Variant report

Variant	rs34639473
Chromosome Location	chr3:143821293-143821294
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:143819810..143821704-chr3:143822907..143824829,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11924473	0.84[EUR][1000 genomes]
rs13067695	0.83[EUR][1000 genomes]
rs13068298	0.84[EUR][1000 genomes]
rs1530477	0.83[EUR][1000 genomes]
rs1530478	0.83[EUR][1000 genomes]
rs16854884	0.84[EUR][1000 genomes]
rs16854886	0.84[EUR][1000 genomes]
rs1961542	0.84[EUR][1000 genomes]
rs2370171	0.84[EUR][1000 genomes]
rs34730687	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35887108	0.84[EUR][1000 genomes]
rs58251824	0.84[EUR][1000 genomes]
rs62269933	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6784938	0.81[EUR][1000 genomes]
rs7649614	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877568	chr3:143621140-143992630	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3365190	chr3:143642195-143925886	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv591922	chr3:143645242-143825439	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1010117	chr3:143750590-144093775	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv536748	chr3:143750590-144093775	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv877569	chr3:143762420-143825439	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1010213	chr3:143775358-143863149	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv591923	chr3:143776096-143862350	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv591924	chr3:143776096-143864780	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1008414	chr3:143779087-143853396	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1009018	chr3:143797683-143868350	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv532633	chr3:143802417-144440646	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143818600-143824000	Weak transcription	Ovary	ovary
2	chr3:143819000-143823000	Weak transcription	Liver	Liver
3	chr3:143819200-143823000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:143819200-143823000	Weak transcription	Aorta	Aorta
5	chr3:143819200-143824400	Weak transcription	Pancreas	Pancrea
6	chr3:143819800-143821600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:143820800-143822000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:143821000-143821600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:143821000-143822000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr3:143821000-143822000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr3:143821000-143822200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr3:143821000-143822400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:143821000-143822400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr3:143821200-143821400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:143821200-143821400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:143821200-143821400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:143821200-143821400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:143821200-143821400	Enhancers	Rectal Smooth Muscle	rectum
19	chr3:143821200-143821800	Enhancers	Brain Substantia Nigra	brain
20	chr3:143821200-143822000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:143821200-143822000	Enhancers	Stomach Smooth Muscle	stomach
22	chr3:143821200-143822400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:143821200-143824600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr3:143821200-143824800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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