Variant report

Variant	rs13382597
Chromosome Location	chr2:100578246-100578247
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100577188..100580714-chr2:100582263..100586787,5	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10164818	0.82[AFR][1000 genomes]
rs10165066	0.97[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10183465	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10187195	0.99[EUR][1000 genomes]
rs10189707	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10198187	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10209198	0.87[EUR][1000 genomes]
rs11887136	0.98[EUR][1000 genomes]
rs11897706	0.95[EUR][1000 genomes]
rs13383014	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13385193	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13393937	0.84[EUR][1000 genomes]
rs13405987	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410695	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13410884	0.98[EUR][1000 genomes]
rs13413309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13416574	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1574207	0.87[EUR][1000 genomes]
rs17023362	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17023378	0.88[EUR][1000 genomes]
rs17023391	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17023393	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17436955	0.89[EUR][1000 genomes]
rs2001722	0.87[EUR][1000 genomes]
rs2309775	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4129805	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4449188	0.83[EUR][1000 genomes]
rs4641993	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55649403	0.85[EUR][1000 genomes]
rs55681051	0.85[EUR][1000 genomes]
rs56332326	0.96[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs57360658	0.96[EUR][1000 genomes]
rs58270548	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62147652	0.85[EUR][1000 genomes]
rs62147658	0.85[EUR][1000 genomes]
rs62147659	0.87[EUR][1000 genomes]
rs62149260	0.87[EUR][1000 genomes]
rs62149262	0.87[EUR][1000 genomes]
rs62149263	0.87[EUR][1000 genomes]
rs62149264	0.81[EUR][1000 genomes]
rs62149268	0.87[EUR][1000 genomes]
rs62149270	0.88[EUR][1000 genomes]
rs62149271	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62149272	0.88[EUR][1000 genomes]
rs62149296	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62149297	0.88[EUR][1000 genomes]
rs62149298	0.89[EUR][1000 genomes]
rs62149299	0.89[EUR][1000 genomes]
rs62149301	0.89[EUR][1000 genomes]
rs62149302	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6736239	0.85[EUR][1000 genomes]
rs72819146	0.85[EUR][1000 genomes]
rs72819147	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72819148	0.87[EUR][1000 genomes]
rs72819149	0.87[EUR][1000 genomes]
rs72819157	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72819165	0.85[EUR][1000 genomes]
rs7425132	0.96[EUR][1000 genomes]
rs7573669	0.85[EUR][1000 genomes]
rs7576469	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7577040	0.96[EUR][1000 genomes]
rs9308831	0.89[EUR][1000 genomes]
rs9308832	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1003114	chr2:100480432-100601586	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100550800-100618200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:100563200-100625400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:100564800-100617000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:100569600-100584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:100570600-100598400	Weak transcription	Dnd41	blood
6	chr2:100573400-100578400	Enhancers	Fetal Brain Male	brain
7	chr2:100573800-100599600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:100574400-100591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:100574800-100583800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:100574800-100584000	Weak transcription	Primary T cells from cord blood	blood
11	chr2:100575200-100578400	Enhancers	Fetal Brain Female	brain
12	chr2:100576200-100578400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:100576400-100578800	Enhancers	Fetal Heart	heart
14	chr2:100577000-100578600	Enhancers	Left Ventricle	heart
15	chr2:100577000-100578600	Enhancers	Ovary	ovary
16	chr2:100577000-100578800	Enhancers	Gastric	stomach
17	chr2:100577000-100578800	Enhancers	Right Atrium	heart
18	chr2:100577200-100590800	Weak transcription	Fetal Kidney	kidney
19	chr2:100577400-100579000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr2:100577400-100618200	Weak transcription	Aorta	Aorta
21	chr2:100577600-100578800	Enhancers	Fetal Lung	lung
22	chr2:100577600-100585200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:100577600-100587000	Weak transcription	Lung	lung
24	chr2:100577800-100578800	Enhancers	Right Ventricle	heart
25	chr2:100577800-100603400	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:100577800-100607400	Weak transcription	Thymus	Thymus
27	chr2:100577800-100623000	Weak transcription	Adipose Nuclei	Adipose
28	chr2:100577800-100623000	Weak transcription	Brain Angular Gyrus	brain
29	chr2:100578000-100580600	Weak transcription	Primary B cells from cord blood	blood
30	chr2:100578000-100589600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr2:100578000-100616200	Weak transcription	Fetal Thymus	thymus
32	chr2:100578200-100578600	Enhancers	iPS-20b Cell Line	embryonic stem cell

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