Variant report

Variant	rs59984060
Chromosome Location	chr3:142527984-142527985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142526371..142529664-chr3:142531134..142533602,3	K562	blood:
2	chr3:142524560..142526927-chr3:142527541..142530171,3	K562	blood:
3	chr3:142517462..142521813-chr3:142523317..142528126,6	K562	blood:
4	chr3:142517462..142519257-chr3:142525193..142528126,2	K562	blood:
5	chr3:142526371..142529815-chr3:142530861..142533602,4	K562	blood:

Variant related genes	Relation type
ENSG00000251787	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16852615	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2883546	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs41265483	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4541445	0.84[ASN][1000 genomes]
rs57139089	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6784134	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7622662	0.84[AFR][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	nsv1000631	chr3:142516367-142572058	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
2	chr3:142490200-142529400	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:142499400-142547800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr3:142501800-142528000	Weak transcription	Left Ventricle	heart
5	chr3:142501800-142535600	Weak transcription	Aorta	Aorta
6	chr3:142502000-142529400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:142514800-142572000	Weak transcription	Right Ventricle	heart
8	chr3:142515000-142530800	Weak transcription	HSMM	muscle
9	chr3:142519000-142572000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:142519800-142530000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr3:142521400-142528800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:142522200-142551800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:142522400-142530000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:142522800-142528600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:142523000-142528200	Weak transcription	Ovary	ovary
16	chr3:142523800-142539400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr3:142524000-142528600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:142524000-142530600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:142524000-142531400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:142524800-142561000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:142525000-142538600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr3:142525000-142543800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr3:142525000-142555800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:142525200-142539000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:142526600-142529200	Strong transcription	Adipose Nuclei	Adipose
26	chr3:142526600-142534800	Weak transcription	Liver	Liver
27	chr3:142526800-142528200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:142527200-142528400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:142527400-142528200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:142527400-142529000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr3:142527600-142547400	Weak transcription	A549	lung

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