Variant report

Variant	rs1011367
Chromosome Location	chr4:129390910-129390911
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	chr4:129388958..129391166-chr4:129391336..129393965,2	K562	blood:
2	chr4:129389395..129391397-chr4:129484580..129487004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251432	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17013331	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57252462	0.86[EUR][1000 genomes]
rs60570598	0.99[ASN][1000 genomes]
rs60682077	0.86[EUR][1000 genomes]
rs61052353	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61356416	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72928294	0.97[AFR][1000 genomes];1.00[AMR][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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129376600-129393200	Weak transcription	Placenta	Placenta
2	chr4:129376600-129406200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:129376600-129435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:129377000-129397000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:129377600-129394400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:129383000-129398800	Weak transcription	Pancreas	Pancrea
7	chr4:129386600-129398200	Weak transcription	Primary T cells from cord blood	blood
8	chr4:129388600-129406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:129389200-129391400	Weak transcription	Left Ventricle	heart
10	chr4:129389800-129392000	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:129389800-129392600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr4:129389800-129397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:129390000-129391400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:129390200-129392000	Weak transcription	HSMMtube	muscle
15	chr4:129390200-129392600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:129390200-129392600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:129390200-129392600	Enhancers	K562	blood
18	chr4:129390200-129396000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:129390200-129396800	Weak transcription	Brain Hippocampus Middle	brain
20	chr4:129390200-129402200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:129390200-129409000	Weak transcription	Fetal Heart	heart
22	chr4:129390400-129391200	Weak transcription	A549	lung
23	chr4:129390400-129391400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr4:129390400-129391600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:129390400-129391600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:129390400-129391800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:129390400-129392000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:129390400-129392000	Weak transcription	HSMM	muscle
29	chr4:129390400-129392000	Weak transcription	NHLF	lung
30	chr4:129390400-129392000	Weak transcription	Osteobl	bone
31	chr4:129390400-129392600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr4:129390400-129392800	Weak transcription	Fetal Intestine Small	intestine
33	chr4:129390400-129393800	Weak transcription	Adipose Nuclei	Adipose
34	chr4:129390400-129398800	Weak transcription	HUVEC	blood vessel
35	chr4:129390600-129392200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr4:129390600-129395800	Weak transcription	Esophagus	oesophagus
37	chr4:129390800-129392000	Weak transcription	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links