Variant report

Variant	rs74140555
Chromosome Location	chr1:213222635-213222636
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	TAL1	chr1:213222585-213222924	K562	blood:	n/a	n/a
2	MAFK	chr1:213222493-213222863	HepG2	liver:	n/a	chr1:213222669-213222684
3	IRF1	chr1:213222208-213222967	K562	blood:	n/a	n/a
4	MAFK	chr1:213222542-213222818	Hela-S3	cervix:	n/a	chr1:213222669-213222684
5	MAFK	chr1:213222439-213223047	K562	blood:	n/a	chr1:213222669-213222684
6	JUND	chr1:213222242-213223063	K562	blood:	n/a	n/a
7	ARID3A	chr1:213222217-213223028	K562	blood:	n/a	chr1:213222272-213222288 chr1:213222273-213222289
8	CEBPB	chr1:213222622-213223109	A549	lung:	n/a	chr1:213222850-213222861 chr1:213222849-213222862
9	TBL1XR1	chr1:213222335-213223028	K562	blood:	n/a	n/a
10	RCOR1	chr1:213222541-213223009	K562	blood:	n/a	n/a
11	JUN	chr1:213222204-213225592	K562	blood:	n/a	chr1:213225115-213225123 chr1:213225114-213225124 chr1:213225115-213225122 chr1:213225114-213225124 chr1:213225114-213225124 chr1:213222847-213222860 chr1:213225114-213225124 chr1:213225115-213225123
12	MAFK	chr1:213222507-213222852	HepG2	liver:	n/a	chr1:213222669-213222684
13	MAFK	chr1:213222385-213222872	IMR90	lung:	n/a	chr1:213222669-213222684
14	CEBPB	chr1:213222466-213223076	K562	blood:	n/a	chr1:213222850-213222861 chr1:213222849-213222862
15	MAFF	chr1:213222508-213222864	HepG2	liver:	n/a	chr1:213222667-213222685
16	FOS	chr1:213222506-213222958	MCF10A-Er-Src	breast:	n/a	n/a
17	EP300	chr1:213222242-213223048	K562	blood:	n/a	chr1:213222923-213222937
18	IRF1	chr1:213222456-213222955	K562	blood:	n/a	n/a
19	BACH1	chr1:213222455-213223054	K562	blood:	n/a	n/a
20	BACH1	chr1:213222489-213222881	H1-hESC	embryonic stem cell:	n/a	n/a
21	MAFF	chr1:213222405-213222964	K562	blood:	n/a	chr1:213222667-213222685
22	NFE2	chr1:213222497-213222841	K562	blood:	n/a	chr1:213222669-213222684
23	CBX3	chr1:213222414-213223214	K562	blood:	n/a	n/a
24	CEBPB	chr1:213222504-213223138	K562	blood:	n/a	chr1:213222850-213222861 chr1:213222849-213222862
25	MAFK	chr1:213222499-213222836	H1-hESC	embryonic stem cell:	n/a	chr1:213222669-213222684
26	ATF3	chr1:213222434-213223080	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213193531..213195927-chr1:213219938..213222851,2	K562	blood:

Variant related genes	Relation type
RPS6KC1	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17020073	1.00[AMR][1000 genomes]
rs17020325	1.00[AMR][1000 genomes]
rs35494356	1.00[AMR][1000 genomes]
rs55900853	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57998386	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60147631	1.00[AMR][1000 genomes]
rs60170453	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61547363	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139107	1.00[AMR][1000 genomes]
rs74140541	1.00[AMR][1000 genomes]
rs74140549	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74140559	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7520957	1.00[AMR][1000 genomes]
rs7533477	0.91[AFR][1000 genomes];1.00[AMR][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	nsv1008594	chr1:213110654-213236750	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213219200-213224000	Weak transcription	Fetal Intestine Large	intestine
2	chr1:213219600-213222800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:213220000-213223800	Weak transcription	Fetal Intestine Small	intestine
4	chr1:213222000-213224200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:213222200-213222800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr1:213222200-213223000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:213222200-213223000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:213222400-213223000	Flanking Active TSS	K562	blood
9	chr1:213222400-213223200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr1:213222400-213223200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:213222400-213223200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:213222400-213223800	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:213222400-213224000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:213222600-213222800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:213222600-213223000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:213222600-213223800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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