Variant report

Variant	rs574671098
Chromosome Location	chr5:43542455-43542456
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43540433..43542729-chr5:43600683..43602719,2	K562	blood:
2	chr5:43541229..43543256-chr5:43600683..43602539,2	K562	blood:
3	chr5:43504115..43506398-chr5:43542097..43545068,2	MCF-7	breast:
4	chr5:43536689..43538647-chr5:43540263..43543098,2	K562	blood:
5	chr5:43539190..43540751-chr5:43541296..43543781,2	K562	blood:

Variant related genes	Relation type
ENSG00000172244	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:43523400-43551000	Strong transcription	Liver	Liver
6	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:43526000-43553200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:43526000-43554200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:43527200-43543400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:43527200-43543400	Strong transcription	Adipose Nuclei	Adipose
20	chr5:43527200-43548200	Strong transcription	HUVEC	blood vessel
21	chr5:43527200-43550400	Strong transcription	Dnd41	blood
22	chr5:43527200-43552000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr5:43527200-43552400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:43527400-43552400	Strong transcription	Hela-S3	cervix
25	chr5:43527400-43554200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:43527600-43548800	Strong transcription	HSMM	muscle
27	chr5:43527600-43550400	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:43527600-43550800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr5:43527600-43550800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:43527600-43553200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:43527600-43554400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr5:43527600-43555600	Strong transcription	Fetal Thymus	thymus
33	chr5:43527600-43556000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr5:43527800-43549000	Strong transcription	Osteobl	bone
35	chr5:43527800-43552400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:43528000-43554800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:43530200-43552000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:43532200-43552200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:43532400-43548800	Strong transcription	Placenta	Placenta
40	chr5:43532800-43552400	Strong transcription	Fetal Intestine Large	intestine
41	chr5:43532800-43554000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr5:43533000-43549000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr5:43533000-43551400	Strong transcription	Fetal Lung	lung
44	chr5:43534200-43550600	Weak transcription	Fetal Heart	heart
45	chr5:43534400-43548000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:43534400-43550400	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr5:43534600-43546800	Weak transcription	Gastric	stomach
48	chr5:43534600-43554400	Weak transcription	Aorta	Aorta
49	chr5:43534800-43545200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr5:43534800-43545200	Weak transcription	Pancreas	Pancrea

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