Variant report

Variant	rs4074041
Chromosome Location	chr4:79573824-79573825
allele	C/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	NFIC	chr4:79573366-79573975	ECC-1	luminal epithelium:	n/a	n/a
2	MAFK	chr4:79573688-79573934	HepG2	liver:	n/a	chr4:79573797-79573812 chr4:79573832-79573847 chr4:79573837-79573848 chr4:79573835-79573849 chr4:79573837-79573848 chr4:79573832-79573848 chr4:79573836-79573847
3	MAFK	chr4:79573688-79573841	K562	blood:	n/a	chr4:79573797-79573812
4	NFIC	chr4:79573347-79574001	ECC-1	luminal epithelium:	n/a	n/a
5	MAFK	chr4:79573794-79573984	HepG2	liver:	n/a	chr4:79573797-79573812 chr4:79573832-79573847 chr4:79573837-79573848 chr4:79573835-79573849 chr4:79573837-79573848 chr4:79573832-79573848 chr4:79573836-79573847
6	MAFF	chr4:79573708-79573908	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:79569060..79573102-chr4:79573355..79577371,7	K562	blood:
2	chr4:79571552..79573969-chr4:79585909..79589158,3	K562	blood:
3	chr4:79563449..79567560-chr4:79569303..79574487,6	K562	blood:
4	chr4:79564649..79566835-chr4:79572826..79575093,2	K562	blood:
5	chr4:79571726..79575122-chr4:79694078..79695730,3	K562	blood:
6	chr4:79573524..79575616-chr4:79695748..79697732,2	MCF-7	breast:
7	chr4:79573461..79577118-chr4:79700688..79703892,3	K562	blood:
8	chr4:79573609..79576927-chr4:79583175..79586831,3	MCF-7	breast:

Variant related genes	Relation type
HIGD1AP13	TF binding region
ENSG00000251019	Chromatin interaction
ENSG00000260278	Chromatin interaction
ENSG00000251442	Chromatin interaction
ENSG00000138756	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1466765	1.00[AMR][1000 genomes]
rs17003335	1.00[AMR][1000 genomes]
rs17003386	1.00[AMR][1000 genomes]
rs17003391	1.00[AMR][1000 genomes]
rs5943	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	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79551400-79578200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:79564400-79577200	Weak transcription	Fetal Thymus	thymus
3	chr4:79564400-79589600	Weak transcription	Lung	lung
4	chr4:79567800-79574000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:79567800-79578200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:79567800-79580400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:79567800-79583400	Weak transcription	Psoas Muscle	Psoas
8	chr4:79568000-79575600	Weak transcription	Fetal Muscle Leg	muscle
9	chr4:79568000-79578000	Enhancers	HUVEC	blood vessel
10	chr4:79568000-79582800	Weak transcription	Right Atrium	heart
11	chr4:79569600-79575400	Enhancers	NHDF-Ad	bronchial
12	chr4:79570400-79574800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr4:79570600-79574200	Enhancers	NHLF	lung
14	chr4:79570800-79574200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:79571000-79576400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:79571000-79576600	Enhancers	Osteobl	bone
17	chr4:79571200-79574200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:79571800-79574800	Weak transcription	Placenta	Placenta
19	chr4:79571800-79574800	Weak transcription	NH-A	brain
20	chr4:79571800-79575400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:79571800-79578200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:79572000-79574200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:79572000-79574800	Weak transcription	Fetal Intestine Large	intestine
24	chr4:79572000-79575600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:79572000-79576600	Weak transcription	Spleen	Spleen
26	chr4:79572200-79574200	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr4:79572200-79574800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:79572200-79574800	Weak transcription	A549	lung
29	chr4:79572200-79578000	Enhancers	K562	blood
30	chr4:79572400-79574800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr4:79572800-79574000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:79572800-79574200	Enhancers	Fetal Lung	lung
33	chr4:79572800-79575000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:79572800-79575800	Weak transcription	Primary B cells from cord blood	blood
35	chr4:79572800-79576000	Enhancers	Brain Hippocampus Middle	brain
36	chr4:79572800-79582800	Weak transcription	Hela-S3	cervix
37	chr4:79573000-79574800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr4:79573000-79574800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:79573000-79576000	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:79573000-79576600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:79573000-79579000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:79573200-79574800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr4:79573400-79574000	Enhancers	Fetal Heart	heart
44	chr4:79573400-79574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:79573400-79575000	Enhancers	Brain Germinal Matrix	brain
46	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:79573400-79578000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:79573600-79574000	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:79573600-79574200	Enhancers	Adipose Nuclei	Adipose
50	chr4:79573600-79574200	Enhancers	Duodenum Smooth Muscle	Duodenum

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