Variant report

Variant	rs1867447
Chromosome Location	chr5:179507249-179507250
allele	A/G
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179505750..179508557-chr5:179532943..179534980,2	MCF-7	breast:
2	chr5:179497673..179499506-chr5:179506903..179509868,3	MCF-7	breast:
3	chr5:179499305..179501402-chr5:179506576..179508838,2	K562	blood:
4	chr5:179503309..179506664-chr5:179506788..179509902,3	K562	blood:
5	chr5:179505842..179508438-chr5:179517931..179520878,2	K562	blood:
6	chr5:179505484..179507567-chr5:179509835..179511460,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNF130-3	chr5:179505357-179508661	NONHSAT105668

No data

Variant related genes	Relation type
ENSG00000113269	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10041471	0.88[ASN][1000 genomes]
rs10073876	0.81[CEU][hapmap]
rs10075114	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11954181	0.81[CEU][hapmap]
rs13161042	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1348523	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34044107	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34434279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59446142	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882944	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7706876	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs9329092	0.80[CEU][hapmap]

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	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179499400-179517000	Weak transcription	Right Atrium	heart
2	chr5:179499600-179508200	Weak transcription	Right Ventricle	heart
3	chr5:179502200-179507600	Enhancers	Liver	Liver
4	chr5:179505400-179508400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:179505600-179509600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:179506200-179507600	Enhancers	Fetal Thymus	thymus
7	chr5:179506200-179507600	Bivalent Enhancer	Thymus	Thymus
8	chr5:179506400-179507600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:179506600-179507400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:179506800-179507400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:179506800-179507600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr5:179507000-179507600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr5:179507200-179507400	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr5:179507200-179507600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
15	chr5:179507200-179507800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
16	chr5:179507200-179507800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
17	chr5:179507200-179507800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
18	chr5:179507200-179507800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:179507200-179507800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr5:179507200-179508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr5:179507200-179509200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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