Variant report

Variant	rs251488
Chromosome Location	chr3:142701110-142701111
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:142682070..142686174-chr3:142699444..142703436,4	K562	blood:
2	chr3:142682998..142686174-chr3:142699444..142703436,4	K562	blood:
3	chr3:142694373..142698058-chr3:142700090..142703022,3	K562	blood:
4	chr3:142699274..142702132-chr3:142719844..142723108,4	K562	blood:
5	chr3:142699207..142701682-chr3:142709605..142712109,2	K562	blood:

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

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1353887	0.81[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs251483	0.84[ASN][1000 genomes]
rs669354	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs865584	0.90[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

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142695800-142701400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr3:142695800-142705800	Weak transcription	Left Ventricle	heart
3	chr3:142696000-142705800	Weak transcription	Right Atrium	heart
4	chr3:142699000-142701600	Enhancers	A549	lung
5	chr3:142699600-142701400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr3:142699600-142704600	Enhancers	HepG2	liver
7	chr3:142699800-142701600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr3:142700000-142701600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr3:142700200-142701600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:142700200-142701600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr3:142700400-142701400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:142700400-142701400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr3:142700400-142706200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:142700600-142706200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:142700600-142706400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:142700600-142706600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:142700800-142701200	Flanking Active TSS	K562	blood
18	chr3:142700800-142701600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:142701000-142701600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr3:142701000-142701600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:142701000-142701800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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