Variant report

Variant	rs1957074
Chromosome Location	chr4:74698870-74698871
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	CEBPD	chr4:74698241-74698880	K562	blood:	n/a	n/a
2	NR2F2	chr4:74698234-74699083	K562	blood:	n/a	chr4:74698880-74698895
3	JUN	chr4:74698212-74698917	K562	blood:	n/a	chr4:74698458-74698466
4	TEAD4	chr4:74698110-74699207	K562	blood:	n/a	n/a
5	FOXA1	chr4:74698732-74699056	HepG2	liver:	n/a	n/a
6	EP300	chr4:74698254-74698935	K562	blood:	n/a	n/a
7	MYC	chr4:74698286-74699048	K562	blood:	n/a	n/a
8	MAFK	chr4:74698301-74698954	K562	blood:	n/a	chr4:74698547-74698561 chr4:74698608-74698624 chr4:74698544-74698564 chr4:74698610-74698619 chr4:74698609-74698623 chr4:74698610-74698620 chr4:74698605-74698620
9	CUX1	chr4:74698107-74699156	K562	blood:	n/a	n/a
10	TRIM28	chr4:74698349-74698893	K562	blood:	n/a	n/a
11	TRIM28	chr4:74698243-74699052	K562	blood:	n/a	n/a
12	NR2F2	chr4:74698287-74699036	K562	blood:	n/a	chr4:74698880-74698895
13	BHLHE40	chr4:74698338-74699246	K562	blood:	n/a	n/a
14	TAL1	chr4:74698217-74698987	K562	blood:	n/a	n/a
15	JUND	chr4:74698204-74698966	K562	blood:	n/a	chr4:74698458-74698466
16	TEAD4	chr4:74698164-74699033	K562	blood:	n/a	n/a
17	SPI1	chr4:74698559-74698976	HL-60	blood:	n/a	chr4:74698792-74698799 chr4:74698789-74698802
18	FOXA1	chr4:74698646-74698977	HepG2	liver:	n/a	n/a
19	RCOR1	chr4:74698260-74699044	K562	blood:	n/a	n/a
20	MAX	chr4:74698470-74698931	K562	blood:	n/a	n/a
21	CBX3	chr4:74698404-74699000	K562	blood:	n/a	n/a
22	CBX3	chr4:74698198-74699239	K562	blood:	n/a	n/a
23	IRF1	chr4:74698346-74698937	K562	blood:	n/a	chr4:74698705-74698714
24	ARID3A	chr4:74698184-74698915	K562	blood:	n/a	n/a
25	GATA1	chr4:74697893-74699628	K562	blood:	n/a	chr4:74698501-74698510 chr4:74698497-74698513
26	PML	chr4:74698244-74698875	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74697766..74699657-chr4:74903012..74905803,2	K562	blood:
2	chr4:74696829..74699288-chr4:75022535..75024301,2	K562	blood:

Variant related genes	Relation type
CXCL6	TF binding region
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction
ENSG00000163734	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16849934	1.00[MEX][hapmap]
rs16850008	0.83[AMR][1000 genomes]
rs2208468	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs41343544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72853821	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72867182	0.83[AMR][1000 genomes]
rs7699027	0.83[AMR][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74695200-74701800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:74695400-74702000	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr4:74697000-74699000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr4:74697200-74699000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:74697200-74699000	Enhancers	HSMMtube	muscle
6	chr4:74697200-74699400	Enhancers	NHDF-Ad	bronchial
7	chr4:74697200-74699400	Enhancers	Osteobl	bone
8	chr4:74697400-74699600	Enhancers	HMEC	breast
9	chr4:74697800-74699000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:74697800-74699000	Enhancers	NHLF	lung
11	chr4:74697800-74699200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:74697800-74699200	Enhancers	NH-A	brain
13	chr4:74697800-74699400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:74697800-74699400	Enhancers	HSMM	muscle
15	chr4:74697800-74699800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr4:74697800-74699800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:74697800-74699800	Enhancers	K562	blood
18	chr4:74697800-74699800	Enhancers	NHEK	skin
19	chr4:74698000-74699200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:74698000-74699400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:74698000-74699400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:74698000-74699800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:74698200-74699400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr4:74698200-74699400	Enhancers	Dnd41	blood
25	chr4:74698600-74699200	Enhancers	Hela-S3	cervix
26	chr4:74698600-74699200	Enhancers	HepG2	liver
27	chr4:74698600-74699400	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:74698800-74701800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:74698800-74702000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:74698800-74702200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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