Variant report

Variant	rs34538966
Chromosome Location	chr21:46128638-46128639
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46127002..46129520-chr21:46147214..46149765,2	MCF-7	breast:
2	chr21:46126774..46129621-chr21:46133926..46136280,3	MCF-7	breast:
3	chr21:46126963..46129627-chr21:46155691..46157710,2	MCF-7	breast:
4	chr21:46004403..46006273-chr21:46126860..46128813,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1107119	0.88[ASN][1000 genomes]
rs1108261	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11700586	1.00[ASN][1000 genomes]
rs13048736	0.84[AMR][1000 genomes]
rs13050276	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13051842	0.84[AMR][1000 genomes]
rs1883044	0.98[ASN][1000 genomes]
rs2329895	0.83[ASN][1000 genomes]
rs2838642	0.84[AMR][1000 genomes]
rs2838643	0.84[AMR][1000 genomes]
rs2838647	0.85[AMR][1000 genomes]
rs34103049	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34163868	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34800343	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35534934	0.92[ASN][1000 genomes]
rs71317705	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8132257	0.82[AMR][1000 genomes]
rs878551	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs998421	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46122800-46129400	Weak transcription	Right Atrium	heart
2	chr21:46126000-46129000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
3	chr21:46126000-46129400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr21:46126000-46132600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr21:46126200-46132000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr21:46126400-46132800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr21:46126800-46129400	Weak transcription	Pancreas	Pancrea
8	chr21:46127400-46130000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:46127400-46131800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr21:46127400-46132000	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr21:46127600-46129800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
12	chr21:46127600-46130200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr21:46128000-46128800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr21:46128000-46129000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:46128000-46129000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr21:46128000-46129200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr21:46128000-46129200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
18	chr21:46128000-46129200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr21:46128000-46129200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr21:46128000-46129400	Bivalent Enhancer	Left Ventricle	heart
21	chr21:46128200-46128800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr21:46128200-46129400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr21:46128200-46129600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
24	chr21:46128200-46130000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:46128200-46130000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr21:46128400-46129000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr21:46128400-46129000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:46128400-46129000	Bivalent Enhancer	HMEC	breast
29	chr21:46128400-46129200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr21:46128400-46129200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr21:46128400-46129200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr21:46128400-46129400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr21:46128400-46129400	Bivalent Enhancer	Right Ventricle	heart
34	chr21:46128400-46131200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr21:46128600-46128800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
36	chr21:46128600-46129000	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr21:46128600-46129200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:46128600-46129200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr21:46128600-46129200	Bivalent Enhancer	Fetal Thymus	thymus
40	chr21:46128600-46129200	Bivalent Enhancer	NHEK	skin
41	chr21:46128600-46129800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
42	chr21:46128600-46130400	Bivalent Enhancer	Lung	lung
43	chr21:46128600-46130800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr21:46128600-46131800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood

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