Variant report

Variant	rs1854665
Chromosome Location	chr9:13273663-13273664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10809923	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10809926	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11790299	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13290727	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13297131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330134	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16930206	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1888150	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1980994	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149988	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34101279	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34423860	1.00[ASN][1000 genomes]
rs34504254	1.00[ASN][1000 genomes]
rs34714632	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34862901	1.00[ASN][1000 genomes]
rs4392997	1.00[ASN][1000 genomes]
rs7047995	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71507372	1.00[ASN][1000 genomes]
rs7866658	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	nsv892578	chr9:12942956-13485035	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv892583	chr9:13166139-13350478	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv892584	chr9:13214871-13350478	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv427838	chr9:13229753-13393890	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13226800-13278000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr9:13240000-13278000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:13255000-13277200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:13256800-13277600	Weak transcription	Fetal Muscle Leg	muscle
5	chr9:13265600-13278200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:13265800-13275000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:13265800-13275000	Weak transcription	Fetal Stomach	stomach
8	chr9:13266000-13275000	Weak transcription	Brain Angular Gyrus	brain
9	chr9:13266200-13275000	Weak transcription	Right Atrium	heart
10	chr9:13267000-13274800	Weak transcription	Adipose Nuclei	Adipose
11	chr9:13267000-13275000	Weak transcription	Brain Germinal Matrix	brain
12	chr9:13267000-13275000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:13267000-13275000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr9:13267800-13274000	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:13267800-13274200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr9:13268000-13274800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:13268000-13275000	Weak transcription	K562	blood
18	chr9:13268200-13274600	Weak transcription	HSMM	muscle
19	chr9:13268800-13275000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr9:13268800-13275000	Weak transcription	Ovary	ovary
21	chr9:13268800-13278000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:13268800-13278000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr9:13269000-13274800	Weak transcription	NH-A	brain
24	chr9:13269000-13276000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr9:13269000-13276600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:13269200-13274600	Weak transcription	Osteobl	bone
27	chr9:13269200-13275000	Weak transcription	Psoas Muscle	Psoas
28	chr9:13269400-13274800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr9:13269400-13275000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:13269400-13275000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr9:13269800-13274400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr9:13269800-13275000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr9:13269800-13277800	Weak transcription	Aorta	Aorta
34	chr9:13270000-13274800	Weak transcription	Fetal Lung	lung
35	chr9:13270000-13275000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:13270000-13275000	Weak transcription	Brain Substantia Nigra	brain
37	chr9:13270000-13277800	Weak transcription	Fetal Brain Male	brain
38	chr9:13270000-13278200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr9:13270200-13274800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:13270200-13274800	Weak transcription	A549	lung
41	chr9:13270200-13275000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:13270200-13275000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr9:13271000-13274600	Weak transcription	HUVEC	blood vessel
44	chr9:13271600-13275000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:13272000-13275000	Weak transcription	Brain Anterior Caudate	brain
46	chr9:13272200-13275000	Weak transcription	Brain Hippocampus Middle	brain
47	chr9:13272400-13274600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:13272600-13275000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr9:13272600-13278000	Weak transcription	Right Ventricle	heart
50	chr9:13273000-13274800	Weak transcription	Fetal Heart	heart

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