Variant report

Variant	rs60482411
Chromosome Location	chr7:117484160-117484161
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	7:115861595-115870968..7:117472637-117491176	Hela-S3	cervix:
2	7:115890993-115892266..7:117472637-117491176	Hela-S3	cervix:
3	chr7:117459624..117461151-chr7:117483935..117486786,2	K562	blood:
4	7:116434729-116454408..7:117472637-117491176	H1-hESC	embryonic stem cell:	embryo
5	7:116754962-116765597..7:117472637-117491176	Hela-S3	cervix:
6	7:117100350-117112126..7:117472637-117491176	Hela-S3	cervix:
7	7:116728195-116740907..7:117472637-117491176	Hela-S3	cervix:
8	7:116307511-116321259..7:117472637-117491176	Hela-S3	cervix:
9	7:116849860-116864942..7:117472637-117491176	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000226367	Chromatin interaction
ENSG00000105976	Chromatin interaction
ENSG00000135269	Chromatin interaction
ENSG00000198898	Chromatin interaction
ENSG00000001626	Chromatin interaction
ENSG00000004866	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs34577885	1.00[AMR][1000 genomes]
rs58929081	1.00[AMR][1000 genomes]
rs59458875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60320365	1.00[AMR][1000 genomes]
rs61112731	1.00[AMR][1000 genomes]
rs61689363	1.00[AMR][1000 genomes]
rs6971315	1.00[AMR][1000 genomes]
rs73473623	1.00[AMR][1000 genomes]
rs73473631	1.00[AMR][1000 genomes]
rs73475488	1.00[AMR][1000 genomes]
rs73716254	1.00[AMR][1000 genomes]
rs73716257	1.00[AMR][1000 genomes]
rs73716277	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716362	1.00[AMR][1000 genomes]
rs73716363	1.00[AMR][1000 genomes]
rs73716371	1.00[AMR][1000 genomes]
rs73716373	1.00[AMR][1000 genomes]
rs7800091	1.00[AMR][1000 genomes]
rs7800204	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869971	chr7:117420583-118274149	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117469000-117503600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:117469400-117503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:117469600-117511800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:117469800-117493800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:117470800-117493800	Weak transcription	Fetal Brain Male	brain
6	chr7:117470800-117495200	Weak transcription	Brain Germinal Matrix	brain
7	chr7:117475600-117496000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:117475600-117496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:117475600-117506600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:117475800-117489200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:117476000-117484200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:117476000-117489200	Weak transcription	Brain Substantia Nigra	brain
13	chr7:117476000-117501000	Weak transcription	Fetal Stomach	stomach
14	chr7:117476200-117484600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:117476200-117489400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr7:117476200-117489600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:117476200-117497200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:117477000-117489600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:117478400-117489400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr7:117478400-117502600	Weak transcription	Pancreas	Pancrea
21	chr7:117481600-117502000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:117482200-117495200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:117483000-117485200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:117483000-117489200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:117483200-117485800	Strong transcription	Fetal Lung	lung
26	chr7:117483800-117484400	ZNF genes & repeats	Brain Hippocampus Middle	brain
27	chr7:117483800-117485000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:117483800-117485200	Strong transcription	Fetal Brain Female	brain
29	chr7:117483800-117501000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:117484000-117484200	ZNF genes & repeats	Fetal Kidney	kidney
31	chr7:117484000-117484400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:117484000-117484400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr7:117484000-117484400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
34	chr7:117484000-117484800	ZNF genes & repeats	Aorta	Aorta
35	chr7:117484000-117485200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
36	chr7:117484000-117485400	ZNF genes & repeats	NHLF	lung

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