Variant report

Variant	rs41264459
Chromosome Location	chr1:159046610-159046611
allele	G/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	TEAD4	chr1:159046487-159047617	K562	blood:	n/a	n/a
2	SIN3A	chr1:159046164-159047290	GM12878	blood:	n/a	n/a
3	POLR2A	chr1:159046248-159047629	U87	brain:	n/a	n/a
4	PBX3	chr1:159046460-159047425	SK-N-SH	brain:	n/a	n/a
5	TCF3	chr1:159046531-159047056	GM12878	blood:	n/a	n/a
6	GATA3	chr1:159046493-159047189	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr1:159046218-159047553	GM15510	blood:	n/a	n/a
8	CCNT2	chr1:159046524-159047434	K562	blood:	n/a	n/a
9	ELF1	chr1:159046275-159047457	GM12878	blood:	n/a	n/a
10	BCLAF1	chr1:159046183-159047596	GM12878	blood:	n/a	n/a
11	TAF1	chr1:159046386-159046808	GM12878	blood:	n/a	n/a
12	MYC	chr1:159046413-159047593	NB4	blood:	n/a	n/a
13	TBP	chr1:159046600-159047534	K562	blood:	n/a	n/a
14	HDAC2	chr1:159046585-159047156	K562	blood:	n/a	n/a
15	CEBPB	chr1:159046406-159047674	GM12878	blood:	n/a	n/a
16	YY1	chr1:159046169-159046857	GM12878	blood:	n/a	chr1:159046294-159046310
17	POLR2A	chr1:159046222-159047580	GM18951	blood:	n/a	n/a
18	POLR2A	chr1:159046083-159047593	GM12892	blood:	n/a	n/a
19	SP1	chr1:159046603-159047394	K562	blood:	n/a	n/a
20	MAX	chr1:159046130-159047502	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:159046263-159047436	K562	blood:	n/a	n/a
22	POLR2A	chr1:159046239-159047653	GM12891	blood:	n/a	n/a
23	TBL1XR1	chr1:159045989-159047797	GM12878	blood:	n/a	n/a
24	MTA3	chr1:159046256-159047630	GM12878	blood:	n/a	n/a
25	RELA	chr1:159046339-159047619	GM12878	blood:	n/a	n/a
26	IKZF1	chr1:159046547-159047496	GM12878	blood:	n/a	n/a
27	TAF1	chr1:159046446-159046707	GM12891	blood:	n/a	n/a
28	JUN	chr1:159046540-159047366	K562	blood:	n/a	chr1:159046704-159046712 chr1:159046705-159046712 chr1:159046704-159046712
29	RCOR1	chr1:159046509-159047574	K562	blood:	n/a	n/a
30	STAT5A	chr1:159046322-159047605	GM12878	blood:	n/a	chr1:159046737-159046748
31	BCL11A	chr1:159046394-159047507	GM12878	blood:	n/a	n/a
32	BATF	chr1:159046282-159047624	GM12878	blood:	n/a	n/a
33	RELA	chr1:159046178-159048034	GM18951	blood:	n/a	n/a
34	RELA	chr1:159046200-159047793	GM15510	blood:	n/a	n/a
35	ATF3	chr1:159046574-159047234	K562	blood:	n/a	n/a
36	WRNIP1	chr1:159046231-159047853	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:159046073-159047557	GM12892	blood:	n/a	n/a
38	EP300	chr1:159046583-159047328	SK-N-SH_RA	brain:	n/a	chr1:159046703-159046712
39	POLR2A	chr1:159046286-159047830	GM12878	blood:	n/a	n/a
40	GATA2	chr1:159046523-159047164	K562	blood:	n/a	n/a
41	POLR2A	chr1:159046146-159048461	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:159046181-159047554	GM12878	blood:	n/a	n/a
43	POLR2A	chr1:159046043-159048043	GM12878	blood:	n/a	n/a
44	TCF12	chr1:159046488-159046705	GM12878	blood:	n/a	n/a
45	STAT1	chr1:159046363-159048018	Hela-S3	cervix:	n/a	chr1:159047092-159047103 chr1:159046737-159046748 chr1:159047113-159047124
46	TAF1	chr1:159046345-159046668	GM12878	blood:	n/a	n/a
47	IRF1	chr1:159046551-159047396	K562	blood:	n/a	chr1:159046737-159046747 chr1:159046737-159046751 chr1:159046703-159046712 chr1:159046738-159046749 chr1:159046733-159046747 chr1:159046729-159046749
48	MEF2A	chr1:159046450-159047475	GM12878	blood:	n/a	chr1:159046704-159046712
49	CEBPB	chr1:159046538-159047546	K562	blood:	n/a	n/a
50	EP300	chr1:159046345-159047792	GM12878	blood:	n/a	chr1:159046703-159046712

No.	Distal block	Cell Line	Cell type
1	chr1:159042502..159045008-chr1:159045227..159046853,2	K562	blood:
2	chr1:158656464..158659384-chr1:159045094..159048407,3	K562	blood:
3	chr1:158978448..158981430-chr1:159044743..159047016,2	K562	blood:

Variant related genes	Relation type
AIM2	TF binding region
ENSG00000163554	Chromatin interaction
ENSG00000163568	Chromatin interaction
ENSG00000163565	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12131182	0.92[EUR][1000 genomes]
rs12132363	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12139815	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159038600-159056400	Weak transcription	Spleen	Spleen
2	chr1:159044200-159047200	Active TSS	GM12878-XiMat	blood
3	chr1:159044800-159047200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr1:159044800-159048200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr1:159045200-159047400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:159045400-159047600	Active TSS	Primary hematopoietic stem cells	blood
7	chr1:159046000-159048000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr1:159046200-159046800	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr1:159046200-159047000	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr1:159046200-159047200	Enhancers	Placenta	Placenta
11	chr1:159046200-159047600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:159046200-159048000	Flanking Active TSS	K562	blood
13	chr1:159046200-159048000	Enhancers	NHDF-Ad	bronchial
14	chr1:159046200-159048200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:159046400-159047000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:159046400-159047600	Active TSS	Primary B cells from cord blood	blood
17	chr1:159046400-159049400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:159046600-159046800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:159046600-159046800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:159046600-159046800	Enhancers	Esophagus	oesophagus
21	chr1:159046600-159046800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:159046600-159047000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:159046600-159047000	Active TSS	Primary T cells fromperipheralblood	blood
24	chr1:159046600-159047000	Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr1:159046600-159047000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:159046600-159047000	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr1:159046600-159047000	Flanking Active TSS	Osteobl	bone
28	chr1:159046600-159047200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:159046600-159047400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr1:159046600-159047400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr1:159046600-159047400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr1:159046600-159047400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:159046600-159048800	Enhancers	Primary monocytes fromperipheralblood	blood

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