Variant report

Variant	rs12115663
Chromosome Location	chr9:16517953-16517954
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17811225	0.94[CEU][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1927631	0.89[CEU][hapmap]
rs34821834	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67498978	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67602727	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530933	chr9:16251206-16830845	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv530934	chr9:16281246-16779432	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1032856	chr9:16465330-16773471	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv540073	chr9:16465330-16773471	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv892647	chr9:16476144-16521534	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16514000-16518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr9:16514000-16518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr9:16514000-16518000	Enhancers	NHLF	lung
4	chr9:16514000-16518000	Enhancers	Osteobl	bone
5	chr9:16514400-16519400	Weak transcription	Psoas Muscle	Psoas
6	chr9:16514800-16518000	Enhancers	A549	lung
7	chr9:16514800-16518400	Enhancers	HUVEC	blood vessel
8	chr9:16515400-16518000	Enhancers	Rectal Smooth Muscle	rectum
9	chr9:16515600-16518200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr9:16515600-16518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr9:16515600-16519600	Weak transcription	Fetal Brain Male	brain
12	chr9:16515600-16522000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:16515600-16532600	Weak transcription	Aorta	Aorta
14	chr9:16516200-16519400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr9:16516200-16521200	Weak transcription	Fetal Muscle Leg	muscle
16	chr9:16516200-16521600	Weak transcription	HSMMtube	muscle
17	chr9:16516200-16521800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr9:16516200-16522000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:16516200-16522000	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:16516200-16522000	Weak transcription	Left Ventricle	heart
21	chr9:16516200-16522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:16516200-16524800	Weak transcription	Lung	lung
23	chr9:16516400-16518000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:16516400-16518000	Enhancers	Fetal Lung	lung
25	chr9:16516400-16518200	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:16516400-16518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr9:16516400-16519800	Weak transcription	Right Atrium	heart
28	chr9:16516400-16521000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:16516600-16518000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:16516600-16518000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:16516600-16518200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:16517000-16522000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:16517200-16518200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:16517200-16518800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:16517200-16519000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:16517200-16519200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:16517200-16519400	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr9:16517200-16520000	Weak transcription	NHDF-Ad	bronchial
39	chr9:16517200-16521400	Weak transcription	Brain Substantia Nigra	brain
40	chr9:16517200-16521400	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:16517200-16521400	Weak transcription	HSMM	muscle
42	chr9:16517200-16522000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:16517200-16522000	Weak transcription	Fetal Thymus	thymus
44	chr9:16517200-16522000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr9:16517200-16526800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr9:16517400-16518600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr9:16517400-16519400	Weak transcription	Ovary	ovary
48	chr9:16517400-16520200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr9:16517600-16518800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:16517600-16518800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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