Variant report

Variant	rs17781288
Chromosome Location	chr14:42072408-42072409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131184	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10140527	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs10149052	0.81[AMR][1000 genomes]
rs10483526	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1103437	0.82[ASN][1000 genomes]
rs1111037	0.82[ASN][1000 genomes]
rs1111177	0.97[EUR][1000 genomes]
rs1111179	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11157240	0.84[EUR][1000 genomes]
rs11157241	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1137567	0.93[CEU][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12431444	0.98[EUR][1000 genomes]
rs12437380	0.82[ASN][1000 genomes]
rs12589043	0.82[EUR][1000 genomes]
rs12879030	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1609735	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs1950831	0.91[EUR][1000 genomes]
rs1950834	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1950835	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs1950836	0.86[EUR][1000 genomes]
rs1950838	0.92[EUR][1000 genomes]
rs1956445	0.91[ASN][1000 genomes]
rs1956450	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121708	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4356390	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55897228	0.91[ASN][1000 genomes]
rs61990271	0.82[ASN][1000 genomes]
rs61990273	0.82[ASN][1000 genomes]
rs61990274	0.82[ASN][1000 genomes]
rs61990275	0.82[ASN][1000 genomes]
rs61990286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990287	1.00[ASN][1000 genomes]
rs61990288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990289	0.97[EUR][1000 genomes]
rs6572099	0.91[EUR][1000 genomes]
rs7148091	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72684563	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8003822	0.91[EUR][1000 genomes]
rs8007172	0.90[EUR][1000 genomes]
rs8013655	0.92[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	nsv1047300	chr14:41671653-42361098	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831164	chr14:41673017-42103168	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv533968	chr14:41882101-42327882	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1042078	chr14:41993985-42120143	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758353	chr14:42045873-42259511	Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv2759983	chr14:42045873-42259511	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:42067000-42074000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:42067200-42073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:42067200-42073800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:42067400-42073600	Weak transcription	Placenta	Placenta
5	chr14:42069600-42073000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr14:42069800-42073800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:42070200-42076800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:42070600-42073000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:42070800-42077000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:42071000-42076200	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr14:42071200-42072600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr14:42071200-42073400	Weak transcription	Brain Angular Gyrus	brain
13	chr14:42071200-42073600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:42071200-42074600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:42071400-42073000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:42071400-42076200	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:42071400-42079800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr14:42071600-42074600	Active TSS	Fetal Stomach	stomach
19	chr14:42071800-42074800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr14:42072000-42072600	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:42072000-42072800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr14:42072000-42073000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:42072000-42078000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr14:42072200-42073000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr14:42072200-42073000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:42072200-42073600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
27	chr14:42072200-42073800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:42072200-42074200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:42072200-42076400	Active TSS	Fetal Lung	lung
30	chr14:42072400-42072600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr14:42072400-42072600	Active TSS	Fetal Kidney	kidney
32	chr14:42072400-42073000	Weak transcription	Fetal Heart	heart
33	chr14:42072400-42074600	Active TSS	NH-A	brain

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