Variant report

Variant	rs62341162
Chromosome Location	chr5:9713641-9713642
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr5:9712278-9713988	IMR90	lung:	n/a	n/a
2	POLR2A	chr5:9712239-9714000	IMR90	lung:	n/a	n/a
3	EP300	chr5:9713438-9715541	SK-N-SH	brain:	n/a	chr5:9714004-9714013

Variant related genes	Relation type
TAS2R1	TF binding region
ENSG00000249781	TF binding region

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10036676	0.86[EUR][1000 genomes]
rs10036822	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513025	1.00[ASN][1000 genomes]
rs10513026	1.00[ASN][1000 genomes]
rs11959099	1.00[ASN][1000 genomes]
rs1508796	1.00[ASN][1000 genomes]
rs16883185	1.00[ASN][1000 genomes]
rs16883317	1.00[ASN][1000 genomes]
rs16883340	1.00[ASN][1000 genomes]
rs17264244	1.00[ASN][1000 genomes]
rs2234235	1.00[ASN][1000 genomes]
rs3913498	1.00[ASN][1000 genomes]
rs4094231	1.00[ASN][1000 genomes]
rs62342598	1.00[ASN][1000 genomes]
rs62342599	1.00[ASN][1000 genomes]
rs62342602	1.00[ASN][1000 genomes]
rs62342603	1.00[ASN][1000 genomes]
rs62342605	1.00[ASN][1000 genomes]
rs62342606	1.00[ASN][1000 genomes]
rs62342608	1.00[ASN][1000 genomes]
rs62342620	1.00[ASN][1000 genomes]
rs62342624	1.00[ASN][1000 genomes]
rs62342652	1.00[ASN][1000 genomes]
rs6894474	1.00[ASN][1000 genomes]
rs73743121	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv869120	chr5:9491731-10149255	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1023329	chr5:9543307-9731720	Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv529455	chr5:9570606-10269569	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
13	nsv1021115	chr5:9609873-9714831	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv1031121	chr5:9617702-10155550	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
15	nsv537645	chr5:9617702-10155550	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr5:9712200-9715600	Enhancers	NHLF	lung
2	chr5:9712200-9716000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:9712200-9718400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:9712400-9714400	Enhancers	NHDF-Ad	bronchial
5	chr5:9712400-9717800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:9712600-9715600	Enhancers	Brain Germinal Matrix	brain
7	chr5:9712600-9717400	Enhancers	Fetal Lung	lung
8	chr5:9713000-9713800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:9713000-9713800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr5:9713000-9713800	Enhancers	Fetal Brain Male	brain
11	chr5:9713000-9714000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:9713000-9717400	Enhancers	Fetal Muscle Leg	muscle
13	chr5:9713200-9715200	Enhancers	Fetal Brain Female	brain
14	chr5:9713200-9715400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:9713200-9715800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:9713200-9715800	Weak transcription	NH-A	brain
17	chr5:9713400-9715600	Weak transcription	Osteobl	bone
18	chr5:9713400-9716200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:9713400-9717600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:9713600-9714000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:9713600-9714400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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