Variant report

Variant	rs60699942
Chromosome Location	chr7:40694946-40694947
allele	C/T
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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10226881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10228522	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10240076	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10260770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10264524	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10277710	1.00[AMR][1000 genomes]
rs10282307	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1034804	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11486857	1.00[AMR][1000 genomes]
rs17171725	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171735	1.00[AMR][1000 genomes]
rs17171746	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17171754	1.00[AFR][1000 genomes]
rs2214846	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28479858	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565517	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28644197	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4492257	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955744	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6943218	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6975971	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310219	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782395	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7782411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7801001	1.00[AMR][1000 genomes]
rs9886164	1.00[AMR][1000 genomes]

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	chr7:40686400-40698200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:40690600-40698800	Weak transcription	Pancreas	Pancrea
4	chr7:40694200-40698000	Weak transcription	Aorta	Aorta
5	chr7:40694400-40696000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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