Variant report

Variant	rs855873
Chromosome Location	chr1:159047712-159047713
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	TBL1XR1	chr1:159045989-159047797	GM12878	blood:	n/a	n/a
2	RELA	chr1:159046178-159048034	GM18951	blood:	n/a	n/a
3	RELA	chr1:159046200-159047793	GM15510	blood:	n/a	n/a
4	WRNIP1	chr1:159046231-159047853	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:159046286-159047830	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:159046146-159048461	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:159046043-159048043	GM12878	blood:	n/a	n/a
8	STAT1	chr1:159046363-159048018	Hela-S3	cervix:	n/a	chr1:159047092-159047103 chr1:159046737-159046748 chr1:159047113-159047124
9	EP300	chr1:159046345-159047792	GM12878	blood:	n/a	chr1:159046703-159046712
10	NFATC1	chr1:159046493-159047732	GM12878	blood:	n/a	n/a
11	RELA	chr1:159046203-159048021	GM12891	blood:	n/a	n/a
12	BHLHE40	chr1:159047674-159048164	K562	blood:	n/a	n/a
13	BHLHE40	chr1:159046197-159047803	GM12878	blood:	n/a	n/a
14	MAX	chr1:159046559-159048062	NB4	blood:	n/a	n/a
15	TBL1XR1	chr1:159046469-159047774	K562	blood:	n/a	n/a
16	POLR2A	chr1:159045986-159047745	U87	brain:	n/a	n/a
17	POLR2A	chr1:159046040-159048183	GM12878	blood:	n/a	n/a
18	TBP	chr1:159046077-159047780	GM12878	blood:	n/a	n/a
19	RELA	chr1:159046182-159048121	GM10847	blood:	n/a	n/a
20	POLR2A	chr1:159045104-159047956	GM19099	blood:	n/a	n/a
21	CHD2	chr1:159046217-159047744	GM12878	blood:	n/a	n/a
22	RELA	chr1:159046095-159048401	GM18505	blood:	n/a	n/a
23	POLR2A	chr1:159045980-159047751	U87	brain:	n/a	n/a
24	POLR2A	chr1:159045909-159048077	Raji	blood:	n/a	n/a
25	RELA	chr1:159046294-159047930	GM19099	blood:	n/a	n/a
26	POLR2A	chr1:159046151-159047850	GM18505	blood:	n/a	n/a
27	JUND	chr1:159046541-159048010	K562	blood:	n/a	chr1:159046704-159046712 chr1:159046705-159046712 chr1:159046704-159046712
28	STAT3	chr1:159046122-159047857	GM12878	blood:	n/a	chr1:159047092-159047103 chr1:159047113-159047124 chr1:159046737-159046748
29	IRF1	chr1:159046541-159047848	K562	blood:	n/a	chr1:159046737-159046747 chr1:159046737-159046751 chr1:159046703-159046712 chr1:159046738-159046749 chr1:159046733-159046747 chr1:159046729-159046749
30	MXI1	chr1:159046143-159047931	GM12878	blood:	n/a	n/a
31	POLR2A	chr1:159045183-159048064	GM12891	blood:	n/a	n/a
32	RELA	chr1:159046268-159047934	GM12892	blood:	n/a	n/a
33	RUNX3	chr1:159046297-159047730	GM12878	blood:	n/a	n/a
34	TAL1	chr1:159046587-159048126	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:

Variant related genes	Relation type
AIM2	TF binding region
ENSG00000163554	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs2078724	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2518561	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814756	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814762	1.00[ASN][1000 genomes]
rs2814765	1.00[ASN][1000 genomes]
rs2852720	0.81[EUR][1000 genomes]
rs2852721	1.00[ASN][1000 genomes]
rs73023736	1.00[ASN][1000 genomes]
rs855869	0.93[AFR][1000 genomes]
rs855874	0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872486	chr1:158979191-159090256	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
2	chr1:159044800-159048200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr1:159046000-159048000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr1:159046200-159048000	Flanking Active TSS	K562	blood
5	chr1:159046200-159048000	Enhancers	NHDF-Ad	bronchial
6	chr1:159046200-159048200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:159046400-159049400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:159046600-159048800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr1:159046800-159049400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:159047000-159048000	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:159047000-159048000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr1:159047000-159051000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:159047200-159048200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:159047200-159048400	Flanking Active TSS	GM12878-XiMat	blood
15	chr1:159047400-159048000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr1:159047400-159048000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:159047400-159048200	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:159047400-159048200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:159047400-159048200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:159047600-159048000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:159047600-159048000	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:159047600-159048200	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:159047600-159048200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:159047600-159048400	Enhancers	Primary B cells from cord blood	blood

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