Variant report

Variant	rs73751742
Chromosome Location	chr5:43552799-43552800
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43513317..43519979-chr5:43552519..43558793,19	K562	blood:
2	chr5:43512478..43519226-chr5:43552704..43558861,10	MCF-7	breast:
3	chr5:43552652..43554518-chr5:43592986..43594640,2	K562	blood:
4	chr5:43531285..43533909-chr5:43551302..43554401,3	K562	blood:
5	chr5:43551318..43553577-chr5:43601247..43603136,2	K562	blood:
6	chr5:43482574..43484301-chr5:43550900..43553223,2	K562	blood:
7	chr5:43482543..43484624-chr5:43552279..43554003,2	MCF-7	breast:
8	chr5:43552178..43554497-chr5:43589226..43592032,2	K562	blood:
9	chr5:43482801..43486073-chr5:43545843..43553223,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000151881	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000248240	Chromatin interaction
ENSG00000172244	Chromatin interaction
ENSG00000112992	Chromatin interaction
ENSG00000172239	Chromatin interaction
ENSG00000249492	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs966965	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	esv1835057	chr5:43515280-43557405	Active TSS Flanking Active TSS Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	esv1835614	chr5:43515280-43561759	Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	esv1837000	chr5:43515280-43561759	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	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
7	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
13	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
14	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr5:43534600-43554400	Weak transcription	Aorta	Aorta
18	chr5:43534800-43554000	Weak transcription	Right Ventricle	heart
19	chr5:43535000-43553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:43538000-43553600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:43538800-43554600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:43539800-43554200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr5:43541000-43554200	Weak transcription	Stomach Mucosa	stomach
24	chr5:43542800-43556000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:43542800-43556000	Weak transcription	Esophagus	oesophagus
26	chr5:43544400-43554200	Strong transcription	Primary B cells from cord blood	blood
27	chr5:43544400-43554200	Strong transcription	NHLF	lung
28	chr5:43547600-43555200	Weak transcription	Colonic Mucosa	Colon
29	chr5:43547800-43553200	Weak transcription	Small Intestine	intestine
30	chr5:43547800-43553800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:43547800-43554200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:43547800-43554800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr5:43547800-43556000	Weak transcription	Gastric	stomach
34	chr5:43548000-43553600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr5:43548000-43554000	Weak transcription	Pancreas	Pancrea
36	chr5:43548000-43554200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr5:43548000-43554400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:43548000-43555200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:43548000-43556000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:43548200-43552800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr5:43548200-43553200	Weak transcription	Thymus	Thymus
42	chr5:43548200-43555200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr5:43548400-43554200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:43548800-43553600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:43548800-43554000	Weak transcription	HSMMtube	muscle
46	chr5:43548800-43554800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:43549000-43553000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:43549400-43554000	Strong transcription	HUVEC	blood vessel
49	chr5:43549600-43554000	Weak transcription	Left Ventricle	heart
50	chr5:43549600-43555400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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