Variant report

Variant	rs73469291
Chromosome Location	chr6:78171717-78171718
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11965950	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16888969	1.00[AMR][1000 genomes]
rs6926923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471207	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73471212	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7752615	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017082	chr6:77585310-78258237	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv534282	chr6:77764575-78351994	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1034979	chr6:77781244-78426249	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv538324	chr6:77781244-78426249	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1015307	chr6:77902559-78352291	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1028259	chr6:78059491-78709871	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv538325	chr6:78059491-78709871	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv2758062	chr6:78100020-78283042	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2759445	chr6:78100020-78283042	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:78166600-78171800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:78167400-78171800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:78169400-78172000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:78169400-78174600	Active TSS	Aorta	Aorta
5	chr6:78170600-78171800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:78171000-78172400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:78171400-78171800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr6:78171400-78171800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:78171400-78171800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:78171400-78171800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
11	chr6:78171400-78172000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
12	chr6:78171400-78172200	Flanking Active TSS	NH-A	brain
13	chr6:78171400-78172600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:78171400-78172600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
15	chr6:78171400-78172800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
16	chr6:78171400-78173600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr6:78171400-78174400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:78171400-78174600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:78171400-78174600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
20	chr6:78171600-78171800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr6:78171600-78171800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:78171600-78171800	Bivalent/Poised TSS	Fetal Heart	heart
23	chr6:78171600-78171800	Flanking Active TSS	Stomach Mucosa	stomach
24	chr6:78171600-78172000	Bivalent Enhancer	Fetal Brain Female	brain
25	chr6:78171600-78172000	Flanking Active TSS	HUVEC	blood vessel
26	chr6:78171600-78172000	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr6:78171600-78172200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:78171600-78172400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
29	chr6:78171600-78172400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
30	chr6:78171600-78172400	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr6:78171600-78172600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:78171600-78172600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:78171600-78172600	Active TSS	HMEC	breast
34	chr6:78171600-78172800	Bivalent/Poised TSS	NHLF	lung
35	chr6:78171600-78173000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr6:78171600-78174400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:78171600-78174600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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