Variant report

Variant	rs56068325
Chromosome Location	chr2:73795026-73795027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:73788145..73790335-chr2:73793829..73795838,2	MCF-7	breast:
2	chr2:73793527..73795637-chr2:73799230..73800827,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10190002	0.95[ASN][1000 genomes]
rs10192125	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10197233	0.88[EUR][1000 genomes]
rs1083920	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10865398	0.84[ASN][1000 genomes]
rs1091568	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11126407	0.89[EUR][1000 genomes]
rs11126408	0.88[EUR][1000 genomes]
rs11126409	0.87[EUR][1000 genomes]
rs11680056	0.88[EUR][1000 genomes]
rs11683970	0.89[EUR][1000 genomes]
rs11685372	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11688718	0.89[ASN][1000 genomes]
rs11689767	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12151671	0.89[EUR][1000 genomes]
rs1246096	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1246105	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12620569	0.89[EUR][1000 genomes]
rs12713783	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13007306	0.88[EUR][1000 genomes]
rs13007623	0.89[EUR][1000 genomes]
rs17349804	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1852645	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1852647	0.82[EUR][1000 genomes]
rs1879662	0.88[EUR][1000 genomes]
rs1879666	0.89[EUR][1000 genomes]
rs1881247	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1881248	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2017116	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2037814	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2280506	0.88[EUR][1000 genomes]
rs2280507	0.88[EUR][1000 genomes]
rs2421585	0.89[EUR][1000 genomes]
rs2421587	0.87[EUR][1000 genomes]
rs2421589	0.84[EUR][1000 genomes]
rs2421590	0.89[EUR][1000 genomes]
rs2421660	0.89[EUR][1000 genomes]
rs2421662	0.89[EUR][1000 genomes]
rs2860579	0.81[EUR][1000 genomes]
rs28708576	0.83[EUR][1000 genomes]
rs2948441	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2950770	0.92[EUR][1000 genomes]
rs34719281	0.89[EUR][1000 genomes]
rs3820700	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3980696	0.87[EUR][1000 genomes]
rs4241256	0.89[EUR][1000 genomes]
rs4436991	0.94[EUR][1000 genomes]
rs4443018	0.88[EUR][1000 genomes]
rs4511748	0.87[EUR][1000 genomes]
rs4637150	0.81[EUR][1000 genomes]
rs4852305	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4852309	0.87[EUR][1000 genomes]
rs4852310	0.89[EUR][1000 genomes]
rs4852936	0.95[EUR][1000 genomes]
rs4852937	0.97[EUR][1000 genomes]
rs4852940	0.88[EUR][1000 genomes]
rs4852948	0.88[EUR][1000 genomes]
rs4852949	0.89[EUR][1000 genomes]
rs55677218	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56054150	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56770679	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62153184	0.88[ASN][1000 genomes]
rs6546830	0.81[EUR][1000 genomes]
rs6546831	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6546832	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6546833	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6546834	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6546842	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6546846	0.82[ASN][1000 genomes]
rs6546863	0.89[EUR][1000 genomes]
rs6546865	0.89[EUR][1000 genomes]
rs6546870	0.89[EUR][1000 genomes]
rs66931335	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6712242	0.87[EUR][1000 genomes]
rs6725284	0.89[EUR][1000 genomes]
rs6729347	0.89[EUR][1000 genomes]
rs6729468	0.87[ASN][1000 genomes]
rs6732440	0.81[ASN][1000 genomes]
rs6734450	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6743576	0.89[ASN][1000 genomes]
rs6744273	0.88[EUR][1000 genomes]
rs6744697	0.86[ASN][1000 genomes]
rs6746458	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6757996	0.90[ASN][1000 genomes]
rs6759464	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67877078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67898050	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68154245	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72811933	0.83[ASN][1000 genomes]
rs72811939	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7562047	0.81[ASN][1000 genomes]
rs7566315	0.95[ASN][1000 genomes]
rs7570014	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7579068	0.87[EUR][1000 genomes]
rs7585119	0.81[ASN][1000 genomes]
rs7585668	0.88[EUR][1000 genomes]
rs7608308	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7609034	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7609249	0.89[ASN][1000 genomes]
rs780388	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780389	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs780390	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs780396	0.81[ASN][1000 genomes]
rs802113	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv874267	chr2:73717656-73857002	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73731800-73807600	Weak transcription	Hela-S3	cervix
2	chr2:73744200-73799800	Weak transcription	NH-A	brain
3	chr2:73758000-73799800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:73758200-73800200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:73759600-73828000	Weak transcription	Pancreas	Pancrea
6	chr2:73760600-73828000	Weak transcription	Right Ventricle	heart
7	chr2:73764600-73806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr2:73764600-73807200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:73765200-73807800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:73765400-73808400	Weak transcription	HepG2	liver
11	chr2:73765600-73799600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:73765800-73815400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:73765800-73837800	Weak transcription	Fetal Brain Male	brain
14	chr2:73766000-73807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:73766400-73799400	Weak transcription	Thymus	Thymus
16	chr2:73766400-73799600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:73766400-73799600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:73766400-73799600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:73766400-73799600	Weak transcription	Lung	lung
20	chr2:73766400-73803200	Weak transcription	Fetal Intestine Large	intestine
21	chr2:73769200-73802800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:73772000-73799600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:73772200-73799400	Weak transcription	Fetal Brain Female	brain
24	chr2:73773200-73795200	Weak transcription	Small Intestine	intestine
25	chr2:73775600-73811400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:73776000-73799600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:73776000-73801200	Weak transcription	GM12878-XiMat	blood
28	chr2:73776000-73821600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:73776400-73807800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:73778600-73799800	Weak transcription	Fetal Stomach	stomach
31	chr2:73778600-73811400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:73778800-73806200	Weak transcription	Fetal Intestine Small	intestine
33	chr2:73779800-73799400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr2:73779800-73799800	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:73780600-73796800	Weak transcription	HUVEC	blood vessel
36	chr2:73782200-73811400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:73782600-73808000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr2:73783600-73799800	Weak transcription	Primary B cells from cord blood	blood
39	chr2:73784200-73808200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr2:73784400-73799600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:73784400-73799800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:73785200-73815400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:73785400-73838200	Weak transcription	Psoas Muscle	Psoas
44	chr2:73785600-73799800	Weak transcription	Left Ventricle	heart
45	chr2:73786000-73800200	Weak transcription	HMEC	breast
46	chr2:73786200-73799400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:73786200-73815400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:73786400-73799400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:73786400-73799600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:73786400-73800400	Weak transcription	Brain Substantia Nigra	brain

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