Variant report

Variant	rs2120631
Chromosome Location	chr5:179507830-179507831
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 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:

(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: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1108361	0.80[ASN][1000 genomes]
rs12522115	0.83[ASN][1000 genomes]
rs12656219	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1345086	0.82[EUR][1000 genomes]
rs1867449	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1961582	0.82[ASN][1000 genomes]
rs1961583	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2009728	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2083968	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2386701	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2386704	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3828698	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4700706	0.83[ASN][1000 genomes]
rs4700855	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4700860	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4700865	0.83[ASN][1000 genomes]
rs4700866	0.83[ASN][1000 genomes]
rs4700867	0.80[ASN][1000 genomes]
rs4700868	0.81[ASN][1000 genomes]
rs6884290	0.81[ASN][1000 genomes]
rs7728341	0.80[EUR][1000 genomes]
rs8180449	0.81[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	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:16 , 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	chr5:179505400-179508400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:179505600-179509600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr5:179507200-179508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:179507200-179509200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:179507400-179509200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr5:179507600-179508000	Weak transcription	Liver	Liver
9	chr5:179507600-179508600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
10	chr5:179507600-179508800	Bivalent Enhancer	Fetal Thymus	thymus
11	chr5:179507800-179508200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr5:179507800-179508400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr5:179507800-179508400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:179507800-179508400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:179507800-179508400	Bivalent Enhancer	Thymus	Thymus
16	chr5:179507800-179511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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