Variant report

Variant	rs13026809
Chromosome Location	chr2:210073184-210073185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:209330724..209331762-chr2:210072595..210073780,7	MCF-7	breast:
2	chr2:209685011..209685630-chr2:210072613..210073438,3	MCF-7	breast:
3	chr2:209521522..209522845-chr2:210072588..210073484,4	MCF-7	breast:
4	chr2:209272322..209273071-chr2:210072607..210073525,2	K562	blood:
5	chr2:209684819..209685719-chr2:210072640..210073642,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227430	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10169979	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10173917	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10176227	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10176264	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179445	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10182757	0.97[ASN][1000 genomes]
rs10186025	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10202821	0.88[ASN][1000 genomes]
rs10497918	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10497919	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10497920	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11900049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12694156	0.96[ASN][1000 genomes]
rs12694157	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694159	0.97[ASN][1000 genomes]
rs12694160	0.97[ASN][1000 genomes]
rs12694162	0.96[ASN][1000 genomes]
rs12694163	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12694164	1.00[ASN][1000 genomes]
rs12694166	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13000497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13015842	0.96[ASN][1000 genomes]
rs13388501	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13388592	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391201	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391946	0.84[ASN][1000 genomes]
rs13392114	0.84[ASN][1000 genomes]
rs13395229	0.82[ASN][1000 genomes]
rs13398502	0.97[ASN][1000 genomes]
rs13403418	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13405413	0.84[ASN][1000 genomes]
rs13418760	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13423668	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1439727	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439730	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1439741	0.97[ASN][1000 genomes]
rs1439743	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1446603	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1446604	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1446605	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1446606	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1530132	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1530133	0.96[ASN][1000 genomes]
rs1583758	0.96[ASN][1000 genomes]
rs1595737	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1595738	0.96[ASN][1000 genomes]
rs16842610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1837431	0.96[ASN][1000 genomes]
rs1898943	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2043915	0.84[ASN][1000 genomes]
rs2043916	0.84[ASN][1000 genomes]
rs2043917	0.84[ASN][1000 genomes]
rs2119038	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119039	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2119041	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34003755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34282948	0.97[ASN][1000 genomes]
rs34590389	0.97[ASN][1000 genomes]
rs34867362	0.97[ASN][1000 genomes]
rs4020158	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4101456	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4332863	0.96[ASN][1000 genomes]
rs4455100	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4480932	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4602158	0.97[ASN][1000 genomes]
rs5009380	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6435517	0.96[ASN][1000 genomes]
rs6435518	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66489564	0.84[ASN][1000 genomes]
rs6707270	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6707382	0.97[ASN][1000 genomes]
rs6707464	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707503	0.96[ASN][1000 genomes]
rs6717755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6718580	0.84[ASN][1000 genomes]
rs6720624	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6727838	0.96[ASN][1000 genomes]
rs6733492	0.97[ASN][1000 genomes]
rs6740295	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745027	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6750576	0.84[ASN][1000 genomes]
rs6753916	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6756445	0.96[ASN][1000 genomes]
rs6757269	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72998551	0.86[ASN][1000 genomes]
rs7420558	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7560902	0.84[ASN][1000 genomes]
rs7563326	0.94[ASN][1000 genomes]
rs7563731	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7571546	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7581212	0.97[ASN][1000 genomes]
rs7586718	0.97[ASN][1000 genomes]
rs7587994	0.84[ASN][1000 genomes]
rs7593117	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7593829	0.97[ASN][1000 genomes]
rs7598051	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875761	chr2:209912108-210222004	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1000214	chr2:209987607-210308626	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv536133	chr2:209987607-210308626	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv460059	chr2:210058383-210215272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv584308	chr2:210058383-210215272	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1006506	chr2:210063871-210212039	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv536134	chr2:210063871-210212039	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003864	chr2:210063871-210308626	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:210072000-210075000	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:210072400-210074800	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr2:210072600-210074200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:210073000-210073200	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr2:210073000-210073400	Active TSS	Colon Smooth Muscle	Colon
6	chr2:210073000-210073400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr2:210073000-210073400	Active TSS	Fetal Intestine Small	intestine
8	chr2:210073000-210073400	Active TSS	Fetal Kidney	kidney
9	chr2:210073000-210073400	Active TSS	HMEC	breast
10	chr2:210073000-210073400	Active TSS	K562	blood
11	chr2:210073000-210073600	Active TSS	Adipose Nuclei	Adipose
12	chr2:210073000-210073600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:210073000-210073600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:210073000-210073600	Active TSS	Rectal Smooth Muscle	rectum
15	chr2:210073000-210073600	Active TSS	A549	lung
16	chr2:210073000-210073800	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr2:210073000-210073800	Active TSS	HepG2	liver
18	chr2:210073000-210074000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:210073000-210074000	Active TSS	Primary hematopoietic stem cells	blood
20	chr2:210073000-210074000	Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:210073000-210074000	Active TSS	Thymus	Thymus
22	chr2:210073000-210074000	Active TSS	HUVEC	blood vessel
23	chr2:210073000-210074000	Active TSS	NHDF-Ad	bronchial
24	chr2:210073000-210074200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:210073000-210074200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:210073000-210074200	Active TSS	Brain Hippocampus Middle	brain
27	chr2:210073000-210074200	Active TSS	Ovary	ovary
28	chr2:210073000-210074200	Active TSS	Psoas Muscle	Psoas
29	chr2:210073000-210074200	Active TSS	Right Ventricle	heart
30	chr2:210073000-210074200	Active TSS	HSMM	muscle
31	chr2:210073000-210074200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr2:210073000-210074400	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:210073000-210074600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:210073000-210074600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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