Variant report

Variant	rs1808630
Chromosome Location	chr9:116903788-116903789
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116903323..116904967-chr9:116908753..116911536,2	K562	blood:
2	chr9:116901825..116904823-chr9:116906598..116910253,3	K562	blood:
3	chr9:116899310..116902540-chr9:116902912..116904896,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12552534	0.82[MKK][hapmap]
rs13291169	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13291434	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13291749	1.00[ASN][1000 genomes]
rs13300086	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13300798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35719524	1.00[ASN][1000 genomes]
rs62556537	1.00[ASN][1000 genomes]
rs62556538	1.00[ASN][1000 genomes]
rs62556540	1.00[ASN][1000 genomes]
rs62560767	1.00[ASN][1000 genomes]
rs62560772	1.00[ASN][1000 genomes]
rs7857688	1.00[ASN][1000 genomes]
rs7867232	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466526	chr9:116901926-116924781	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615226	chr9:116901926-116924781	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116892800-116916000	Weak transcription	Gastric	stomach
2	chr9:116900600-116904600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr9:116900800-116905000	Enhancers	Left Ventricle	heart
4	chr9:116900800-116905200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:116900800-116906200	Enhancers	HepG2	liver
6	chr9:116901200-116905000	Enhancers	Fetal Lung	lung
7	chr9:116901800-116904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:116901800-116904400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:116901800-116904800	Enhancers	Fetal Heart	heart
10	chr9:116901800-116904800	Enhancers	Ovary	ovary
11	chr9:116901800-116905000	Enhancers	Right Atrium	heart
12	chr9:116902200-116903800	Weak transcription	Adipose Nuclei	Adipose
13	chr9:116902200-116906000	Enhancers	Fetal Stomach	stomach
14	chr9:116902400-116904200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:116902400-116905600	Enhancers	HSMMtube	muscle
16	chr9:116902600-116903800	Weak transcription	Stomach Mucosa	stomach
17	chr9:116902600-116904800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr9:116902600-116907800	Enhancers	Fetal Muscle Leg	muscle
19	chr9:116902800-116904800	Enhancers	Psoas Muscle	Psoas
20	chr9:116903000-116903800	Weak transcription	Brain Substantia Nigra	brain
21	chr9:116903000-116904600	Enhancers	Fetal Intestine Small	intestine
22	chr9:116903000-116904600	Enhancers	Rectal Smooth Muscle	rectum
23	chr9:116903200-116904400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:116903200-116904600	Weak transcription	Lung	lung
25	chr9:116903400-116904800	Enhancers	Liver	Liver
26	chr9:116903400-116904800	Enhancers	Colon Smooth Muscle	Colon
27	chr9:116903400-116904800	Enhancers	Fetal Intestine Large	intestine
28	chr9:116903400-116904800	Enhancers	Right Ventricle	heart
29	chr9:116903400-116905800	Enhancers	Fetal Muscle Trunk	muscle
30	chr9:116903600-116904400	Enhancers	Stomach Smooth Muscle	stomach

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