Variant report

Variant	rs61356416
Chromosome Location	chr4:129390192-129390193
allele	A/G
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	GATA1	chr4:129388586-129390232	PBDE	blood:	n/a	n/a
2	IRF1	chr4:129389570-129390208	K562	blood:	n/a	chr4:129389803-129389816 chr4:129389800-129389814 chr4:129389804-129389818 chr4:129389804-129389814 chr4:129389803-129389816 chr4:129389803-129389816 chr4:129389798-129389815 chr4:129389798-129389819 chr4:129389803-129389814

No.	Distal block	Cell Line	Cell type
1	chr4:129388958..129391166-chr4:129391336..129393965,2	K562	blood:
2	chr4:129387442..129390283-chr4:129446907..129450145,3	MCF-7	breast:
3	chr4:129389395..129391397-chr4:129484580..129487004,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251432	TF binding region
ENSG00000251432	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1011367	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57252462	1.00[EUR][1000 genomes]
rs60570598	0.99[ASN][1000 genomes]
rs60682077	1.00[EUR][1000 genomes]
rs61052353	1.00[EUR][1000 genomes];1.00[ASN][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:51 , 50 per page) page: 1 2

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	chr4:129387800-129390400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:129388400-129390400	Enhancers	Osteobl	bone
10	chr4:129388600-129406400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:129388800-129390200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:129388800-129390200	Enhancers	Fetal Brain Male	brain
13	chr4:129388800-129390400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:129388800-129390400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:129389000-129390200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:129389000-129390200	Enhancers	Colon Smooth Muscle	Colon
17	chr4:129389000-129390200	Enhancers	Fetal Heart	heart
18	chr4:129389000-129390400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:129389000-129390400	Enhancers	Adipose Nuclei	Adipose
20	chr4:129389000-129390400	Enhancers	Fetal Lung	lung
21	chr4:129389000-129390400	Enhancers	A549	lung
22	chr4:129389000-129390600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr4:129389200-129390200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr4:129389200-129390200	Enhancers	Fetal Stomach	stomach
25	chr4:129389200-129390400	Enhancers	HSMM	muscle
26	chr4:129389200-129390400	Enhancers	NHLF	lung
27	chr4:129389200-129391400	Weak transcription	Left Ventricle	heart
28	chr4:129389400-129390200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:129389400-129390200	Enhancers	Fetal Intestine Large	intestine
30	chr4:129389600-129390200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:129389600-129390400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr4:129389600-129390400	Enhancers	NH-A	brain
33	chr4:129389800-129390200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr4:129389800-129390200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:129389800-129390200	Weak transcription	Fetal Intestine Small	intestine
36	chr4:129389800-129390200	Enhancers	HSMMtube	muscle
37	chr4:129389800-129390200	Flanking Active TSS	K562	blood
38	chr4:129389800-129390400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:129389800-129390400	Enhancers	Duodenum Mucosa	Duodenum
40	chr4:129389800-129392000	Weak transcription	Fetal Muscle Leg	muscle
41	chr4:129389800-129392600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:129389800-129397000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:129390000-129390200	Enhancers	Brain Hippocampus Middle	brain
44	chr4:129390000-129390200	Enhancers	Brain Substantia Nigra	brain
45	chr4:129390000-129390200	Enhancers	NHEK	skin
46	chr4:129390000-129390400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr4:129390000-129390400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr4:129390000-129390400	Enhancers	Ovary	ovary
49	chr4:129390000-129390400	Enhancers	HUVEC	blood vessel
50	chr4:129390000-129390400	Flanking Active TSS	NHDF-Ad	bronchial

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