Variant report

Variant	rs13419711
Chromosome Location	chr2:134400182-134400183
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:134263749..134265675-chr2:134399274..134401241,2	MCF-7	breast:
2	chr2:134383649..134385456-chr2:134399469..134401121,2	MCF-7	breast:
3	chr2:134365245..134367451-chr2:134398214..134401016,3	MCF-7	breast:
4	chr2:134386454..134389246-chr2:134397997..134400619,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10174467	0.87[ASN][1000 genomes]
rs10200864	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10928457	0.82[EUR][1000 genomes]
rs12614645	0.82[EUR][1000 genomes]
rs13382906	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13402567	0.87[ASN][1000 genomes]
rs13418989	0.86[ASN][1000 genomes]
rs1614797	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1622528	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1653790	0.87[ASN][1000 genomes]
rs1653791	0.85[ASN][1000 genomes]
rs1653792	0.87[ASN][1000 genomes]
rs1653794	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1669465	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1669469	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16827604	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1901431	0.87[ASN][1000 genomes]
rs1901451	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1901452	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167530	0.89[ASN][1000 genomes]
rs4362615	0.86[ASN][1000 genomes]
rs61112423	0.87[ASN][1000 genomes]
rs6430435	0.89[ASN][1000 genomes]
rs6752312	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6758320	0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73000199	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7569801	0.87[ASN][1000 genomes]
rs7586760	0.87[ASN][1000 genomes]
rs7593735	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7599633	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003624	chr2:134126928-134583203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1006101	chr2:134263288-134973917	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv431713	chr2:134316522-134413604	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1013713	chr2:134322236-134644574	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv535931	chr2:134322236-134644574	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv2934	chr2:134368478-134412454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv998920	chr2:134382097-134424640	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134395800-134402800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134397600-134402000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:134398600-134401000	Enhancers	Osteobl	bone
4	chr2:134398800-134400400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:134398800-134401800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:134398800-134402800	Enhancers	Brain Anterior Caudate	brain
7	chr2:134399000-134400200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:134399000-134400400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:134399000-134400600	Enhancers	NHLF	lung
10	chr2:134399000-134400800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:134399000-134401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:134399200-134400400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:134399200-134400800	Enhancers	NHDF-Ad	bronchial
14	chr2:134399200-134401200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:134399200-134402000	Enhancers	Brain Angular Gyrus	brain
16	chr2:134399200-134402000	Enhancers	Brain Cingulate Gyrus	brain
17	chr2:134399400-134401000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:134399400-134401200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:134399400-134401400	Enhancers	Fetal Lung	lung
20	chr2:134399400-134402000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:134399400-134402200	Enhancers	Brain Substantia Nigra	brain
22	chr2:134399400-134416000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:134399600-134400600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:134399600-134400800	Enhancers	NH-A	brain
25	chr2:134399600-134400800	Enhancers	NHEK	skin
26	chr2:134399800-134400400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:134399800-134401200	Enhancers	Fetal Stomach	stomach
28	chr2:134399800-134402000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:134399800-134402200	Enhancers	Fetal Heart	heart
30	chr2:134399800-134402800	Enhancers	Fetal Brain Male	brain
31	chr2:134400000-134400200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:134400000-134400200	Flanking Active TSS	Brain Hippocampus Middle	brain
33	chr2:134400000-134400200	Enhancers	Fetal Brain Female	brain
34	chr2:134400000-134400400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:134400000-134400400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:134400000-134400800	Enhancers	HMEC	breast
37	chr2:134400000-134401400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:134400000-134401400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:134400000-134401400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:134400000-134401400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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