Variant report

Variant	rs73394535
Chromosome Location	chr6:24744345-24744346
allele	A/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	STAT3	chr6:24743370-24744413	MCF10A-Er-Src	breast:	n/a	chr6:24743623-24743634 chr6:24743456-24743464 chr6:24743647-24743656 chr6:24743648-24743657
2	BHLHE40	chr6:24743511-24744474	GM12878	blood:	n/a	n/a
3	MEF2A	chr6:24743343-24744578	GM12878	blood:	n/a	chr6:24744358-24744372 chr6:24744294-24744311
4	SPI1	chr6:24744224-24744496	GM12878	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
5	MTA3	chr6:24743350-24744555	GM12878	blood:	n/a	n/a
6	JUND	chr6:24743231-24744382	SK-N-SH	brain:	n/a	chr6:24743648-24743656 chr6:24743646-24743657 chr6:24743647-24743656 chr6:24743649-24743656
7	MEF2A	chr6:24744114-24744639	GM12878	blood:	n/a	chr6:24744569-24744586 chr6:24744358-24744372 chr6:24744294-24744311
8	ZNF384	chr6:24743511-24744852	GM12878	blood:	n/a	n/a
9	ATF2	chr6:24743309-24744433	GM12878	blood:	n/a	n/a
10	YY1	chr6:24743368-24744445	GM12878	blood:	n/a	chr6:24743762-24743774
11	YY1	chr6:24743270-24744427	SK-N-SH	brain:	n/a	chr6:24743762-24743774
12	CUX1	chr6:24743988-24744468	GM12878	blood:	n/a	n/a
13	RCOR1	chr6:24743452-24744558	GM12878	blood:	n/a	n/a
14	FOXM1	chr6:24743152-24744549	GM12878	blood:	n/a	n/a
15	JUND	chr6:24743225-24744416	GM12878	blood:	n/a	chr6:24743648-24743656 chr6:24743646-24743657 chr6:24743647-24743656 chr6:24743649-24743656
16	SPI1	chr6:24744160-24744561	GM12878	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
17	PML	chr6:24743313-24744533	GM12878	blood:	n/a	n/a
18	FOSL2	chr6:24743208-24744353	SK-N-SH	brain:	n/a	chr6:24743648-24743656 chr6:24743647-24743656 chr6:24743649-24743656
19	EP300	chr6:24743402-24744509	GM12878	blood:	n/a	chr6:24743647-24743656 chr6:24743618-24743632 chr6:24744375-24744389
20	JUND	chr6:24743176-24744351	SK-N-SH	brain:	n/a	chr6:24743648-24743656 chr6:24743646-24743657 chr6:24743647-24743656 chr6:24743649-24743656
21	RELA	chr6:24743355-24744393	GM12878	blood:	n/a	n/a
22	SPI1	chr6:24744252-24744475	K562	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
23	SPI1	chr6:24744180-24744572	HL-60	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
24	CEBPB	chr6:24743398-24744636	GM12878	blood:	n/a	n/a
25	SPI1	chr6:24743429-24744852	GM12878	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
26	NFIC	chr6:24743363-24744592	GM12878	blood:	n/a	n/a
27	EP300	chr6:24743191-24744385	SK-N-SH	brain:	n/a	chr6:24743647-24743656 chr6:24743618-24743632
28	MEF2C	chr6:24744007-24744551	GM12878	blood:	n/a	chr6:24744358-24744372 chr6:24744294-24744311
29	TBP	chr6:24743292-24744416	GM12878	blood:	n/a	n/a
30	MAZ	chr6:24744191-24744458	GM12878	blood:	n/a	n/a
31	SPI1	chr6:24744164-24744571	GM12891	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
32	NFIC	chr6:24743182-24744366	SK-N-SH	brain:	n/a	n/a
33	NFATC1	chr6:24743380-24744494	GM12878	blood:	n/a	n/a
34	NFIC	chr6:24743284-24744616	GM12878	blood:	n/a	n/a
35	ZNF384	chr6:24743927-24744533	K562	blood:	n/a	n/a
36	RELA	chr6:24743307-24744852	GM18505	blood:	n/a	n/a
37	REST	chr6:24744222-24744434	Hela-S3	cervix:	n/a	n/a
38	SPI1	chr6:24743831-24744605	GM12891	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
39	FOXM1	chr6:24743398-24744661	GM12878	blood:	n/a	n/a
40	RUNX3	chr6:24743379-24744575	GM12878	blood:	n/a	n/a
41	JUN	chr6:24743113-24744830	K562	blood:	n/a	chr6:24743648-24743656 chr6:24743647-24743656 chr6:24743649-24743656
42	SPI1	chr6:24744270-24744429	K562	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
43	TEAD4	chr6:24743510-24744429	K562	blood:	n/a	n/a
44	MAX	chr6:24744025-24744390	GM12878	blood:	n/a	n/a
45	ATF2	chr6:24743383-24744576	GM12878	blood:	n/a	n/a
46	EP300	chr6:24743537-24744419	GM12878	blood:	n/a	chr6:24743647-24743656 chr6:24743618-24743632 chr6:24744375-24744389
47	SPI1	chr6:24744127-24744598	HL-60	blood:	n/a	chr6:24744377-24744390 chr6:24744378-24744391 chr6:24744375-24744384
48	GATA3	chr6:24743127-24744384	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:24743658..24745182-chr6:24745680..24748426,2	K562	blood:
2	chr6:24719452..24722494-chr6:24742032..24745228,7	K562	blood:
3	chr6:24744199..24747077-chr6:24749466..24750993,2	MCF-7	breast:
4	chr6:24735694..24737854-chr6:24742539..24745038,3	K562	blood:
5	chr6:24743356..24745156-chr6:24748139..24750707,3	MCF-7	breast:
6	chr6:24744125..24746681-chr6:24774338..24776242,2	K562	blood:
7	chr6:24718517..24723025-chr6:24743523..24746212,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224164	TF binding region
ENSG00000112312	Chromatin interaction
ENSG00000224164	Chromatin interaction
ENSG00000112308	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17243599	1.00[EUR][1000 genomes]
rs17249945	1.00[EUR][1000 genomes]
rs57712597	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394508	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394540	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746100	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746108	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746281	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7746669	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv428474	chr6:24714157-24797977	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24742000-24746800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr6:24742400-24745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr6:24742800-24744400	Flanking Active TSS	GM12878-XiMat	blood
4	chr6:24743200-24745800	Enhancers	Primary B cells from peripheral blood	blood
5	chr6:24743400-24744400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:24743800-24745600	Enhancers	Primary B cells from cord blood	blood
7	chr6:24744000-24744400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:24744000-24744400	Enhancers	HUVEC	blood vessel
9	chr6:24744000-24744600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:24744000-24744600	Enhancers	NHEK	skin
11	chr6:24744000-24744800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr6:24744000-24745000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:24744000-24745000	Enhancers	HMEC	breast
14	chr6:24744000-24745000	Enhancers	NHLF	lung
15	chr6:24744000-24745600	Enhancers	Hela-S3	cervix
16	chr6:24744200-24744400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:24744200-24744600	Enhancers	Osteobl	bone
18	chr6:24744200-24744800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr6:24744200-24745000	Enhancers	NH-A	brain
20	chr6:24744200-24745000	Enhancers	NHDF-Ad	bronchial

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