Variant report

Variant	rs17095188
Chromosome Location	chr1:74828203-74828204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17095015	1.00[AMR][1000 genomes]
rs17095044	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095069	1.00[AMR][1000 genomes]
rs17095136	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095165	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095174	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17095242	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45447493	1.00[AMR][1000 genomes]
rs45481095	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45508791	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45510604	1.00[AMR][1000 genomes]
rs45549233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45582635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58260605	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964845	1.00[AMR][1000 genomes]
rs72964874	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72966112	1.00[AMR][1000 genomes]
rs72966139	1.00[AMR][1000 genomes]
rs72966905	1.00[AMR][1000 genomes]
rs72966927	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7513813	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004451	chr1:74107125-74874389	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv534999	chr1:74107125-74874389	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv522147	chr1:74338530-74983835	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1003171	chr1:74407468-75122270	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv535000	chr1:74407468-75122270	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1011308	chr1:74545016-74932777	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv1007414	chr1:74726454-74976335	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv535002	chr1:74726454-74976335	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv870654	chr1:74762198-74858724	ZNF genes & repeats Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1010042	chr1:74798856-75001977	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv461984	chr1:74804833-74874471	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv546577	chr1:74804833-74874471	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74809200-74830200	Weak transcription	Left Ventricle	heart
2	chr1:74821200-74844400	Weak transcription	Right Ventricle	heart
3	chr1:74823600-74834200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:74823800-74832600	Weak transcription	Fetal Brain Male	brain
5	chr1:74824200-74828600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:74826000-74830000	Enhancers	Fetal Heart	heart
7	chr1:74827600-74829600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:74828200-74828400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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