Variant report

Variant	rs2164527
Chromosome Location	chr4:148693230-148693231
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148691338..148693292-chr4:148693665..148695844,2	MCF-7	breast:
2	chr4:148649361..148653898-chr4:148687606..148694872,6	MCF-7	breast:
3	chr4:148692638..148695831-chr4:148697652..148700222,4	MCF-7	breast:
4	chr4:148692827..148694690-chr4:148699168..148701568,2	K562	blood:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10027921	0.81[ASN][1000 genomes]
rs11099669	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11729081	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12640660	0.87[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12645249	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12648074	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12650280	0.81[ASN][1000 genomes]
rs13116955	0.81[ASN][1000 genomes]
rs13134018	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2055551	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2134706	0.81[ASN][1000 genomes]
rs6535558	0.88[AFR][1000 genomes]
rs6535559	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6535560	0.90[AFR][1000 genomes]
rs6535561	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6822971	0.90[AFR][1000 genomes]
rs6839987	0.90[AFR][1000 genomes]
rs6840039	0.88[AFR][1000 genomes]
rs6845560	0.90[AFR][1000 genomes]
rs7673234	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7673606	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs924780	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9332471	0.89[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs964170	0.88[AFR][1000 genomes];0.97[ASN][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 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	chr4:148679200-148696400	Weak transcription	Lung	lung
2	chr4:148684400-148693600	Weak transcription	Fetal Kidney	kidney
3	chr4:148687200-148696400	Weak transcription	Right Ventricle	heart
4	chr4:148688800-148693400	Enhancers	HUVEC	blood vessel
5	chr4:148689400-148698000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:148689600-148693400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr4:148689800-148699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:148690400-148695000	Enhancers	Fetal Heart	heart
11	chr4:148691000-148693800	Enhancers	Left Ventricle	heart
12	chr4:148691200-148695600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr4:148691200-148696800	Enhancers	Psoas Muscle	Psoas
14	chr4:148691400-148694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr4:148691400-148697800	Enhancers	Fetal Intestine Small	intestine
16	chr4:148691800-148694200	Enhancers	Fetal Muscle Leg	muscle
17	chr4:148692200-148696800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:148692400-148697600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:148692600-148693400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:148692600-148693800	Enhancers	Duodenum Mucosa	Duodenum
21	chr4:148692800-148693400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:148692800-148693400	Enhancers	Osteobl	bone
23	chr4:148692800-148693600	Enhancers	Right Atrium	heart
24	chr4:148692800-148693800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr4:148692800-148695200	Enhancers	Stomach Mucosa	stomach
26	chr4:148692800-148695600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:148692800-148695600	Enhancers	NHDF-Ad	bronchial
28	chr4:148693000-148693400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:148693000-148693400	Enhancers	Pancreas	Pancrea
30	chr4:148693000-148693400	Flanking Active TSS	HSMM	muscle
31	chr4:148693000-148693600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:148693000-148693600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr4:148693000-148693600	Enhancers	Aorta	Aorta
34	chr4:148693000-148693600	Enhancers	Fetal Muscle Trunk	muscle
35	chr4:148693000-148693600	Enhancers	Small Intestine	intestine
36	chr4:148693000-148693800	Enhancers	Gastric	stomach
37	chr4:148693000-148693800	Enhancers	Ovary	ovary
38	chr4:148693000-148693800	Enhancers	Rectal Smooth Muscle	rectum
39	chr4:148693000-148695000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:148693000-148695600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:148693000-148695800	Enhancers	Fetal Intestine Large	intestine
42	chr4:148693200-148693600	Enhancers	Esophagus	oesophagus
43	chr4:148693200-148693600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr4:148693200-148693600	Flanking Active TSS	HSMMtube	muscle
45	chr4:148693200-148693600	Flanking Active TSS	NHLF	lung
46	chr4:148693200-148693800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:148693200-148693800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr4:148693200-148693800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr4:148693200-148693800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr4:148693200-148694000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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