Variant report

Variant	rs28658387
Chromosome Location	chr21:46127145-46127146
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46121061..46122694-chr21:46126965..46128571,2	MCF-7	breast:
2	chr21:46127002..46129520-chr21:46147214..46149765,2	MCF-7	breast:
3	chr21:46123174..46125281-chr21:46125754..46127602,2	K562	blood:
4	chr21:46126774..46129621-chr21:46133926..46136280,3	MCF-7	breast:
5	chr21:46126963..46129627-chr21:46155691..46157710,2	MCF-7	breast:
6	chr21:46004403..46006273-chr21:46126860..46128813,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236382	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs12329668	1.00[ASN][1000 genomes]
rs17211921	1.00[ASN][1000 genomes]
rs17213734	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17213972	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17284014	1.00[ASN][1000 genomes]
rs17284056	1.00[ASN][1000 genomes]
rs17284167	1.00[ASN][1000 genomes]
rs17285096	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285396	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285466	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17285795	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17286075	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2329891	1.00[ASN][1000 genomes]
rs2329896	1.00[ASN][1000 genomes]
rs2838628	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36091286	1.00[ASN][1000 genomes]
rs4401291	1.00[ASN][1000 genomes]
rs55700391	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55781313	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55805293	1.00[ASN][1000 genomes]
rs55830574	1.00[ASN][1000 genomes]
rs55881656	0.94[EUR][1000 genomes]
rs55929251	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55962178	1.00[ASN][1000 genomes]
rs56008135	1.00[ASN][1000 genomes]
rs56019874	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56135164	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138130	1.00[ASN][1000 genomes]
rs56277017	1.00[ASN][1000 genomes]
rs56310126	1.00[ASN][1000 genomes]
rs59742230	1.00[ASN][1000 genomes]
rs60533424	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73233077	1.00[ASN][1000 genomes]
rs73233084	1.00[ASN][1000 genomes]
rs73233088	1.00[ASN][1000 genomes]
rs73233095	1.00[ASN][1000 genomes]
rs73233102	1.00[ASN][1000 genomes]
rs73234804	1.00[ASN][1000 genomes]
rs73234823	1.00[ASN][1000 genomes]
rs73234825	1.00[ASN][1000 genomes]
rs73234826	1.00[ASN][1000 genomes]
rs73234827	1.00[ASN][1000 genomes]
rs73234828	1.00[ASN][1000 genomes]
rs73234830	1.00[ASN][1000 genomes]
rs73234831	1.00[ASN][1000 genomes]
rs73234832	1.00[ASN][1000 genomes]
rs73234833	1.00[ASN][1000 genomes]
rs73234834	1.00[ASN][1000 genomes]
rs73234835	1.00[ASN][1000 genomes]
rs73234839	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234841	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234848	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234850	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234853	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73234870	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875125	1.00[ASN][1000 genomes]
rs9978068	1.00[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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46122800-46129400	Weak transcription	Right Atrium	heart
2	chr21:46125800-46128400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr21:46126000-46127400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:46126000-46129000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr21:46126000-46129400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr21:46126000-46132600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr21:46126200-46127200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:46126200-46127400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
9	chr21:46126200-46127600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:46126200-46128600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr21:46126200-46132000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr21:46126400-46132800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
13	chr21:46126600-46128000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr21:46126600-46128200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr21:46126600-46128600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr21:46126800-46127400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr21:46126800-46127800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr21:46126800-46128200	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:46126800-46129400	Weak transcription	Pancreas	Pancrea
20	chr21:46127000-46127200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr21:46127000-46127200	Weak transcription	Spleen	Spleen
22	chr21:46127000-46128600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell

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