Variant report

Variant	rs2146398
Chromosome Location	chr13:49977917-49977918
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11148144	0.95[CEU][hapmap]
rs11618777	0.95[ASN][1000 genomes]
rs11618809	0.94[ASN][1000 genomes]
rs11618821	0.90[ASN][1000 genomes]
rs11618850	0.95[ASN][1000 genomes]
rs11619997	0.95[ASN][1000 genomes]
rs12184916	0.95[ASN][1000 genomes]
rs12428391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12429253	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12430677	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17072878	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2146399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs34445445	0.95[ASN][1000 genomes]
rs56042151	0.86[ASN][1000 genomes]
rs61948294	0.95[ASN][1000 genomes]
rs74073711	0.95[ASN][1000 genomes]
rs74073715	0.89[ASN][1000 genomes]
rs9285171	0.88[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9285172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9316445	0.83[EUR][1000 genomes]
rs9526554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526555	0.96[ASN][1000 genomes]
rs9526557	0.95[ASN][1000 genomes]
rs9526558	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9526560	0.95[ASN][1000 genomes]
rs9535224	0.90[ASN][1000 genomes]
rs9535225	0.95[ASN][1000 genomes]
rs9535226	0.91[ASN][1000 genomes]
rs9535227	0.92[ASN][1000 genomes]
rs9535231	0.92[CHB][hapmap];0.87[JPT][hapmap];0.95[ASN][1000 genomes]
rs9535232	0.95[ASN][1000 genomes]
rs9535233	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs9535234	0.95[ASN][1000 genomes]
rs9596095	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49975600-49978200	Weak transcription	Fetal Intestine Small	intestine
2	chr13:49975600-49993600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:49975600-50001000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:49975800-49978000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:49975800-49978200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:49975800-49978200	Weak transcription	Gastric	stomach
7	chr13:49975800-49978200	Weak transcription	Left Ventricle	heart
8	chr13:49975800-49978200	Weak transcription	Psoas Muscle	Psoas
9	chr13:49975800-49978400	Weak transcription	Pancreas	Pancrea
10	chr13:49975800-49978400	Weak transcription	HSMMtube	muscle
11	chr13:49975800-49978600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr13:49975800-49983400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:49975800-49987600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:49975800-49991000	Weak transcription	Right Ventricle	heart
15	chr13:49975800-50001600	Weak transcription	Fetal Stomach	stomach
16	chr13:49975800-50013600	Weak transcription	Primary B cells from cord blood	blood
17	chr13:49976000-49978200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:49976000-49979000	Weak transcription	NHDF-Ad	bronchial
19	chr13:49976000-49983000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:49976000-49992800	Weak transcription	Ovary	ovary
21	chr13:49976200-49978200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:49976200-49978200	Weak transcription	Fetal Lung	lung
23	chr13:49976600-49978200	Weak transcription	Aorta	Aorta
24	chr13:49976600-49983200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:49976600-49983400	Weak transcription	Brain Angular Gyrus	brain
26	chr13:49976800-49978600	Weak transcription	Colon Smooth Muscle	Colon
27	chr13:49977200-49978200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr13:49977600-49978200	Weak transcription	Brain Substantia Nigra	brain
29	chr13:49977800-49978000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr13:49977800-49978200	Weak transcription	Fetal Brain Male	brain

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