Variant report

Variant	rs16924682
Chromosome Location	chr9:6552278-6552279
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:6550978..6552657-chr9:6561789..6563568,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10465093	0.91[CEU][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10739103	1.00[YRI][hapmap]
rs10815441	0.91[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10975637	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1156869	1.00[YRI][hapmap]
rs12347488	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12685035	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13283631	1.00[YRI][hapmap]
rs13283687	1.00[YRI][hapmap]
rs13284032	1.00[YRI][hapmap]
rs13286720	1.00[YRI][hapmap]
rs13288875	1.00[YRI][hapmap]
rs13290126	1.00[YRI][hapmap]
rs13291887	1.00[YRI][hapmap]
rs13292030	1.00[YRI][hapmap]
rs13300059	1.00[YRI][hapmap]
rs1563	1.00[YRI][hapmap]
rs16924678	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1811943	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2282158	1.00[ASW][hapmap];0.92[CEU][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2297443	1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34948145	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3818705	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4742198	1.00[YRI][hapmap]
rs55736048	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7043824	1.00[YRI][hapmap]
rs7854679	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7858290	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs922221	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031086	chr9:5806949-6630686	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv539967	chr9:5806949-6630686	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv933124	chr9:6099101-6644738	Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1029000	chr9:6188652-6687205	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
5	nsv1031459	chr9:6216913-6657192	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv948562	chr9:6222553-6684955	Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
7	nsv1032350	chr9:6328167-6630686	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv831497	chr9:6377501-6612402	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv892162	chr9:6480005-6788085	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv831498	chr9:6496021-6689728	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	nsv934176	chr9:6517535-6644738	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv892163	chr9:6523056-6632061	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1025627	chr9:6523056-6648098	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv2752308	chr9:6523060-6899149	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
15	nsv613206	chr9:6525753-6686738	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
16	esv3324686	chr9:6528411-6728310	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
17	nsv1028402	chr9:6542253-6874231	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
18	nsv1018308	chr9:6544766-6869653	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
19	nsv1015462	chr9:6544766-6874231	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
20	nsv1018870	chr9:6548393-6708345	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:6498800-6554400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:6510400-6558800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:6528600-6558000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:6530800-6563200	Weak transcription	A549	lung
5	chr9:6532000-6570400	Strong transcription	Liver	Liver
6	chr9:6533200-6559800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:6534600-6558200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:6544000-6554600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:6544400-6558000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:6545600-6554400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr9:6547000-6557800	Weak transcription	Brain Hippocampus Middle	brain
12	chr9:6547200-6560600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:6548000-6558000	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr9:6548400-6557800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr9:6549000-6557800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr9:6549600-6553400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:6549600-6553600	Weak transcription	Fetal Brain Male	brain
18	chr9:6549600-6558200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:6550000-6557600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr9:6550200-6556800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:6550200-6557600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:6550400-6557800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:6550800-6552800	Enhancers	HSMMtube	muscle
24	chr9:6550800-6553000	Enhancers	Fetal Stomach	stomach
25	chr9:6551000-6552400	Enhancers	Osteobl	bone
26	chr9:6551000-6553200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:6551000-6553200	Enhancers	NHLF	lung
28	chr9:6551000-6553400	Enhancers	Brain Germinal Matrix	brain
29	chr9:6551200-6552800	Enhancers	Hela-S3	cervix
30	chr9:6551200-6553000	Enhancers	Fetal Lung	lung
31	chr9:6551200-6553800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr9:6551200-6553800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:6551200-6553800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:6551400-6552400	Enhancers	NH-A	brain
35	chr9:6551400-6553200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:6551400-6553600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:6551400-6553800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:6551400-6557800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr9:6551600-6552600	Enhancers	Ovary	ovary
40	chr9:6551600-6552600	Enhancers	HSMM	muscle
41	chr9:6551600-6552800	Weak transcription	GM12878-XiMat	blood
42	chr9:6551600-6553200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:6551600-6553400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:6551600-6553400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr9:6551600-6554000	Enhancers	Fetal Muscle Leg	muscle
46	chr9:6551800-6552600	Enhancers	Colon Smooth Muscle	Colon
47	chr9:6551800-6552800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr9:6551800-6553000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr9:6551800-6553000	Enhancers	Brain Cingulate Gyrus	brain
50	chr9:6551800-6553000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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