Variant report

Variant	rs11788016
Chromosome Location	chr9:18439070-18439071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10511638	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511655	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10511657	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10963615	0.91[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789771	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11789989	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11792038	1.00[CEU][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11793618	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11794163	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538735	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936729	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936798	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205346	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205520	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17205912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206286	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206601	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206657	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206965	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207028	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17207294	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17799670	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17801150	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17801409	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832637	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1832746	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs2153419	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7031222	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs725837	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7863523	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831522	chr9:18231982-18459492	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2764161	chr9:18247433-18443060	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18436600-18439400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:18437400-18439200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:18437600-18439200	Flanking Active TSS	Osteobl	bone
4	chr9:18437600-18439400	Flanking Active TSS	HUVEC	blood vessel
5	chr9:18437800-18439200	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr9:18437800-18439200	Active TSS	Aorta	Aorta
7	chr9:18437800-18439200	Active TSS	Brain Anterior Caudate	brain
8	chr9:18437800-18439200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
9	chr9:18437800-18439200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr9:18437800-18439200	Active TSS	Right Atrium	heart
11	chr9:18438000-18439200	Active TSS	Ovary	ovary
12	chr9:18438200-18439200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr9:18438200-18439200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:18438200-18439200	Active TSS	Colon Smooth Muscle	Colon
15	chr9:18438200-18439200	Active TSS	Fetal Brain Female	brain
16	chr9:18438200-18439200	Active TSS	Rectal Smooth Muscle	rectum
17	chr9:18438200-18439200	Active TSS	HSMMtube	muscle
18	chr9:18438200-18439400	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr9:18438400-18439200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
20	chr9:18438400-18439200	Flanking Active TSS	Fetal Brain Male	brain
21	chr9:18438400-18439400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr9:18438400-18440600	Enhancers	Fetal Heart	heart
23	chr9:18438400-18441200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:18438600-18439200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr9:18438600-18439200	Enhancers	Hela-S3	cervix
26	chr9:18438800-18439200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr9:18438800-18439200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr9:18438800-18439200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr9:18439000-18439200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr9:18439000-18439200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr9:18439000-18439200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
32	chr9:18439000-18439200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:18439000-18439200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:18439000-18439200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr9:18439000-18439200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:18439000-18439200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:18439000-18439200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr9:18439000-18439200	Enhancers	Liver	Liver
39	chr9:18439000-18439200	Flanking Active TSS	Brain Angular Gyrus	brain
40	chr9:18439000-18439200	Flanking Active TSS	Brain Cingulate Gyrus	brain
41	chr9:18439000-18439200	Enhancers	Brain Germinal Matrix	brain
42	chr9:18439000-18439200	Flanking Active TSS	Brain Hippocampus Middle	brain
43	chr9:18439000-18439200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
44	chr9:18439000-18439200	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr9:18439000-18439200	Bivalent Enhancer	Fetal Intestine Small	intestine
46	chr9:18439000-18439200	Flanking Active TSS	Fetal Lung	lung
47	chr9:18439000-18439200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr9:18439000-18439200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr9:18439000-18439200	Enhancers	Placenta	Placenta
50	chr9:18439000-18439200	Enhancers	Gastric	stomach

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