Variant report

Variant	rs1512381
Chromosome Location	chr9:8635810-8635811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:8628676..8630702-chr9:8633940..8636402,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10125358	0.86[CEU][hapmap]
rs10758985	0.93[JPT][hapmap]
rs10977250	0.80[EUR][1000 genomes]
rs12115364	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12682677	0.88[EUR][1000 genomes]
rs12686075	0.87[EUR][1000 genomes]
rs12686078	0.83[EUR][1000 genomes]
rs1337805	0.86[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1415724	1.00[CEU][hapmap];0.81[JPT][hapmap];0.89[EUR][1000 genomes]
rs1434264	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs1434265	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs1512380	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16928221	0.86[CEU][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes]
rs16928238	0.86[CEU][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.93[JPT][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs16928282	0.93[CEU][hapmap]
rs2890818	1.00[CEU][hapmap];0.91[JPT][hapmap];0.83[TSI][hapmap];0.89[EUR][1000 genomes]
rs3817208	0.93[CEU][hapmap]
rs3817209	0.86[CEU][hapmap]
rs56150041	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56883748	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57726817	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59292968	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs60499554	0.83[EUR][1000 genomes]
rs60686483	0.85[EUR][1000 genomes]
rs61002972	0.83[EUR][1000 genomes]
rs67775498	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7021243	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7030931	1.00[CEU][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs7040154	0.81[CEU][hapmap]
rs7042493	0.84[EUR][1000 genomes]
rs7048587	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs72698256	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72700324	0.86[EUR][1000 genomes]
rs72700331	0.84[EUR][1000 genomes]
rs7868744	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031472	chr9:8250901-8712547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1022796	chr9:8360729-9110046	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv892228	chr9:8482778-8703733	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv831504	chr9:8496277-8665773	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv892230	chr9:8569186-8643259	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv892231	chr9:8569186-8659757	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8616800-8648000	Weak transcription	Fetal Kidney	kidney
2	chr9:8622000-8648600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr9:8623400-8647800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:8625400-8636800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:8628400-8643600	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:8628600-8637200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:8628800-8644000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:8628800-8644200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr9:8629800-8651600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr9:8630000-8640800	Weak transcription	Fetal Heart	heart
11	chr9:8630200-8652400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:8631000-8649800	Weak transcription	Ovary	ovary
13	chr9:8632000-8636000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr9:8632800-8636800	Weak transcription	Fetal Brain Male	brain
15	chr9:8633000-8638400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:8633200-8644200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:8633600-8636200	Weak transcription	Brain Substantia Nigra	brain
18	chr9:8634000-8641000	Weak transcription	Fetal Lung	lung
19	chr9:8634200-8643800	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:8634600-8648000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:8635400-8637400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:8635800-8636600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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