Variant report

Variant	rs1718976
Chromosome Location	chr15:30206830-30206831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1403354	0.90[AFR][1000 genomes]
rs1522790	0.90[AFR][1000 genomes]
rs1546748	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1554528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1618252	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16954843	0.85[EUR][1000 genomes]
rs1718974	0.90[AFR][1000 genomes]
rs1718978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1718980	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1718981	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1719032	0.90[AFR][1000 genomes]
rs1719033	0.90[AFR][1000 genomes]
rs1719036	0.90[AFR][1000 genomes]
rs1719039	1.00[ASN][1000 genomes]
rs1719332	0.89[AFR][1000 genomes]
rs1719339	1.00[CEU][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1719351	0.87[YRI][hapmap]
rs2948554	0.90[AFR][1000 genomes]
rs57805155	1.00[ASN][1000 genomes]
rs73371163	0.88[EUR][1000 genomes]
rs8027720	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs867024	0.90[AFR][1000 genomes]
rs867025	0.90[AFR][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	nsv456736	chr15:29327352-30208654	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv568675	chr15:29327352-30208654	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv995038	chr15:29744279-30366124	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1038495	chr15:29825859-30351687	Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv542293	chr15:29825859-30351687	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422463	chr15:30003189-30215336	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv903754	chr15:30023454-30382120	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	nsv903755	chr15:30036085-30351434	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv482572	chr15:30118905-30304529	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv456739	chr15:30178614-30366247	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv568716	chr15:30178614-30366247	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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
12	nsv431371	chr15:30193316-31012794	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:30193400-30209800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:30204200-30207200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr15:30204200-30207400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr15:30204200-30207800	Enhancers	Brain Angular Gyrus	brain
5	chr15:30204600-30207200	Enhancers	NH-A	brain
6	chr15:30204600-30207400	Enhancers	Brain Cingulate Gyrus	brain
7	chr15:30205000-30207000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr15:30205000-30207200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr15:30205000-30207400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr15:30205000-30207600	Enhancers	Fetal Heart	heart
11	chr15:30205200-30207000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:30205200-30207000	Enhancers	Colon Smooth Muscle	Colon
13	chr15:30205200-30207000	Enhancers	NHDF-Ad	bronchial
14	chr15:30205200-30207200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:30205200-30207200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr15:30205600-30207400	Enhancers	Fetal Lung	lung
17	chr15:30205600-30207400	Enhancers	Rectal Smooth Muscle	rectum
18	chr15:30205600-30209800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:30205800-30207000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:30205800-30207000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:30205800-30207200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr15:30205800-30207200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:30205800-30207200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr15:30205800-30207200	Enhancers	Fetal Kidney	kidney
25	chr15:30205800-30207200	Enhancers	A549	lung
26	chr15:30205800-30207600	Enhancers	Fetal Brain Male	brain
27	chr15:30206200-30207000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:30206200-30207200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:30206400-30207000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:30206400-30207000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr15:30206400-30207200	Enhancers	Right Atrium	heart
32	chr15:30206400-30212400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr15:30206600-30207000	Enhancers	Placenta	Placenta
34	chr15:30206600-30207200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:30206600-30207200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:30206600-30207200	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr15:30206600-30207200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:30206600-30207200	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr15:30206600-30207200	Enhancers	Fetal Brain Female	brain
40	chr15:30206600-30207200	Enhancers	Left Ventricle	heart
41	chr15:30206600-30207200	Enhancers	Pancreas	Pancrea
42	chr15:30206600-30207200	Enhancers	Right Ventricle	heart
43	chr15:30206600-30209400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:30206600-30209600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:30206800-30207000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:30206800-30207000	Enhancers	Brain Substantia Nigra	brain
47	chr15:30206800-30207200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr15:30206800-30207200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:30206800-30207200	Flanking Active TSS	Brain Anterior Caudate	brain
50	chr15:30206800-30207200	Enhancers	Lung	lung

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