Variant report

Variant	rs28483778
Chromosome Location	chr9:98180740-98180741
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:98174491..98183187-chr9:98187141..98190074,10	K562	blood:
2	chr9:98180365..98181885-chr9:98188558..98190074,2	K562	blood:
3	chr9:98175278..98177936-chr9:98179160..98180755,2	K562	blood:
4	chr9:98179149..98181138-chr9:98267525..98270206,2	K562	blood:
5	chr9:98172180..98174810-chr9:98179006..98181290,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185920	Chromatin interaction
ENSG00000237857	Chromatin interaction
ENSG00000213761	Chromatin interaction
ENSG00000271155	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10993533	0.91[ASN][1000 genomes]
rs12235126	0.94[ASN][1000 genomes]
rs28434674	1.00[EUR][1000 genomes]
rs28455750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522014	0.97[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	nsv831657	chr9:97959274-98204769	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv531633	chr9:98078300-98431120	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv831658	chr9:98152971-98342178	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1051731	chr9:98154815-98201115	Active TSS ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:98160400-98188400	Weak transcription	Pancreas	Pancrea
2	chr9:98169800-98183600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr9:98169800-98183800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr9:98172800-98183600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr9:98173000-98181200	Weak transcription	NHEK	skin
6	chr9:98173000-98183600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr9:98173200-98183400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:98173200-98184000	Weak transcription	Fetal Intestine Large	intestine
9	chr9:98173400-98184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:98173600-98188200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr9:98173800-98184000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:98174000-98183800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:98174200-98183400	Weak transcription	Fetal Intestine Small	intestine
14	chr9:98174200-98183800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr9:98174600-98182800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:98175200-98183800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr9:98175200-98184200	Weak transcription	K562	blood
18	chr9:98176400-98184800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr9:98176600-98185200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr9:98177800-98184200	Weak transcription	HepG2	liver
21	chr9:98178000-98183800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:98178000-98185200	Weak transcription	NHLF	lung
23	chr9:98179400-98183800	Weak transcription	Lung	lung
24	chr9:98179600-98183800	Weak transcription	Liver	Liver
25	chr9:98179600-98183800	Weak transcription	A549	lung
26	chr9:98179800-98184000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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