Variant report

Variant	rs16880239
Chromosome Location	chr7:40688023-40688024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:40687539..40689554-chr7:40692603..40695088,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10278801	1.00[JPT][hapmap]
rs12534250	1.00[JPT][hapmap]
rs12666860	1.00[JPT][hapmap]
rs1304795	1.00[JPT][hapmap]
rs16880235	1.00[JPT][hapmap]
rs17171713	1.00[JPT][hapmap]
rs17171724	1.00[EUR][1000 genomes]
rs17171729	1.00[EUR][1000 genomes]
rs17171732	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171733	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171738	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17171751	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17171752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859706	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2024014	1.00[JPT][hapmap]
rs2051919	1.00[JPT][hapmap]
rs2108189	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2329776	1.00[JPT][hapmap]
rs3779136	1.00[JPT][hapmap]
rs4720371	1.00[JPT][hapmap]
rs4723967	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4723972	1.00[CHB][hapmap]
rs6947887	1.00[JPT][hapmap]
rs6957636	1.00[JPT][hapmap]
rs6965918	1.00[JPT][hapmap]
rs6977104	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7776976	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7784279	1.00[JPT][hapmap]
rs7789681	1.00[JPT][hapmap]
rs7809620	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030648	chr7:40218618-41032599	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv887987	chr7:40505382-40748650	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	2 gene(s)	inside rSNPs	diseases
3	nsv830971	chr7:40523075-40700172	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1025605	chr7:40623026-40789063	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv538823	chr7:40623026-40789063	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv1019833	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv538824	chr7:40649369-40767377	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv887988	chr7:40685811-40782572	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:40680600-40698000	Weak transcription	HSMMtube	muscle
2	chr7:40682200-40690400	Weak transcription	Aorta	Aorta
3	chr7:40686400-40698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:40687000-40688200	Weak transcription	NH-A	brain
5	chr7:40688000-40688400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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