Variant report

Variant	rs73753604
Chromosome Location	chr5:43704231-43704232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43699359..43701874-chr5:43702019..43704715,3	K562	blood:
2	chr5:43693849..43696820-chr5:43701350..43704345,2	K562	blood:
3	chr5:43702507..43704578-chr5:43708855..43710724,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10050559	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10051788	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10054514	0.84[AFR][1000 genomes]
rs10055374	0.84[AFR][1000 genomes]
rs10473316	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13177579	0.80[AFR][1000 genomes]
rs13183238	0.86[AFR][1000 genomes]
rs13360905	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4380668	0.84[AFR][1000 genomes]
rs55912106	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58908791	1.00[EUR][1000 genomes]
rs62368578	0.84[AFR][1000 genomes]
rs6874715	1.00[EUR][1000 genomes]
rs6878821	0.84[AFR][1000 genomes]
rs6895383	0.80[AFR][1000 genomes]
rs6897781	1.00[EUR][1000 genomes]
rs71629192	0.84[AFR][1000 genomes]
rs73751786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73751797	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7709214	1.00[EUR][1000 genomes]
rs7718532	1.00[EUR][1000 genomes]
rs7733259	0.84[AFR][1000 genomes]
rs7736333	1.00[EUR][1000 genomes]
rs7736896	1.00[EUR][1000 genomes]
rs9292888	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9688104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
2	chr5:43659600-43710000	Weak transcription	Ovary	ovary
3	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:43675200-43711400	Weak transcription	NH-A	brain
5	chr5:43680800-43715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:43684200-43715400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr5:43684800-43714600	Weak transcription	Aorta	Aorta
8	chr5:43685800-43705800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:43686200-43711400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:43695800-43707000	Weak transcription	K562	blood
11	chr5:43695800-43711400	Weak transcription	Right Ventricle	heart
12	chr5:43696000-43707200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:43696800-43711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:43697000-43704400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:43697000-43705800	Weak transcription	Fetal Brain Female	brain
16	chr5:43697000-43705800	Weak transcription	Spleen	Spleen
17	chr5:43697000-43706000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr5:43697000-43706000	Weak transcription	Fetal Stomach	stomach
19	chr5:43697000-43706200	Weak transcription	Brain Substantia Nigra	brain
20	chr5:43697000-43706200	Weak transcription	Esophagus	oesophagus
21	chr5:43697000-43710800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:43697000-43711400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:43697000-43715000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:43697200-43711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:43698600-43707400	Weak transcription	Thymus	Thymus
26	chr5:43699200-43706000	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:43699400-43706000	Strong transcription	Primary T cells from cord blood	blood
28	chr5:43699800-43705800	Strong transcription	Dnd41	blood
29	chr5:43700000-43705200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:43700000-43705600	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr5:43700000-43706200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:43700000-43706200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr5:43700200-43705800	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr5:43700200-43706200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:43700200-43706400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:43700400-43705400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:43700400-43709200	Weak transcription	Pancreas	Pancrea
38	chr5:43700600-43711400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:43700800-43706800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:43701000-43704400	Weak transcription	Fetal Lung	lung
41	chr5:43701000-43705600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:43701200-43704800	Strong transcription	Fetal Thymus	thymus
43	chr5:43701400-43705800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr5:43701400-43706000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:43701600-43706000	Weak transcription	GM12878-XiMat	blood
46	chr5:43701600-43711600	Weak transcription	HSMMtube	muscle
47	chr5:43701800-43706200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:43701800-43709800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:43702200-43711400	Weak transcription	Placenta	Placenta
50	chr5:43702400-43704600	Strong transcription	Duodenum Mucosa	Duodenum

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