Variant report

Variant	rs4349723
Chromosome Location	chr5:43527883-43527884
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43527365..43529512-chr5:43530585..43533160,3	MCF-7	breast:
2	chr5:43482304..43485301-chr5:43526863..43529089,3	K562	blood:
3	chr5:43525848..43528623-chr5:43555974..43557741,2	MCF-7	breast:
4	chr5:43526757..43528900-chr5:43534706..43537626,2	MCF-7	breast:
5	chr5:43512176..43517404-chr5:43524173..43528401,5	K562	blood:
6	chr5:43523885..43526078-chr5:43527062..43529284,2	K562	blood:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10068354	1.00[AMR][1000 genomes]
rs4318791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4444984	1.00[AMR][1000 genomes]
rs4463185	1.00[AMR][1000 genomes]
rs4481352	1.00[AMR][1000 genomes]
rs4515308	1.00[AMR][1000 genomes]
rs6451715	1.00[AMR][1000 genomes]
rs7717171	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43515600-43533800	Weak transcription	Small Intestine	intestine
2	chr5:43515600-43534000	Weak transcription	Esophagus	oesophagus
3	chr5:43516000-43528000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:43516000-43528200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:43516000-43529400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:43516000-43533800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:43516000-43534000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:43516200-43528000	Weak transcription	Colonic Mucosa	Colon
9	chr5:43516200-43528200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:43516200-43528200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:43516200-43532800	Weak transcription	Fetal Heart	heart
12	chr5:43516200-43533600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:43516200-43534200	Weak transcription	Stomach Mucosa	stomach
14	chr5:43516400-43528000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr5:43516400-43534000	Weak transcription	Pancreas	Pancrea
16	chr5:43520600-43529400	Weak transcription	Fetal Intestine Small	intestine
17	chr5:43522200-43534000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:43523200-43550600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:43523200-43551600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:43523200-43551800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:43523200-43552200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:43523400-43551000	Strong transcription	Liver	Liver
23	chr5:43523400-43553600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr5:43523400-43554600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr5:43523600-43551000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr5:43523600-43554200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr5:43524000-43540200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr5:43524000-43555200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr5:43524200-43539600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr5:43524200-43553600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr5:43524600-43530200	Weak transcription	Psoas Muscle	Psoas
32	chr5:43524600-43533800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:43524800-43529400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr5:43524800-43529400	Weak transcription	Fetal Stomach	stomach
35	chr5:43524800-43553600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr5:43525000-43531400	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr5:43525000-43552400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:43525200-43548600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr5:43525400-43553400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr5:43525600-43541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:43525800-43528000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr5:43525800-43528200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr5:43525800-43528200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr5:43525800-43528200	Weak transcription	HSMMtube	muscle
45	chr5:43525800-43530200	Weak transcription	Brain Germinal Matrix	brain
46	chr5:43526000-43528000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:43526000-43528000	Weak transcription	Primary B cells from cord blood	blood
48	chr5:43526000-43528000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr5:43526000-43528000	Weak transcription	Brain Anterior Caudate	brain
50	chr5:43526000-43528000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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