Variant report

Variant	rs73089407
Chromosome Location	chr1:209866719-209866720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:209819462..209820022-chr1:209865978..209866838,2	MCF-7	breast:
2	chr1:209763417..209764356-chr1:209866338..209866933,2	MCF-7	breast:
3	chr1:209858876..209863587-chr1:209863612..209867489,5	K562	blood:
4	chr1:209749824..209750693-chr1:209866135..209866849,3	MCF-7	breast:
5	chr1:209749329..209750696-chr1:209865953..209867157,8	K562	blood:
6	chr1:209819600..209821361-chr1:209865493..209866846,9	MCF-7	breast:
7	chr1:209858876..209860743-chr1:209865909..209867489,2	K562	blood:
8	chr1:209865918..209866816-chr1:210162649..210163548,2	MCF-7	breast:
9	chr1:209742622..209744127-chr1:209864930..209867210,2	MCF-7	breast:
10	chr1:209751059..209753558-chr1:209865258..209867656,2	K562	blood:
11	chr1:209749734..209750526-chr1:209865971..209866858,4	MCF-7	breast:
12	chr1:209742414..209743881-chr1:209865939..209867133,12	K562	blood:
13	chr1:209775557..209776313-chr1:209865946..209866897,2	K562	blood:
14	chr1:209865847..209866908-chr1:209920647..209921937,5	K562	blood:
15	chr1:209816699..209817682-chr1:209866046..209866825,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117594	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57606822	0.86[ASN][1000 genomes]
rs60132042	0.86[ASN][1000 genomes]
rs73089412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73089418	0.86[ASN][1000 genomes]
rs846907	0.86[ASN][1000 genomes]
rs846909	0.86[ASN][1000 genomes]
rs846911	0.86[ASN][1000 genomes]
rs846914	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs846915	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs860185	0.86[ASN][1000 genomes]
rs861762	0.86[ASN][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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209862800-209867600	Weak transcription	Fetal Intestine Large	intestine
2	chr1:209863200-209869600	Weak transcription	Fetal Heart	heart
3	chr1:209863200-209870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:209864400-209867000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:209864600-209866800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:209864600-209866800	Enhancers	HMEC	breast
7	chr1:209865200-209867200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:209866000-209866800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr1:209866000-209866800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:209866000-209866800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:209866000-209866800	Enhancers	Adipose Nuclei	Adipose
12	chr1:209866000-209867000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr1:209866200-209866800	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:209866200-209866800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:209866200-209866800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:209866200-209866800	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:209866200-209867000	Enhancers	Brain Anterior Caudate	brain
18	chr1:209866200-209867000	Enhancers	Brain Substantia Nigra	brain
19	chr1:209866200-209872200	Weak transcription	Thymus	Thymus
20	chr1:209866400-209866800	Bivalent Enhancer	Primary B cells from cord blood	blood
21	chr1:209866400-209866800	Enhancers	Brain Hippocampus Middle	brain
22	chr1:209866400-209866800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr1:209866400-209867000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
24	chr1:209866400-209869200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:209866400-209869200	Weak transcription	NHEK	skin
26	chr1:209866400-209870800	Weak transcription	Stomach Mucosa	stomach
27	chr1:209866600-209866800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
28	chr1:209866600-209870000	Weak transcription	Brain Cingulate Gyrus	brain

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