Variant report

Variant	rs774373
Chromosome Location	chr3:138075633-138075634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138061037..138063195-chr3:138073891..138076466,2	MCF-7	breast:
2	chr3:138073894..138077050-chr3:138080713..138083758,3	MCF-7	breast:
3	chr3:138066480..138068258-chr3:138074140..138076419,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158186	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1199328	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1199333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199334	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199335	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1199336	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199346	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1199347	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1201763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1209710	0.80[AMR][1000 genomes]
rs1212469	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13082471	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1308362	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624314	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166195	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs166196	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1679149	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1720825	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs183151	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs194146	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs253662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs253666	0.80[AMR][1000 genomes]
rs40005	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs40412	1.00[ASN][1000 genomes]
rs42761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4346503	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4437085	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4678416	0.92[EUR][1000 genomes]
rs6809480	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs799328	1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs811332	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138068400-138083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:138068600-138084600	Weak transcription	Gastric	stomach
3	chr3:138068800-138075800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:138068800-138076000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr3:138068800-138093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:138069000-138076000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr3:138069000-138077800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:138069200-138088200	Weak transcription	Fetal Lung	lung
9	chr3:138069400-138078000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:138069400-138080600	Weak transcription	NHLF	lung
11	chr3:138070000-138096600	Weak transcription	Fetal Brain Male	brain
12	chr3:138070200-138086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr3:138070800-138076800	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:138071000-138085600	Weak transcription	Brain Germinal Matrix	brain
15	chr3:138071200-138080800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:138071200-138082400	Weak transcription	Spleen	Spleen
17	chr3:138071200-138082800	Weak transcription	Esophagus	oesophagus
18	chr3:138071200-138096600	Weak transcription	Aorta	Aorta
19	chr3:138071600-138077600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:138071600-138086600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:138071800-138083400	Weak transcription	Placenta	Placenta
22	chr3:138072600-138080000	Genic enhancers	HSMMtube	muscle
23	chr3:138073000-138078000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:138073600-138075800	Strong transcription	Fetal Stomach	stomach
25	chr3:138073800-138084600	Weak transcription	Fetal Intestine Small	intestine
26	chr3:138074000-138076000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:138074000-138076800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:138074200-138077600	Enhancers	Brain Substantia Nigra	brain
29	chr3:138074200-138095600	Enhancers	Fetal Heart	heart
30	chr3:138074400-138078800	Weak transcription	Fetal Brain Female	brain
31	chr3:138074400-138079400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr3:138074600-138077200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:138074600-138080400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:138074800-138076800	Enhancers	Right Ventricle	heart
35	chr3:138074800-138079800	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr3:138074800-138089800	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:138075000-138076000	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr3:138075000-138076000	Enhancers	HSMM	muscle
39	chr3:138075000-138076600	Enhancers	Brain Angular Gyrus	brain
40	chr3:138075000-138077400	Enhancers	Fetal Muscle Leg	muscle
41	chr3:138075000-138077600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:138075000-138078000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:138075000-138086400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:138075000-138090000	Enhancers	Brain Anterior Caudate	brain
45	chr3:138075200-138076400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:138075200-138079400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr3:138075400-138075800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:138075400-138075800	Enhancers	Lung	lung
49	chr3:138075400-138076000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr3:138075400-138076000	Weak transcription	Osteobl	bone

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