Variant report

Variant	rs11909195
Chromosome Location	chr21:45015117-45015118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:45014001..45016149-chr21:45027963..45031277,3	MCF-7	breast:
2	chr21:45009002..45010777-chr21:45012322..45015195,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10427514	0.83[AMR][1000 genomes]
rs10483077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10483078	0.83[AMR][1000 genomes]
rs11089065	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11908919	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909530	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909813	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11909916	0.83[AMR][1000 genomes]
rs11909999	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910220	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910351	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11910352	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11911293	0.85[AFR][1000 genomes]
rs11911483	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11911735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12106371	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12106423	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs12106466	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs13339951	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004580	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004582	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs17004585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004589	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004590	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17004592	0.83[AMR][1000 genomes]
rs17004593	0.83[AMR][1000 genomes]
rs17004594	0.83[AMR][1000 genomes]
rs17004595	0.83[AMR][1000 genomes]
rs17004596	0.83[AMR][1000 genomes]
rs28431406	0.83[AMR][1000 genomes]
rs28782771	0.83[AMR][1000 genomes]
rs28852206	0.83[AMR][1000 genomes]
rs59298188	0.85[AMR][1000 genomes]
rs7283618	0.87[AFR][1000 genomes]
rs9917493	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv1061539	chr21:44915533-45041824	Weak transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv1067171	chr21:44921187-45039471	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
4	nsv521700	chr21:44925334-45041790	Enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
5	nsv470903	chr21:44925334-45061501	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv459289	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
7	nsv587690	chr21:44925334-45064600	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
8	nsv1065359	chr21:44967209-45029878	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv834106	chr21:44992387-45109489	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv587700	chr21:45007956-45095200	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
3	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:45006600-45015200	Enhancers	A549	lung
5	chr21:45007000-45016400	Weak transcription	NHLF	lung
6	chr21:45008000-45020000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr21:45009200-45020000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:45009600-45016200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:45010800-45015200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:45010800-45015800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:45010800-45016200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:45010800-45016400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:45010800-45016400	Weak transcription	NHEK	skin
14	chr21:45011800-45016200	Weak transcription	HMEC	breast
15	chr21:45012000-45016400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr21:45012200-45016200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:45012200-45016400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:45012200-45016400	Weak transcription	Osteobl	bone
19	chr21:45012800-45016400	Weak transcription	HSMMtube	muscle
20	chr21:45012800-45016800	Weak transcription	Fetal Intestine Small	intestine
21	chr21:45013200-45022200	Weak transcription	Adipose Nuclei	Adipose
22	chr21:45013400-45016200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr21:45013400-45016400	Weak transcription	Hela-S3	cervix
24	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr21:45014200-45015200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr21:45014200-45016200	Weak transcription	HepG2	liver
27	chr21:45014200-45016400	Weak transcription	HSMM	muscle
28	chr21:45014800-45015600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr21:45014800-45018600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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