Variant report

Variant	rs6739581
Chromosome Location	chr2:189143341-189143342
allele	A/G
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	TBP	chr2:189143189-189143581	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:189143315-189143511	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr2:189143237-189143482	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189142080..189146358-chr2:189153937..189158201,5	K562	blood:

Variant related genes	Relation type
RNA5SP114	TF binding region
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11678729	0.91[AFR][1000 genomes]
rs16829915	1.00[AMR][1000 genomes]
rs16829922	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6716922	1.00[AMR][1000 genomes]
rs6721812	0.91[AFR][1000 genomes]
rs72905551	0.89[AFR][1000 genomes]
rs7577096	1.00[AMR][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189121800-189147800	Weak transcription	K562	blood
2	chr2:189142600-189143600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:189142600-189144400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr2:189142600-189144400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:189142800-189144200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:189143200-189143400	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:189143200-189143400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:189143200-189143400	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr2:189143200-189143400	Enhancers	Brain Germinal Matrix	brain
10	chr2:189143200-189143400	Enhancers	Fetal Lung	lung
11	chr2:189143200-189143600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:189143200-189143600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr2:189143200-189143600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:189143200-189143800	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:189143200-189143800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:189143200-189143800	Active TSS	Brain Inferior Temporal Lobe	brain
17	chr2:189143200-189144000	Active TSS	Aorta	Aorta
18	chr2:189143200-189144000	Enhancers	Fetal Brain Male	brain
19	chr2:189143200-189144200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:189143200-189144200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr2:189143200-189144200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:189143200-189144200	Enhancers	Fetal Brain Female	brain

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