Variant report

Variant	rs4687843
Chromosome Location	chr3:118961002-118961003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr3:118960808-118961072	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118603243..118603893-chr3:118960392..118961051,3	MCF-7	breast:
2	chr3:118865607..118868236-chr3:118959699..118961355,2	K562	blood:
3	chr3:118948357..118951865-chr3:118958522..118961643,4	MCF-7	breast:
4	chr3:118863527..118866220-chr3:118958408..118962544,4	MCF-7	breast:
5	chr3:118960420..118962594-chr3:119040439..119042799,2	MCF-7	breast:
6	chr3:118948409..118952425-chr3:118955700..118962526,10	K562	blood:
7	chr3:118954516..118958209-chr3:118958247..118961418,8	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
B4GALT4	TF binding region
ENSG00000163424	Chromatin interaction
ENSG00000251012	Chromatin interaction
ENSG00000121578	Chromatin interaction
ENSG00000144847	Chromatin interaction
ENSG00000241155	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12690556	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12695383	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13091429	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28587867	0.80[EUR][1000 genomes]
rs28668839	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs28885082	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs59448071	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6808238	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68103027	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7628585	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9842789	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9869645	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9878996	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118959800-118961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:118960000-118962000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:118960000-118962600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr3:118960000-118964400	Weak transcription	Esophagus	oesophagus
5	chr3:118960200-118964200	Weak transcription	Psoas Muscle	Psoas
6	chr3:118960200-118964600	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:118960200-118964600	Weak transcription	Right Atrium	heart
8	chr3:118960200-118964800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:118960400-118964400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:118960400-118966200	Weak transcription	Primary T cells from cord blood	blood
11	chr3:118960600-118964400	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:118960600-118964600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:118960600-118964800	Weak transcription	Adipose Nuclei	Adipose
14	chr3:118960600-118964800	Weak transcription	Placenta	Placenta
15	chr3:118960800-118964600	Weak transcription	Stomach Mucosa	stomach
16	chr3:118961000-118964600	Weak transcription	Right Ventricle	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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