Variant report

Variant	rs42381
Chromosome Location	chr3:142695001-142695002
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142685155..142687473-chr3:142694018..142697111,4	K562	blood:
2	chr3:142670834..142673882-chr3:142694771..142697300,3	K562	blood:
3	chr3:142677692..142680689-chr3:142694662..142696249,2	K562	blood:
4	chr3:142687733..142690904-chr3:142694108..142697012,4	K562	blood:
5	chr3:142687639..142690486-chr3:142692515..142696128,4	K562	blood:
6	chr3:142568326..142570588-chr3:142694466..142696340,2	MCF-7	breast:
7	chr3:142692398..142697011-chr3:142719023..142723463,5	MCF-7	breast:
8	chr3:142297588..142299438-chr3:142694244..142697127,2	K562	blood:
9	chr3:142675836..142678410-chr3:142694530..142697291,2	MCF-7	breast:
10	chr3:142694373..142698058-chr3:142700090..142703022,3	K562	blood:
11	chr3:142671255..142673627-chr3:142694545..142697300,2	K562	blood:
12	chr3:142677692..142680689-chr3:142694099..142696249,3	K562	blood:
13	chr3:142680815..142687473-chr3:142694018..142698711,9	K562	blood:
14	chr3:142694636..142697933-chr3:142718362..142721852,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188582	Chromatin interaction
ENSG00000241570	Chromatin interaction
ENSG00000175054	Chromatin interaction
ENSG00000241592	Chromatin interaction
ENSG00000268129	Chromatin interaction
ENSG00000163714	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs185182	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs251491	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs251492	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36284	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36285	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs40160	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]

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	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv877563	chr3:142661350-142743889	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs42381	SR140	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142691200-142695200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr3:142691400-142695600	Weak transcription	Right Atrium	heart
3	chr3:142691800-142695200	Enhancers	A549	lung
4	chr3:142692600-142695200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:142692600-142696400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr3:142692800-142695400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:142693600-142695400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:142693600-142695400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:142693600-142695600	Weak transcription	Psoas Muscle	Psoas
10	chr3:142693800-142695200	Weak transcription	Fetal Heart	heart
11	chr3:142694000-142695600	Weak transcription	HSMMtube	muscle
12	chr3:142694200-142695400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:142694200-142696400	Enhancers	Hela-S3	cervix
14	chr3:142694200-142699800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr3:142694400-142695400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr3:142694400-142695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:142694400-142696400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:142694400-142696400	Enhancers	HepG2	liver
19	chr3:142694600-142695400	Weak transcription	Left Ventricle	heart
20	chr3:142694800-142695200	Weak transcription	K562	blood
21	chr3:142694800-142695600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:142694800-142696200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:142695000-142695400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:142695000-142696200	Enhancers	Muscle Satellite Cultured Cells	--

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