Variant report

Variant	rs7278813
Chromosome Location	chr21:15874869-15874870
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	chr21:15874304-15874876	GM12878	blood:	n/a	n/a
2	POLR2A	chr21:15874814-15875140	K562	blood:	n/a	n/a
3	POLR2A	chr21:15866790-15902261	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:15870901..15873770-chr21:15873802..15877193,3	K562	blood:

Variant related genes	Relation type
SAMSN1	TF binding region
ENSG00000155307	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2822561	1.00[JPT][hapmap]
rs2822570	1.00[JPT][hapmap]
rs56689123	1.00[ASN][1000 genomes]
rs57061183	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57285749	1.00[ASN][1000 genomes]
rs57460587	1.00[ASN][1000 genomes]
rs58907859	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58995566	1.00[ASN][1000 genomes]
rs59196713	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60267968	1.00[ASN][1000 genomes]
rs61244737	1.00[ASN][1000 genomes]
rs7275458	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73344129	0.82[AFR][1000 genomes]
rs73344137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73344139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73344153	0.81[AMR][1000 genomes]
rs8127259	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8127264	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8131133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8131835	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8131837	1.00[ASN][1000 genomes]
rs8133615	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9977981	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063703	chr21:15777995-15882121	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv544375	chr21:15777995-15882121	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv544376	chr21:15855470-15948474	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1065823	chr21:15863224-15948474	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1057934	chr21:15863224-15969195	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15853200-15885800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr21:15853400-15905400	Weak transcription	HUVEC	blood vessel
3	chr21:15854800-15875600	Weak transcription	Thymus	Thymus
4	chr21:15856200-15875400	Weak transcription	Spleen	Spleen
5	chr21:15857200-15882600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr21:15861600-15881000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr21:15862600-15889400	Strong transcription	Dnd41	blood
8	chr21:15864800-15878400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr21:15864800-15881600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr21:15865000-15878600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr21:15866200-15876800	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr21:15866800-15877800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr21:15867000-15877400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:15867000-15890600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr21:15867200-15876800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr21:15867600-15875600	Strong transcription	GM12878-XiMat	blood
17	chr21:15869200-15876800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr21:15869400-15878400	Strong transcription	K562	blood
19	chr21:15870600-15875200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr21:15871000-15876800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
21	chr21:15871200-15875400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr21:15872000-15877000	Strong transcription	Primary T cells from cord blood	blood
23	chr21:15872200-15875800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr21:15872200-15876000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr21:15872800-15875800	Strong transcription	Primary hematopoietic stem cells	blood
26	chr21:15872800-15876400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr21:15872800-15876400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr21:15873200-15875600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr21:15873400-15881200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr21:15873400-15891000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr21:15873600-15875600	Weak transcription	Primary B cells from cord blood	blood
32	chr21:15874000-15875400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr21:15874200-15876800	Strong transcription	Fetal Thymus	thymus
34	chr21:15874800-15875000	Enhancers	Small Intestine	intestine
35	chr21:15874800-15877800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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