Variant report

Variant	rs60263370
Chromosome Location	chr4:143766164-143766165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:143764792..143768376-chr4:144104488..144107848,3	MCF-7	breast:
2	chr4:143392966..143400087-chr4:143764739..143770446,12	MCF-7	breast:
3	chr4:143470482..143472862-chr4:143765653..143767436,2	MCF-7	breast:
4	chr4:143391120..143394953-chr4:143764140..143771077,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109452	Chromatin interaction
ENSG00000170185	Chromatin interaction
ENSG00000250326	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10519666	0.84[ASN][1000 genomes]
rs11100761	0.84[ASN][1000 genomes]
rs11736709	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13112916	0.83[ASN][1000 genomes]
rs13122287	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13145724	0.83[ASN][1000 genomes]
rs1441411	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1441417	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1441418	0.84[ASN][1000 genomes]
rs1444949	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1444950	0.84[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17732791	0.84[ASN][1000 genomes]
rs1992417	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1992418	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1992652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218240	0.83[ASN][1000 genomes]
rs34831472	0.84[ASN][1000 genomes]
rs4575951	0.83[ASN][1000 genomes]
rs4690728	0.83[ASN][1000 genomes]
rs4690729	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58445560	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6537129	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6537130	0.83[ASN][1000 genomes]
rs6811022	0.84[ASN][1000 genomes]
rs6822703	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6823627	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6828896	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6831204	0.86[ASN][1000 genomes]
rs6838663	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6839158	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6846609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72728686	0.84[ASN][1000 genomes]
rs72728694	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72728700	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72730409	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73850583	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7656375	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7660533	0.84[ASN][1000 genomes]
rs7663475	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7668552	0.84[ASN][1000 genomes]
rs7668786	0.84[ASN][1000 genomes]
rs7670139	0.83[ASN][1000 genomes]
rs7685997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9994364	0.85[AFR][1000 genomes];0.86[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	nsv880174	chr4:143639498-143848024	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143761800-143766200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr4:143764400-143766800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:143764800-143766200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr4:143764800-143768800	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:143765200-143766600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:143765200-143766800	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr4:143765400-143766400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr4:143765400-143766800	Flanking Active TSS	Dnd41	blood
9	chr4:143765400-143768400	Active TSS	Aorta	Aorta
10	chr4:143765600-143766200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:143765600-143766200	Flanking Active TSS	Fetal Heart	heart
12	chr4:143765600-143766400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
13	chr4:143765600-143766600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr4:143765600-143766600	Enhancers	NHDF-Ad	bronchial
15	chr4:143765600-143767000	Active TSS	Brain Anterior Caudate	brain
16	chr4:143765600-143768000	Active TSS	Right Ventricle	heart
17	chr4:143765600-143768600	Active TSS	Brain Angular Gyrus	brain
18	chr4:143765800-143766200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:143765800-143766200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:143765800-143766400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:143765800-143766400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr4:143765800-143766400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
23	chr4:143765800-143766400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:143765800-143766400	Enhancers	Colon Smooth Muscle	Colon
25	chr4:143765800-143766400	Enhancers	Pancreas	Pancrea
26	chr4:143765800-143766400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr4:143765800-143766400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:143765800-143766400	Enhancers	NHLF	lung
29	chr4:143765800-143766600	Active TSS	Rectal Smooth Muscle	rectum
30	chr4:143765800-143766600	Enhancers	Hela-S3	cervix
31	chr4:143765800-143767400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:143765800-143767800	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:143765800-143768200	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr4:143766000-143766400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr4:143766000-143766400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr4:143766000-143766400	Bivalent Enhancer	Fetal Thymus	thymus
37	chr4:143766000-143766400	Bivalent Enhancer	Osteobl	bone
38	chr4:143766000-143766600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:143766000-143766800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:143766000-143766800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr4:143766000-143768600	Active TSS	A549	lung

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