Variant report

Variant	rs7381117
Chromosome Location	chr5:177628427-177628428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:177628426-177629341	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:177604347..177606452-chr5:177626803..177628978,2	MCF-7	breast:
2	chr5:177621142..177624086-chr5:177625603..177628449,4	MCF-7	breast:
3	chr5:177573926..177577755-chr5:177626660..177630083,3	MCF-7	breast:
4	chr5:177557985..177559547-chr5:177627553..177629113,2	K562	blood:
5	chr5:177590786..177593501-chr5:177625836..177629068,3	MCF-7	breast:

No data

Variant related genes	Relation type
HNRNPAB	TF binding region
ENSG00000145916	Chromatin interaction
ENSG00000251211	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11949084	0.80[EUR][1000 genomes]
rs17639067	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2115053	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2913753	0.83[ASN][1000 genomes]
rs9329138	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
4	nsv1017664	chr5:177578194-177633116	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
5	nsv482872	chr5:177580298-177744381	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	106 gene(s)	inside rSNPs	diseases
6	nsv1021981	chr5:177620372-177825272	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases
7	nsv537967	chr5:177620372-177825272	Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	105 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177621600-177630800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:177622200-177630200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:177622400-177630800	Weak transcription	Liver	Liver
4	chr5:177624000-177630800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:177624200-177630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:177624200-177630800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:177624400-177628800	Weak transcription	K562	blood
8	chr5:177625400-177628800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:177625400-177629600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr5:177625600-177629600	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:177626200-177628600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr5:177626200-177628600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:177626600-177629400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:177626600-177630000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr5:177626800-177628600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:177626800-177629200	Enhancers	NHEK	skin
17	chr5:177626800-177629400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:177627200-177629000	Weak transcription	Esophagus	oesophagus
19	chr5:177627400-177628600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr5:177627400-177630600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr5:177627600-177630800	Weak transcription	Fetal Lung	lung
22	chr5:177627800-177630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr5:177627800-177630800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:177628000-177629800	Enhancers	Primary hematopoietic stem cells	blood
25	chr5:177628400-177628800	Enhancers	Hela-S3	cervix
26	chr5:177628400-177629200	Enhancers	Colonic Mucosa	Colon
27	chr5:177628400-177629400	Enhancers	HMEC	breast
28	chr5:177628400-177630200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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