Variant report

Variant	rs55946083
Chromosome Location	chr9:17906066-17906067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12345818	0.83[ASN][1000 genomes]
rs16936065	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936076	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16936077	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17765335	0.82[EUR][1000 genomes]
rs28513701	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56352614	0.86[EUR][1000 genomes]
rs60356932	0.89[EUR][1000 genomes]
rs62547768	0.82[EUR][1000 genomes]
rs62547826	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7033985	0.89[EUR][1000 genomes]
rs7033990	0.89[EUR][1000 genomes]
rs7046694	0.93[EUR][1000 genomes]
rs72693941	0.82[EUR][1000 genomes]
rs72695903	1.00[ASN][1000 genomes]
rs7873052	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7873257	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv613706	chr9:17718918-18090934	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv613707	chr9:17720175-18070475	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv613708	chr9:17720175-18072085	Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1034673	chr9:17739006-17916606	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1023089	chr9:17748811-17919574	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv1795741	chr9:17880109-17951331	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
7	esv1797946	chr9:17880109-17951331	Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
8	esv1818676	chr9:17880109-17951331	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
9	esv1829631	chr9:17880109-17951331	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	esv1830694	chr9:17880109-17951331	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
11	esv1834674	chr9:17880109-17951331	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
12	esv1836647	chr9:17880109-17951331	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	esv1845722	chr9:17880109-17951331	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
14	esv1849548	chr9:17880109-17951331	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
15	nsv508538	chr9:17887411-17920964	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	esv1835770	chr9:17895450-17932804	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv1838406	chr9:17895450-17932804	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
18	nsv613709	chr9:17899606-17918806	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
19	esv1825942	chr9:17902936-17911470	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
20	esv1809859	chr9:17904496-17911466	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
21	nsv613710	chr9:17904496-17911470	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
22	esv1792677	chr9:17904496-17911627	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
23	esv1818861	chr9:17904496-17911627	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
24	esv1829221	chr9:17904496-17911627	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
25	esv1838000	chr9:17904496-17911627	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
26	esv1840461	chr9:17904496-17911627	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Weak transcription	n/a	n/a	inside rSNPs	diseases
27	esv1847666	chr9:17904496-17911627	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
28	esv1848231	chr9:17904496-17911627	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
29	nsv613711	chr9:17904496-17915215	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17905200-17906600	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr9:17905200-17906800	Active TSS	Rectal Smooth Muscle	rectum
3	chr9:17905200-17907000	Enhancers	Pancreas	Pancrea
4	chr9:17905200-17907600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr9:17905200-17907800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
7	chr9:17905400-17906400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr9:17905400-17906600	Active TSS	Colonic Mucosa	Colon
9	chr9:17905400-17906800	Bivalent Enhancer	Fetal Brain Male	brain
10	chr9:17905400-17907400	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr9:17905400-17908200	Active TSS	Aorta	Aorta
12	chr9:17905400-17908400	Active TSS	Colon Smooth Muscle	Colon
13	chr9:17905600-17906200	Flanking Bivalent TSS/Enh	Fetal Lung	lung
14	chr9:17905600-17906400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr9:17905600-17907400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
16	chr9:17905600-17907600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:17905800-17906200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:17905800-17906200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
19	chr9:17905800-17906200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:17905800-17906200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:17905800-17906200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr9:17905800-17906200	Flanking Active TSS	Gastric	stomach
23	chr9:17905800-17906200	Bivalent Enhancer	Left Ventricle	heart
24	chr9:17905800-17906200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr9:17905800-17906200	Active TSS	Psoas Muscle	Psoas
26	chr9:17905800-17906200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr9:17905800-17906200	Enhancers	Spleen	Spleen
28	chr9:17905800-17906400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:17905800-17906800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:17905800-17906800	Bivalent/Poised TSS	Ovary	ovary
31	chr9:17905800-17907000	Bivalent/Poised TSS	Right Ventricle	heart
32	chr9:17905800-17907200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
33	chr9:17905800-17907200	Active TSS	Fetal Heart	heart
34	chr9:17905800-17907400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:17905800-17907400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr9:17905800-17907400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
37	chr9:17905800-17907600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr9:17905800-17907600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
39	chr9:17905800-17907600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr9:17905800-17907600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr9:17905800-17907800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr9:17905800-17907800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr9:17905800-17908000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
44	chr9:17905800-17908200	Active TSS	Right Atrium	heart
45	chr9:17905800-17908200	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr9:17905800-17908200	Bivalent/Poised TSS	Small Intestine	intestine
47	chr9:17906000-17906200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr9:17906000-17906200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr9:17906000-17906200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
50	chr9:17906000-17906200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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