Variant report

Variant	rs7022474
Chromosome Location	chr9:16514292-16514293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12000862	1.00[AMR][1000 genomes]
rs1927631	1.00[YRI][hapmap]
rs34861043	1.00[AMR][1000 genomes]
rs60889821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7022729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7037413	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7037497	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7041001	0.89[AFR][1000 genomes]
rs7044870	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417420	0.89[AFR][1000 genomes]
rs73417424	0.89[AFR][1000 genomes]
rs73417434	0.97[AFR][1000 genomes]
rs73417447	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73417449	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv892646	chr9:16476144-16514375	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS	lncRNA	n/a	inside rSNPs	diseases
6	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
7	nsv466265	chr9:16484731-16516941	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	n/a	n/a	inside rSNPs	diseases
8	nsv613670	chr9:16484731-16516941	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16506000-16515200	Weak transcription	Adipose Nuclei	Adipose
2	chr9:16506200-16515000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:16510200-16514800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:16510200-16515000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr9:16510200-16515200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:16510200-16515400	Weak transcription	Aorta	Aorta
7	chr9:16510400-16515000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:16510400-16515200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:16510600-16514800	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:16510600-16514800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr9:16510600-16514800	Weak transcription	NH-A	brain
12	chr9:16510600-16515000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr9:16511000-16515000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:16511400-16514800	Weak transcription	HUVEC	blood vessel
15	chr9:16512000-16515400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:16512400-16517400	Enhancers	Ovary	ovary
17	chr9:16513000-16515400	Weak transcription	Gastric	stomach
18	chr9:16513600-16514400	Enhancers	Psoas Muscle	Psoas
19	chr9:16513600-16514600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:16513600-16515200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:16513600-16517200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:16513600-16517200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr9:16513600-16517400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr9:16513800-16517200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr9:16513800-16517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:16513800-16517600	Enhancers	Fetal Stomach	stomach
27	chr9:16513800-16517800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:16514000-16514400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr9:16514000-16515000	Enhancers	Fetal Lung	lung
30	chr9:16514000-16515200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr9:16514000-16515800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr9:16514000-16516000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr9:16514000-16516200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:16514000-16516200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:16514000-16516200	Enhancers	HSMMtube	muscle
36	chr9:16514000-16516600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr9:16514000-16517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:16514000-16517200	Enhancers	HSMM	muscle
39	chr9:16514000-16517400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr9:16514000-16517600	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:16514000-16517800	Enhancers	Colon Smooth Muscle	Colon
42	chr9:16514000-16518000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:16514000-16518000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr9:16514000-16518000	Enhancers	NHLF	lung
45	chr9:16514000-16518000	Enhancers	Osteobl	bone
46	chr9:16514200-16514400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:16514200-16514400	Enhancers	Brain Cingulate Gyrus	brain
48	chr9:16514200-16514400	Enhancers	A549	lung
49	chr9:16514200-16514600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:16514200-16514600	Enhancers	Fetal Thymus	thymus

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