Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:206155021-206155495	H1-hESC	embryonic stem cell:	n/a	chr2:206155275-206155284
2	EP300	chr2:206155032-206155467	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PARD3B	TF binding region

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11677344	0.86[EUR][1000 genomes]
rs11677715	0.89[EUR][1000 genomes]
rs11686569	0.94[EUR][1000 genomes]
rs11690400	1.00[EUR][1000 genomes]
rs16837232	0.89[EUR][1000 genomes]
rs16837234	0.89[EUR][1000 genomes]
rs16837235	0.83[EUR][1000 genomes]
rs17199190	0.89[EUR][1000 genomes]
rs17200062	0.89[EUR][1000 genomes]
rs17251602	0.80[EUR][1000 genomes]
rs17265864	0.89[EUR][1000 genomes]
rs17266866	0.89[EUR][1000 genomes]
rs1849225	0.89[EUR][1000 genomes]
rs1921806	0.86[EUR][1000 genomes]
rs62171471	0.94[EUR][1000 genomes]
rs62171473	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171474	0.94[EUR][1000 genomes]
rs62171476	0.94[EUR][1000 genomes]
rs62171477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171478	0.94[EUR][1000 genomes]
rs62171479	0.94[EUR][1000 genomes]
rs62171481	0.94[EUR][1000 genomes]
rs62171482	0.89[EUR][1000 genomes]
rs62171498	0.89[EUR][1000 genomes]
rs62171499	0.89[EUR][1000 genomes]
rs62171500	0.89[EUR][1000 genomes]
rs62171501	0.89[EUR][1000 genomes]
rs62171502	0.89[EUR][1000 genomes]
rs62171503	0.89[EUR][1000 genomes]
rs62171504	0.89[EUR][1000 genomes]
rs62171505	0.89[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	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206097200-206170600	Weak transcription	HSMMtube	muscle
2	chr2:206118200-206156600	Weak transcription	Aorta	Aorta
3	chr2:206138800-206162200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:206149000-206156800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:206149400-206158200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:206149400-206160000	Weak transcription	Psoas Muscle	Psoas
7	chr2:206149600-206158200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:206153000-206165800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:206154200-206155800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:206154200-206168200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:206154600-206155200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr2:206154600-206156000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:206154600-206165800	Weak transcription	Ovary	ovary
14	chr2:206154800-206155400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr2:206154800-206155800	Enhancers	H1 Cell Line	embryonic stem cell

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