Variant report

Variant	rs28447315
Chromosome Location	chr7:137294211-137294212
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:135345198..135347329-chr7:137294054..137295838,2	K562	blood:
2	chr7:137293881..137295799-chr7:137306408..137308804,2	K562	blood:
3	chr7:137288310..137290144-chr7:137293453..137295736,2	K562	blood:

Variant related genes	Relation type
ENSG00000243317	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10225653	1.00[EUR][1000 genomes]
rs10246705	1.00[EUR][1000 genomes]
rs10246933	1.00[EUR][1000 genomes]
rs10255024	1.00[EUR][1000 genomes]
rs10255560	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10262164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10267971	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10272169	1.00[EUR][1000 genomes]
rs10275097	1.00[EUR][1000 genomes]
rs11489681	1.00[EUR][1000 genomes]
rs11971088	1.00[EUR][1000 genomes]
rs13438478	1.00[EUR][1000 genomes]
rs28366575	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28386845	1.00[EUR][1000 genomes]
rs28394651	0.83[AMR][1000 genomes]
rs28454188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28477975	1.00[EUR][1000 genomes]
rs28568341	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28650094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28666460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28787723	1.00[EUR][1000 genomes]
rs3778786	1.00[EUR][1000 genomes]
rs3778789	1.00[EUR][1000 genomes]
rs6467711	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467712	1.00[EUR][1000 genomes]
rs6947756	1.00[EUR][1000 genomes]
rs6963303	1.00[EUR][1000 genomes]
rs6971321	1.00[EUR][1000 genomes]
rs6971485	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6971557	1.00[EUR][1000 genomes]
rs6977485	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6977795	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706573	1.00[EUR][1000 genomes]
rs706577	1.00[EUR][1000 genomes]
rs7788632	1.00[EUR][1000 genomes]
rs7811058	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7811524	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869820	chr7:136990386-137347718	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027868	chr7:137004690-137311653	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv539134	chr7:137004690-137311653	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv1812888	chr7:137283212-137366467	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137277200-137296200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:137277200-137326800	Weak transcription	Osteobl	bone
3	chr7:137277400-137312000	Weak transcription	Brain Angular Gyrus	brain
4	chr7:137277600-137315400	Weak transcription	NH-A	brain
5	chr7:137278400-137304200	Weak transcription	Aorta	Aorta
6	chr7:137282800-137337400	Weak transcription	HSMMtube	muscle
7	chr7:137283400-137302600	Weak transcription	HSMM	muscle
8	chr7:137288000-137310800	Weak transcription	Brain Hippocampus Middle	brain
9	chr7:137288800-137296600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:137289400-137296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr7:137291200-137294800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:137291800-137297400	Weak transcription	Fetal Brain Female	brain
13	chr7:137293800-137294600	Enhancers	Placenta	Placenta
14	chr7:137293800-137294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:137293800-137294800	Enhancers	Fetal Heart	heart
16	chr7:137294000-137328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:137294200-137296200	Weak transcription	Muscle Satellite Cultured Cells	--

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