Variant report

Variant	rs12006539
Chromosome Location	chr9:14815099-14815100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14813259..14815238-chr9:14818255..14820615,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11998769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000514	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000879	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12001036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12005966	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874106	1.00[YRI][hapmap]
rs1874107	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56997619	1.00[EUR][1000 genomes]
rs58593445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7032005	1.00[EUR][1000 genomes]
rs7032310	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs7048967	1.00[EUR][1000 genomes]
rs73642423	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73644855	1.00[EUR][1000 genomes]
rs7847406	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7847511	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7851554	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7853879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7854516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7854676	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7855357	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7862726	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7863399	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7864984	1.00[EUR][1000 genomes]
rs7867514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7868150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	esv2761502	chr9:14757877-14827373	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv831518	chr9:14760638-14953501	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1030626	chr9:14786215-14853681	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv540071	chr9:14786215-14853681	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv892617	chr9:14791348-14889834	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv613646	chr9:14800779-14852141	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1031440	chr9:14805107-14859190	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv540072	chr9:14805107-14859190	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv892618	chr9:14811971-14844777	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14779800-14853200	Weak transcription	Placenta	Placenta
2	chr9:14780400-14843200	Weak transcription	Fetal Heart	heart
3	chr9:14782000-14822000	Weak transcription	Fetal Brain Male	brain
4	chr9:14782800-14822000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr9:14793000-14822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr9:14801800-14857200	Strong transcription	HepG2	liver
7	chr9:14803600-14818000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:14807200-14822800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:14809200-14847600	Weak transcription	Fetal Intestine Small	intestine
11	chr9:14810200-14831400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:14810400-14849600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:14811800-14815200	Strong transcription	Colon Smooth Muscle	Colon
14	chr9:14813000-14815800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:14813000-14816400	Weak transcription	Aorta	Aorta
16	chr9:14813000-14816400	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:14813000-14823000	Weak transcription	Fetal Intestine Large	intestine
18	chr9:14813200-14820000	Weak transcription	Fetal Stomach	stomach
19	chr9:14813200-14821600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr9:14813400-14815600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:14813400-14817400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:14814200-14820400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:14814200-14842200	Weak transcription	Pancreas	Pancrea
24	chr9:14814400-14816600	Weak transcription	Fetal Lung	lung
25	chr9:14814600-14815200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:14814800-14815200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:14815000-14815400	Strong transcription	Fetal Kidney	kidney
28	chr9:14815000-14824600	Strong transcription	Adipose Nuclei	Adipose

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