Variant report

Variant	rs73114783
Chromosome Location	chr5:74037505-74037506
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	MAFK	chr5:74037279-74037564	HepG2	liver:	n/a	n/a
2	MAFF	chr5:74037264-74037560	HepG2	liver:	n/a	chr5:74037399-74037417
3	MAFK	chr5:74037266-74037539	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:74030380..74033334-chr5:74036247..74039853,3	K562	blood:

Variant related genes	Relation type
GFM2	TF binding region
ENSG00000164347	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs12108923	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12110114	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872211	0.82[AFR][1000 genomes]
rs16872254	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872290	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872303	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872322	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872334	1.00[AMR][1000 genomes]
rs16872357	1.00[AMR][1000 genomes]
rs2314938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57716237	1.00[AMR][1000 genomes]
rs58054246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58159376	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59117660	1.00[AMR][1000 genomes]
rs61547995	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114767	0.88[AFR][1000 genomes]
rs73114780	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114790	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73114800	1.00[AMR][1000 genomes]
rs73116705	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73116719	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73116732	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73116736	1.00[AMR][1000 genomes]
rs73120624	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120628	1.00[AMR][1000 genomes]
rs73120630	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120638	1.00[AMR][1000 genomes]
rs73120654	1.00[AMR][1000 genomes]
rs73120662	1.00[AMR][1000 genomes]
rs73122656	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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73982000-74061800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:73999800-74060800	Weak transcription	Pancreas	Pancrea
3	chr5:73999800-74062200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:74002600-74041200	Weak transcription	Colonic Mucosa	Colon
5	chr5:74002600-74051600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:74002600-74061800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:74008400-74047800	Strong transcription	Placenta	Placenta
8	chr5:74008400-74060200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr5:74008400-74060200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr5:74008600-74044200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:74010200-74038200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:74010200-74048000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:74010400-74059600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:74011200-74044200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:74012000-74051600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:74012200-74050400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr5:74013400-74047400	Strong transcription	Adipose Nuclei	Adipose
18	chr5:74014400-74047800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:74014400-74051600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:74015200-74048600	Weak transcription	Stomach Mucosa	stomach
21	chr5:74016400-74052400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr5:74018000-74039600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:74018000-74060800	Weak transcription	Gastric	stomach
24	chr5:74018600-74062000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr5:74018800-74049000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr5:74019200-74058600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:74019400-74042400	Weak transcription	Psoas Muscle	Psoas
28	chr5:74021400-74041000	Weak transcription	Right Ventricle	heart
29	chr5:74021600-74060800	Weak transcription	Spleen	Spleen
30	chr5:74021800-74046600	Weak transcription	Fetal Brain Male	brain
31	chr5:74022000-74040600	Weak transcription	HepG2	liver
32	chr5:74022000-74060800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr5:74022200-74041400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr5:74022800-74052000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:74023400-74047600	Strong transcription	Fetal Thymus	thymus
36	chr5:74023800-74048600	Strong transcription	Primary B cells from peripheral blood	blood
37	chr5:74024200-74049400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr5:74024800-74038400	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:74025000-74062000	Weak transcription	Aorta	Aorta
40	chr5:74027400-74052000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:74028200-74037800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr5:74028400-74038200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:74028400-74044000	Strong transcription	Dnd41	blood
44	chr5:74028600-74038800	Weak transcription	Brain Substantia Nigra	brain
45	chr5:74029600-74042200	Weak transcription	K562	blood
46	chr5:74029600-74052200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:74030000-74039000	Strong transcription	GM12878-XiMat	blood
48	chr5:74031400-74041000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr5:74031400-74042400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr5:74031400-74043000	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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