Variant report

Variant	rs66484806
Chromosome Location	chr3:46459490-46459491
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46448370..46452594-chr3:46456008..46460093,7	K562	blood:
2	chr3:46457920..46459873-chr3:46460241..46461934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223552	Chromatin interaction
ENSG00000121797	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11266744	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11574433	0.81[AFR][1000 genomes]
rs11575815	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11575816	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1800023	0.81[EUR][1000 genomes]
rs2187674	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2254089	0.81[EUR][1000 genomes]
rs2734225	0.81[EUR][1000 genomes]
rs2734648	0.81[EUR][1000 genomes]
rs2856764	0.81[EUR][1000 genomes]
rs2856765	0.81[EUR][1000 genomes]
rs3087252	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3181039	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3204849	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34682274	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4560336	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683220	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4683222	0.82[ASN][1000 genomes]
rs4683223	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916091	0.81[EUR][1000 genomes];0.83[ASN][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:46448600-46460000	Weak transcription	Gastric	stomach
3	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
5	chr3:46457400-46459600	Enhancers	Left Ventricle	heart
6	chr3:46458200-46463400	Weak transcription	Primary B cells from cord blood	blood
7	chr3:46458400-46460600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr3:46458400-46464000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:46458600-46463800	Weak transcription	K562	blood
10	chr3:46458600-46469400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr3:46458800-46461400	Enhancers	Fetal Heart	heart
12	chr3:46459000-46465600	Strong transcription	Spleen	Spleen
13	chr3:46459200-46459600	Weak transcription	Fetal Intestine Large	intestine
14	chr3:46459200-46460000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr3:46459200-46460000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:46459200-46460400	Enhancers	H9 Cell Line	embryonic stem cell
17	chr3:46459200-46460400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr3:46459200-46460600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:46459400-46460200	Enhancers	Right Ventricle	heart
20	chr3:46459400-46460600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr3:46459400-46463800	Weak transcription	Lung	lung
22	chr3:46459400-46465000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr3:46459400-46468600	Weak transcription	Fetal Intestine Small	intestine
24	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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