Variant report

Variant	rs4730257
Chromosome Location	chr7:78023516-78023517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10252423	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs12705419	0.83[CHD][hapmap]
rs13240379	0.85[ASN][1000 genomes]
rs2068338	0.83[CHD][hapmap]
rs36110075	0.82[ASN][1000 genomes]
rs4995005	0.86[JPT][hapmap]
rs6974690	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9641392	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9641393	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976591	1.00[CEU][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs996893	0.83[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022764	chr7:77911072-78316607	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1033518	chr7:78013657-78038797	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78010000-78024600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:78015800-78028600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:78017400-78029800	Weak transcription	Aorta	Aorta
4	chr7:78018800-78023800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:78018800-78024400	Weak transcription	Brain Anterior Caudate	brain
6	chr7:78019000-78023600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:78019000-78023800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr7:78019000-78023800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:78019000-78026600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr7:78019000-78026800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr7:78022600-78024200	Enhancers	Brain Angular Gyrus	brain
12	chr7:78022800-78023600	Enhancers	Ovary	ovary
13	chr7:78022800-78024200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:78022800-78024200	Enhancers	Brain Substantia Nigra	brain
15	chr7:78023000-78023600	Weak transcription	Left Ventricle	heart
16	chr7:78023000-78047200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:78023200-78028000	Weak transcription	Brain Hippocampus Middle	brain
18	chr7:78023400-78023600	Enhancers	Right Atrium	heart

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

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