Variant report

Variant	rs61972930
Chromosome Location	chr13:96583112-96583113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:96575800..96578505-chr13:96580994..96583120,2	MCF-7	breast:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs17885267	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41306037	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41315036	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs45454901	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61966715	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61966754	1.00[AMR][1000 genomes]
rs61966755	1.00[AMR][1000 genomes]
rs61966758	1.00[AMR][1000 genomes]
rs61966759	1.00[AMR][1000 genomes]
rs61967964	1.00[AMR][1000 genomes]
rs61967995	1.00[AMR][1000 genomes]
rs61967998	1.00[AMR][1000 genomes]
rs61968001	1.00[AMR][1000 genomes]
rs61968003	1.00[AMR][1000 genomes]
rs61972863	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972866	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972867	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972891	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972897	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972899	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972901	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972902	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972903	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972905	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972921	0.92[EUR][1000 genomes]
rs61972926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972928	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972931	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61972933	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972943	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972945	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972947	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972950	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972952	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972953	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61972954	0.88[EUR][1000 genomes]
rs61973960	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973962	1.00[AMR][1000 genomes]
rs61973968	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61973970	1.00[AMR][1000 genomes];0.88[EUR][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	nsv832691	chr13:96478098-96659823	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv900935	chr13:96497070-96631221	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1050430	chr13:96508530-97020734	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv541883	chr13:96508530-97020734	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1041165	chr13:96522021-96966520	Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1051574	chr13:96550653-96779248	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv1040320	chr13:96573646-96790859	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:96495000-96590800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr13:96536200-96587200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr13:96543000-96586800	Weak transcription	Brain Hippocampus Middle	brain
4	chr13:96549400-96586400	Weak transcription	Hela-S3	cervix
5	chr13:96558400-96586600	Weak transcription	Right Ventricle	heart
6	chr13:96559600-96586400	Weak transcription	A549	lung
7	chr13:96559800-96583400	Weak transcription	Esophagus	oesophagus
8	chr13:96559800-96588600	Weak transcription	Gastric	stomach
9	chr13:96566800-96587000	Weak transcription	Colon Smooth Muscle	Colon
10	chr13:96571000-96588600	Weak transcription	Psoas Muscle	Psoas
11	chr13:96577000-96623200	Weak transcription	NHLF	lung
12	chr13:96577200-96585600	Weak transcription	NHDF-Ad	bronchial
13	chr13:96577200-96587600	Weak transcription	HepG2	liver
14	chr13:96577200-96598000	Weak transcription	HMEC	breast
15	chr13:96577800-96608800	Weak transcription	NHEK	skin
16	chr13:96579000-96587200	Weak transcription	NH-A	brain
17	chr13:96579000-96587600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr13:96580600-96585000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr13:96580600-96585400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr13:96580800-96583400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr13:96580800-96583800	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr13:96580800-96585600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr13:96580800-96588600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:96581000-96583600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
25	chr13:96581400-96583600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr13:96581400-96584200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:96581600-96583200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:96581600-96583200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
29	chr13:96581600-96583200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:96581600-96583400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr13:96581600-96583400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr13:96581600-96583400	Strong transcription	HSMM	muscle
33	chr13:96581600-96583600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
34	chr13:96581600-96583600	ZNF genes & repeats	Fetal Lung	lung
35	chr13:96581600-96585800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr13:96581600-96586600	Weak transcription	Aorta	Aorta
37	chr13:96581600-96589000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:96581600-96589600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:96581800-96583200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:96581800-96583200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
41	chr13:96581800-96583800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr13:96581800-96583800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:96582000-96583200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr13:96582000-96583400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:96582000-96583800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr13:96582000-96584200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:96582000-96586400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr13:96582000-96587400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:96582000-96587400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr13:96582200-96583400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell

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