Variant report

Variant	rs73440130
Chromosome Location	chr7:69313018-69313019
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs56694288	0.82[AFR][1000 genomes]
rs57241243	1.00[AFR][1000 genomes]
rs59534094	1.00[AFR][1000 genomes]
rs60614607	0.88[AFR][1000 genomes]
rs73429426	0.87[AFR][1000 genomes]
rs73429443	0.94[AFR][1000 genomes]
rs73429444	0.94[AFR][1000 genomes]
rs73429445	0.94[AFR][1000 genomes]
rs73429447	0.94[AFR][1000 genomes]
rs73429449	0.94[AFR][1000 genomes]
rs73429456	0.82[AFR][1000 genomes]
rs73429468	0.88[AFR][1000 genomes]
rs73432138	0.82[AFR][1000 genomes]
rs73432140	0.82[AFR][1000 genomes]
rs73438181	1.00[AFR][1000 genomes]
rs73438192	1.00[AFR][1000 genomes]
rs73440124	0.94[AFR][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	nsv916011	chr7:68942155-69330800	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv831021	chr7:69122169-69364491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1021538	chr7:69130236-69575753	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv538917	chr7:69130236-69575753	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv817276	chr7:69130237-69736834	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1018749	chr7:69149029-69995112	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv532781	chr7:69297250-69330796	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:69311000-69313200	Weak transcription	Brain Hippocampus Middle	brain
2	chr7:69311000-69320800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:69311400-69371600	Weak transcription	Primary B cells from cord blood	blood
4	chr7:69311600-69315400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:69311600-69323600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:69312200-69313600	Enhancers	Colon Smooth Muscle	Colon
7	chr7:69312400-69313400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:69312400-69313800	Enhancers	Fetal Brain Female	brain
9	chr7:69312600-69313600	Enhancers	Brain Germinal Matrix	brain
10	chr7:69312600-69314000	Enhancers	Ovary	ovary
11	chr7:69312800-69313600	Enhancers	Fetal Kidney	kidney
12	chr7:69312800-69313600	Enhancers	Dnd41	blood
13	chr7:69312800-69313800	Enhancers	Fetal Lung	lung
14	chr7:69313000-69313200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
15	chr7:69313000-69313400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:69313000-69314000	Enhancers	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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