Variant report

Variant	rs278037
Chromosome Location	chr13:30424627-30424628
allele	A/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30421712..30424673-chr13:30474414..30478013,4	MCF-7	breast:
2	chr13:30421278..30427133-chr13:30682148..30691157,22	MCF-7	breast:
3	chr13:30422658..30425963-chr13:30681369..30690318,16	MCF-7	breast:
4	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
5	chr13:30423648..30426306-chr13:30437502..30441560,3	MCF-7	breast:
6	chr13:30422995..30424634-chr13:30430611..30432462,3	MCF-7	breast:
7	chr13:30341320..30342948-chr13:30422925..30424718,2	MCF-7	breast:
8	chr13:30424137..30424640-chr6:26271165..26271886,2	Hela-S3	cervix:
9	chr13:30422493..30424650-chr13:31348238..31349739,2	K562	blood:
10	chr13:30388860..30391420-chr13:30421974..30424803,2	MCF-7	breast:
11	chr13:30424219..30424825-chr13:48611138..48612130,2	NB4	blood:
12	chr13:30424398..30425376-chr16:67927027..67927531,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000159792	Chromatin interaction
ENSG00000136159	Chromatin interaction
ENSG00000224511	Chromatin interaction
ENSG00000256018	Chromatin interaction
ENSG00000224405	Chromatin interaction
ENSG00000136143	Chromatin interaction
ENSG00000236258	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11147398	0.89[YRI][hapmap]
rs17073936	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs182178	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1886170	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2234417	1.00[CHD][hapmap]
rs2388244	0.93[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.93[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.84[EUR][1000 genomes]
rs2388245	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4083610	0.91[YRI][hapmap]
rs4769774	1.00[ASW][hapmap];0.88[CEU][hapmap];0.88[CHD][hapmap];0.97[GIH][hapmap];0.87[LWK][hapmap];0.80[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs9506229	0.91[YRI][hapmap]
rs9508555	1.00[YRI][hapmap]
rs9508556	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs9550494	0.91[YRI][hapmap]
rs9551744	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs278037	MTUS2	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30417800-30425200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:30418600-30425000	Active TSS	GM12878-XiMat	blood
3	chr13:30419400-30424800	Active TSS	Placenta Amnion	Placenta Amnion
4	chr13:30419400-30425000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr13:30419600-30425000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:30420200-30425000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr13:30420400-30424800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:30420400-30424800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:30420400-30424800	Active TSS	HSMMtube	muscle
10	chr13:30420400-30424800	Active TSS	NHLF	lung
11	chr13:30420400-30425000	Active TSS	Brain Angular Gyrus	brain
12	chr13:30420600-30424800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr13:30420600-30425000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:30420600-30425000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:30420600-30425000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr13:30420600-30425000	Active TSS	A549	lung
17	chr13:30420600-30425200	Active TSS	Brain Substantia Nigra	brain
18	chr13:30420800-30424800	Active TSS	Aorta	Aorta
19	chr13:30420800-30424800	Active TSS	Fetal Stomach	stomach
20	chr13:30420800-30424800	Active TSS	Ovary	ovary
21	chr13:30420800-30425000	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr13:30420800-30425000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr13:30420800-30425000	Active TSS	Brain Cingulate Gyrus	brain
24	chr13:30420800-30425000	Active TSS	Hela-S3	cervix
25	chr13:30420800-30425200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:30421000-30424800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr13:30421000-30424800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr13:30421000-30424800	Active TSS	Colonic Mucosa	Colon
29	chr13:30421000-30424800	Active TSS	Fetal Muscle Leg	muscle
30	chr13:30421000-30424800	Active TSS	Right Ventricle	heart
31	chr13:30421000-30425000	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr13:30421000-30425000	Active TSS	Brain Anterior Caudate	brain
33	chr13:30421000-30425000	Active TSS	Stomach Mucosa	stomach
34	chr13:30421000-30425000	Active TSS	HSMM	muscle
35	chr13:30421000-30425400	Active TSS	Thymus	Thymus
36	chr13:30421200-30424800	Active TSS	Colon Smooth Muscle	Colon
37	chr13:30421200-30424800	Active TSS	Fetal Intestine Large	intestine
38	chr13:30421200-30425000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:30421200-30425000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr13:30421200-30425000	Active TSS	Muscle Satellite Cultured Cells	--
41	chr13:30421200-30425000	Active TSS	Brain Hippocampus Middle	brain
42	chr13:30421200-30425000	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr13:30421200-30425000	Active TSS	Fetal Brain Female	brain
44	chr13:30421200-30425000	Active TSS	Fetal Thymus	thymus
45	chr13:30421200-30425000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr13:30421200-30425000	Active TSS	Rectal Mucosa Donor 31	rectum
47	chr13:30421200-30425000	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr13:30421200-30425000	Active TSS	NHDF-Ad	bronchial
49	chr13:30421200-30425200	Active TSS	NH-A	brain
50	chr13:30421400-30424800	Active TSS	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links