breast:
5	chr12:58257612..58259236-chr12:58293224..58296608,3	MCF-7	breast:
6	chr12:58255940..58258991-chr12:58263646..58265441,3	K562	blood:
7	chr12:58237213..58243657-chr12:58255578..58259317,18	MCF-7	breast:
8	chr12:58257274..58258886-chr12:58300029..58301965,2	MCF-7	breast:
9	chr12:58251247..58254157-chr12:58257386..58260333,2	K562	blood:
10	chr12:58257740..58261779-chr12:58273700..58278459,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000245651	Chromatin interaction
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12818962	1.00[AFR][1000 genomes]
rs12822897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34929841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35420955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35569378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71461338	1.00[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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58249200-58257800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr12:58250400-58257800	Weak transcription	Fetal Intestine Small	intestine
3	chr12:58254400-58258400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:58255400-58258800	Enhancers	HMEC	breast
5	chr12:58256000-58258000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:58256000-58258000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:58256000-58258000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:58256000-58258000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:58256000-58258000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:58256000-58258000	Weak transcription	A549	lung
11	chr12:58256000-58258200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:58256000-58258200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:58256000-58258400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:58256000-58258600	Weak transcription	K562	blood
15	chr12:58256000-58259000	Weak transcription	Gastric	stomach
16	chr12:58256200-58257800	Weak transcription	Hela-S3	cervix
17	chr12:58256400-58258000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:58256400-58264600	Weak transcription	Spleen	Spleen
19	chr12:58256600-58258400	Enhancers	HSMM	muscle
20	chr12:58256800-58258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:58256800-58258000	Enhancers	NHDF-Ad	bronchial
22	chr12:58256800-58258400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:58256800-58258400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:58256800-58258600	Enhancers	Fetal Muscle Leg	muscle
25	chr12:58257000-58258000	Enhancers	HSMMtube	muscle
26	chr12:58257000-58258200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:58257000-58258200	Weak transcription	Fetal Intestine Large	intestine
28	chr12:58257000-58258400	Enhancers	Fetal Lung	lung
29	chr12:58257000-58260000	Enhancers	Fetal Brain Male	brain
30	chr12:58257200-58258200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:58257200-58258600	Enhancers	Ovary	ovary
32	chr12:58257200-58258600	Enhancers	NHEK	skin
33	chr12:58257200-58258800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:58257400-58257800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:58257400-58258000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:58257400-58258000	Enhancers	Rectal Smooth Muscle	rectum
37	chr12:58257400-58258200	Enhancers	Adipose Nuclei	Adipose
38	chr12:58257400-58258200	Enhancers	Aorta	Aorta
39	chr12:58257400-58258200	Enhancers	Brain Germinal Matrix	brain
40	chr12:58257400-58258200	Enhancers	Colon Smooth Muscle	Colon
41	chr12:58257400-58258200	Enhancers	Fetal Brain Female	brain
42	chr12:58257400-58258400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:58257400-58258400	Enhancers	Right Atrium	heart
44	chr12:58257400-58258600	Enhancers	Right Ventricle	heart
45	chr12:58257600-58258000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr12:58257600-58258000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:58257600-58258000	Enhancers	Stomach Smooth Muscle	stomach
48	chr12:58257600-58258000	Enhancers	NHLF	lung
49	chr12:58257600-58258200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:58257600-58258400	Enhancers	Brain Inferior Temporal Lobe	brain

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