Variant report

Variant	rs7608913
Chromosome Location	chr2:209272595-209272596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209272355..209272894-chr2:210288192..210288878,2	MCF-7	breast:
2	chr2:209272192..209273114-chr2:210195894..210196720,4	MCF-7	breast:
3	chr2:209272349..209272991-chr2:210288157..210288993,2	MCF-7	breast:
4	chr2:209272322..209273071-chr2:210072607..210073525,2	K562	blood:

Variant related genes	Relation type
ENSG00000078018	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10193961	1.00[ASN][1000 genomes]
rs10206991	1.00[ASN][1000 genomes]
rs1080646	1.00[ASN][1000 genomes]
rs11891163	0.84[AMR][1000 genomes]
rs11897777	1.00[ASN][1000 genomes]
rs11902124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259699	1.00[ASN][1000 genomes]
rs1259700	1.00[ASN][1000 genomes]
rs12991283	0.84[AMR][1000 genomes]
rs12998277	0.84[AMR][1000 genomes]
rs13395035	0.84[AMR][1000 genomes]
rs13397965	1.00[ASN][1000 genomes]
rs13400356	0.84[AMR][1000 genomes]
rs16841239	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16841294	1.00[ASN][1000 genomes]
rs17699982	0.80[AMR][1000 genomes]
rs17718694	1.00[ASN][1000 genomes]
rs28885800	0.84[AMR][1000 genomes]
rs34259292	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35217101	0.84[AMR][1000 genomes]
rs35293936	0.84[AMR][1000 genomes]
rs61082488	1.00[ASN][1000 genomes]
rs61193569	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66521274	1.00[ASN][1000 genomes]
rs66700780	1.00[ASN][1000 genomes]
rs6716615	1.00[ASN][1000 genomes]
rs67168689	1.00[ASN][1000 genomes]
rs6717082	1.00[ASN][1000 genomes]
rs67393765	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67660353	0.84[AMR][1000 genomes]
rs67757182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67984155	1.00[ASN][1000 genomes]
rs68112042	1.00[ASN][1000 genomes]
rs72981015	1.00[ASN][1000 genomes]
rs72981030	1.00[ASN][1000 genomes]
rs72981046	1.00[ASN][1000 genomes]
rs72981047	1.00[ASN][1000 genomes]
rs72986744	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7563597	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7570304	1.00[ASN][1000 genomes]
rs7586219	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv584297	chr2:209020181-209316760	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209271200-209272600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:209271600-209272600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr2:209271800-209272600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
4	chr2:209271800-209272600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr2:209272000-209272600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
6	chr2:209272000-209272600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:209272200-209272600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr2:209272200-209272600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:209272200-209272600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:209272200-209272600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
11	chr2:209272200-209272600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr2:209272200-209272600	Bivalent Enhancer	A549	lung
13	chr2:209272200-209272800	Bivalent Enhancer	Fetal Brain Male	brain
14	chr2:209272400-209272600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr2:209272400-209272600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr2:209272400-209272600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr2:209272400-209272600	Enhancers	Fetal Brain Female	brain

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