Variant report

Variant	rs13424035
Chromosome Location	chr2:73402059-73402060
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:73339571..73341908-chr2:73400787..73402875,2	K562	blood:
2	chr2:73309989..73312772-chr2:73401984..73404502,2	K562	blood:
3	chr2:73400031..73402638-chr2:73440511..73442710,2	MCF-7	breast:
4	chr2:73294173..73300543-chr2:73401551..73404671,7	K562	blood:
5	chr2:73308519..73311489-chr2:73401817..73404502,2	K562	blood:
6	chr2:73401151..73404803-chr2:73459645..73462952,5	K562	blood:
7	chr2:73295500..73300396-chr2:73401835..73404671,6	K562	blood:
8	chr2:73401743..73403475-chr2:73435691..73438146,2	K562	blood:
9	chr2:73390881..73393497-chr2:73402051..73404149,2	MCF-7	breast:
10	chr2:73387532..73389570-chr2:73400341..73402912,2	K562	blood:
11	chr2:73402017..73403720-chr2:73414284..73415900,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272702	Chromatin interaction
ENSG00000135624	Chromatin interaction
ENSG00000135617	Chromatin interaction
ENSG00000135631	Chromatin interaction
ENSG00000144040	Chromatin interaction
ENSG00000135632	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10048666	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048720	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048837	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10048838	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10185970	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10193579	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10195007	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10195282	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10198711	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11884073	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11888772	1.00[ASN][1000 genomes]
rs11893547	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13009208	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13385938	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386236	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13404992	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13409784	0.89[ASN][1000 genomes]
rs13423796	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17008829	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008862	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008864	1.00[ASN][1000 genomes]
rs2043092	1.00[ASN][1000 genomes]
rs2288632	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28464603	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494567	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768636	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3820701	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57321619	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60913601	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61534579	0.82[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6757079	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903461	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7594590	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006801	chr2:73305056-73431711	Weak transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73384000-73402600	Weak transcription	Right Atrium	heart
2	chr2:73399200-73402400	Weak transcription	Right Ventricle	heart
3	chr2:73400200-73402400	Weak transcription	Gastric	stomach
4	chr2:73401000-73404000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:73401200-73402200	Bivalent Enhancer	HepG2	liver
6	chr2:73401600-73402400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:73401600-73402400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:73401600-73402600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:73401800-73402400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:73402000-73402200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr2:73402000-73402200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr2:73402000-73402200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
13	chr2:73402000-73402200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr2:73402000-73402200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr2:73402000-73402200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
16	chr2:73402000-73402200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:73402000-73402200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:73402000-73402200	Bivalent Enhancer	Brain Germinal Matrix	brain
19	chr2:73402000-73402400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:73402000-73402400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:73402000-73402400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr2:73402000-73402400	Enhancers	HUVEC	blood vessel
23	chr2:73402000-73402600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:73402000-73402600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:73402000-73403600	Enhancers	Fetal Heart	heart
26	chr2:73402000-73404000	Bivalent Enhancer	Fetal Lung	lung

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