Variant report

Variant	rs6518186
Chromosome Location	chr21:45844056-45844057
allele	C/T
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	POLR2A	chr21:45843081-45844897	HL-60	blood:	n/a	n/a
2	POLR2A	chr21:45843873-45844128	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:45757926..45759640-chr21:45842063..45844693,2	MCF-7	breast:
2	chr21:45834549..45837461-chr21:45842210..45845820,3	K562	blood:
3	chr21:45733227..45735685-chr21:45842710..45845061,2	K562	blood:

Variant related genes	Relation type
TRPM2	TF binding region
ENSG00000141959	Chromatin interaction
ENSG00000160226	Chromatin interaction
ENSG00000230061	Chromatin interaction
ENSG00000232969	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1005172	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1005173	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11701102	0.84[EUR][1000 genomes]
rs13048943	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1612472	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1614122	0.90[EUR][1000 genomes]
rs1617123	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1618264	0.84[EUR][1000 genomes]
rs1618355	0.91[EUR][1000 genomes]
rs1619968	0.85[EUR][1000 genomes]
rs1785436	0.84[EUR][1000 genomes]
rs1785437	0.87[EUR][1000 genomes]
rs1785439	0.90[EUR][1000 genomes]
rs1785441	0.91[EUR][1000 genomes]
rs1785442	0.89[EUR][1000 genomes]
rs1785443	0.91[EUR][1000 genomes]
rs1785444	0.91[EUR][1000 genomes]
rs1785448	0.92[EUR][1000 genomes]
rs1785452	0.94[EUR][1000 genomes]
rs1785453	0.90[EUR][1000 genomes]
rs1785454	0.91[EUR][1000 genomes]
rs1785456	0.91[EUR][1000 genomes]
rs1785459	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1785460	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1785464	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1785468	0.83[EUR][1000 genomes]
rs1785469	0.84[EUR][1000 genomes]
rs2238722	0.96[EUR][1000 genomes]
rs2238723	0.93[EUR][1000 genomes]
rs2776378	0.92[EUR][1000 genomes]
rs2838558	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2838559	0.82[AMR][1000 genomes]
rs2847237	0.86[AMR][1000 genomes]
rs62218773	0.90[EUR][1000 genomes]
rs868493	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs915779	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs915780	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs933151	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
3	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
4	nsv459295	chr21:45629565-45849864	Genic enhancers Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
5	nsv587740	chr21:45629565-45849864	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
6	esv3361489	chr21:45669073-46013747	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
7	nsv913911	chr21:45681153-45893907	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv913918	chr21:45697755-45941566	Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
9	nsv913921	chr21:45699404-45854431	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
10	nsv913922	chr21:45699404-45893907	Genic enhancers Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS 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	55 gene(s)	inside rSNPs	diseases
11	nsv913929	chr21:45700641-45860912	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers 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	50 gene(s)	inside rSNPs	diseases
12	nsv913930	chr21:45700641-45893907	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
13	nsv913937	chr21:45709153-45865167	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
14	nsv913940	chr21:45712588-45893907	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv913941	chr21:45722442-45885589	ZNF genes & repeats Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
16	nsv1058359	chr21:45724055-45941566	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
17	nsv1065203	chr21:45731690-45941566	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
18	nsv544473	chr21:45731690-45941566	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
19	nsv913942	chr21:45740823-45941566	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
20	nsv913943	chr21:45740823-46031810	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
21	nsv1067264	chr21:45757599-45941566	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
22	nsv544474	chr21:45757599-45941566	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
23	nsv913944	chr21:45757905-45941566	Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
24	nsv587781	chr21:45764397-45867471	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1058534	chr21:45812976-45916560	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
26	nsv519245	chr21:45832912-45849135	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	nsv587801	chr21:45832912-45916560	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
28	nsv913945	chr21:45837433-45893907	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
29	nsv913946	chr21:45838632-46031810	Bivalent Enhancer ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45812800-45858200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:45815800-45874800	Weak transcription	Right Atrium	heart
3	chr21:45816600-45849800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr21:45817200-45847200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr21:45820000-45863400	Weak transcription	Primary T cells from cord blood	blood
6	chr21:45824200-45847600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:45824800-45844800	Weak transcription	Colonic Mucosa	Colon
8	chr21:45826400-45857000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr21:45829400-45846600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr21:45833400-45847800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr21:45836200-45847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:45838200-45844800	Weak transcription	Placenta	Placenta
13	chr21:45839200-45846200	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr21:45839200-45847000	Weak transcription	Fetal Thymus	thymus
15	chr21:45839800-45857600	Weak transcription	Gastric	stomach
16	chr21:45839800-45860600	Weak transcription	Thymus	Thymus
17	chr21:45839800-45866200	Weak transcription	Brain Angular Gyrus	brain
18	chr21:45840000-45845000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr21:45840200-45847200	Weak transcription	Brain Anterior Caudate	brain
20	chr21:45840800-45847800	Weak transcription	Esophagus	oesophagus
21	chr21:45843000-45844800	Enhancers	Primary B cells from peripheral blood	blood
22	chr21:45843200-45844800	Enhancers	Primary B cells from cord blood	blood
23	chr21:45843400-45846600	Genic enhancers	Spleen	Spleen
24	chr21:45843600-45844600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr21:45843800-45844200	ZNF genes & repeats	Lung	lung
26	chr21:45843800-45847400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr21:45844000-45845000	Weak transcription	Adipose Nuclei	Adipose

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