Variant report

Variant	rs2814718
Chromosome Location	chr9:8851329-8851330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-17	chr9:8849956-8851724	ucscGeneNc_uc003zku_1

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10815984	1.00[YRI][hapmap]
rs10815986	1.00[YRI][hapmap]
rs10815987	1.00[YRI][hapmap]
rs10977333	1.00[YRI][hapmap]
rs12338219	1.00[YRI][hapmap]
rs12552174	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12552422	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13284801	1.00[YRI][hapmap]
rs1897789	1.00[YRI][hapmap]
rs2570305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2570965	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2814719	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7466280	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs767209	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][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	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
2	nsv892235	chr9:8700396-8865925	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1025800	chr9:8712487-9030627	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv539980	chr9:8712487-9030627	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv892236	chr9:8745520-8870553	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1015898	chr9:8753534-9011443	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2814718	RP11-75C9.1	cis	Artery Tibial	GTEx

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8835200-8852000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:8835200-8852400	Weak transcription	Aorta	Aorta
3	chr9:8843000-8852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr9:8843000-8855200	Weak transcription	Fetal Stomach	stomach
5	chr9:8843000-8856600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:8843200-8854200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:8844000-8854400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:8845800-8855600	Weak transcription	Ovary	ovary
9	chr9:8845800-8856600	Weak transcription	Psoas Muscle	Psoas
10	chr9:8846800-8852400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:8847000-8854600	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:8848600-8851400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr9:8850000-8853600	Enhancers	Brain Cingulate Gyrus	brain
14	chr9:8850200-8852400	Enhancers	Brain Substantia Nigra	brain
15	chr9:8850800-8851400	Enhancers	Fetal Brain Female	brain
16	chr9:8850800-8851600	Enhancers	Brain Germinal Matrix	brain
17	chr9:8850800-8851600	Enhancers	Fetal Lung	lung
18	chr9:8850800-8851800	Enhancers	Brain Hippocampus Middle	brain
19	chr9:8850800-8852800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:8850800-8853000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr9:8850800-8853000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:8850800-8853000	Enhancers	Fetal Kidney	kidney
23	chr9:8850800-8854600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr9:8850800-8854600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:8851000-8851800	Enhancers	Brain Angular Gyrus	brain
26	chr9:8851000-8851800	Enhancers	Fetal Heart	heart
27	chr9:8851000-8852000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:8851000-8852200	Enhancers	Fetal Brain Male	brain
29	chr9:8851000-8852600	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr9:8851000-8853400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr9:8851200-8851400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:8851200-8851800	Weak transcription	Brain Anterior Caudate	brain
33	chr9:8851200-8852200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr9:8851200-8856400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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