Variant report

Variant	rs12811488
Chromosome Location	chr9:17150822-17150823
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10506260	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11609078	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11609889	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11612170	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11612586	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11613494	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11614600	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11615455	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12810186	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12811419	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12813393	0.89[EUR][1000 genomes]
rs12816104	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12816234	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12816596	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12818196	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12822209	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12829582	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12830481	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12831193	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1605295	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17095316	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17598279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28696281	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34073769	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34089464	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34568257	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34608296	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34685472	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35018588	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35256979	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35374916	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35514455	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35555451	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35781370	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35799097	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35939831	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71459269	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71459270	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs71459276	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71459279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71459290	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71459292	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv428537	chr9:17146369-17308494	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv613693	chr9:17147191-17710407	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17135800-17154200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr9:17135800-17155200	Weak transcription	Spleen	Spleen
3	chr9:17136000-17155200	Weak transcription	Fetal Intestine Large	intestine
4	chr9:17136000-17161000	Weak transcription	Psoas Muscle	Psoas
5	chr9:17136200-17152600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr9:17136200-17154600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:17136200-17155200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:17136200-17157600	Weak transcription	Fetal Thymus	thymus
9	chr9:17136200-17159200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr9:17136200-17159600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:17136400-17151800	Weak transcription	NH-A	brain
12	chr9:17136400-17154800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr9:17136400-17156600	Weak transcription	NHLF	lung
14	chr9:17136400-17159000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:17136400-17163800	Weak transcription	Colon Smooth Muscle	Colon
16	chr9:17136400-17164200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:17136600-17154400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:17136600-17154800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr9:17136800-17154000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr9:17136800-17159000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:17137800-17160400	Weak transcription	Hela-S3	cervix
22	chr9:17140000-17154000	Weak transcription	Fetal Stomach	stomach
23	chr9:17142800-17154200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr9:17144200-17155000	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:17144400-17154400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr9:17146200-17167200	Weak transcription	Gastric	stomach
27	chr9:17146400-17155000	Weak transcription	A549	lung
28	chr9:17146600-17155600	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:17146600-17159200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr9:17146600-17160000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr9:17147400-17153800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:17147400-17155000	Weak transcription	Left Ventricle	heart
33	chr9:17148400-17154200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:17148600-17154000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:17148600-17157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr9:17148600-17159000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:17148800-17153800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:17148800-17153800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr9:17148800-17153800	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr9:17148800-17154400	Weak transcription	Ovary	ovary
41	chr9:17148800-17155000	Weak transcription	Adipose Nuclei	Adipose
42	chr9:17148800-17155200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:17148800-17155200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:17148800-17157000	Weak transcription	Fetal Heart	heart
45	chr9:17148800-17157800	Weak transcription	Osteobl	bone
46	chr9:17148800-17159400	Weak transcription	Fetal Kidney	kidney
47	chr9:17148800-17167400	Weak transcription	Dnd41	blood
48	chr9:17149000-17154000	Weak transcription	Fetal Lung	lung
49	chr9:17149000-17154400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:17149000-17154400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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