Variant report

Variant	rs6782522
Chromosome Location	chr3:46458505-46458506
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46448370..46452594-chr3:46456008..46460093,7	K562	blood:
2	chr3:46447193..46451507-chr3:46453329..46458994,6	K562	blood:
3	chr3:46451682..46454304-chr3:46456370..46459250,2	K562	blood:
4	chr3:46457920..46459873-chr3:46460241..46461934,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121797	Chromatin interaction
ENSG00000223552	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1140865	1.00[EUR][1000 genomes]
rs11574428	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574429	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574434	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574435	0.84[EUR][1000 genomes]
rs11575821	0.96[EUR][1000 genomes]
rs17285324	0.81[AMR][1000 genomes]
rs2157061	1.00[EUR][1000 genomes]
rs2157062	0.98[EUR][1000 genomes]
rs2856758	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3092960	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3136535	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34291293	0.95[EUR][1000 genomes]
rs34445878	0.96[EUR][1000 genomes]
rs34971514	0.95[EUR][1000 genomes]
rs35388950	0.95[EUR][1000 genomes]
rs41490645	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4452362	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4453882	0.81[EUR][1000 genomes]
rs57093591	0.87[EUR][1000 genomes]
rs6770674	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6787972	0.98[EUR][1000 genomes]
rs6791789	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6798291	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6808835	1.00[EUR][1000 genomes]
rs762790	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7652037	0.96[EUR][1000 genomes]
rs916094	0.99[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	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:30 , 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	chr3:46456400-46458600	Enhancers	Lung	lung
5	chr3:46456600-46458600	Enhancers	Fetal Thymus	thymus
6	chr3:46456600-46469400	Weak transcription	Right Atrium	heart
7	chr3:46456800-46458600	Enhancers	K562	blood
8	chr3:46456800-46458800	Enhancers	Fetal Intestine Small	intestine
9	chr3:46456800-46459200	Enhancers	Fetal Intestine Large	intestine
10	chr3:46457000-46458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:46457200-46458600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:46457400-46458600	Enhancers	Right Ventricle	heart
13	chr3:46457400-46458800	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:46457400-46459200	Enhancers	Dnd41	blood
15	chr3:46457400-46459600	Enhancers	Left Ventricle	heart
16	chr3:46457600-46458600	Enhancers	Primary T cells from cord blood	blood
17	chr3:46457600-46458600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:46457800-46459200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:46458000-46458600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:46458000-46459000	Weak transcription	Spleen	Spleen
21	chr3:46458000-46459400	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr3:46458000-46459400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr3:46458200-46458600	Enhancers	Duodenum Mucosa	Duodenum
24	chr3:46458200-46458600	Enhancers	Psoas Muscle	Psoas
25	chr3:46458200-46463400	Weak transcription	Primary B cells from cord blood	blood
26	chr3:46458400-46458600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr3:46458400-46458800	Flanking Active TSS	Fetal Heart	heart
28	chr3:46458400-46459400	Weak transcription	Stomach Mucosa	stomach
29	chr3:46458400-46460600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:46458400-46464000	Weak transcription	Rectal Mucosa Donor 31	rectum

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