Variant report

Variant	rs514472
Chromosome Location	chr15:34277548-34277549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12437606	0.81[ASN][1000 genomes]
rs12442535	0.84[ASN][1000 genomes]
rs12903907	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1436922	1.00[JPT][hapmap]
rs1987381	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1987382	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1987383	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2632073	0.81[ASN][1000 genomes]
rs2632077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2632110	0.81[ASN][1000 genomes]
rs2684942	1.00[EUR][1000 genomes]
rs2705338	1.00[JPT][hapmap]
rs483279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs486230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488762	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489619	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489945	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519152	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs519210	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs520032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568229	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs639860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs640291	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs646339	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs647721	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175933	1.00[JPT][hapmap]
rs74007651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74007652	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672432	0.81[ASN][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	nsv1043046	chr15:33714908-34321330	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv456789	chr15:34034421-34426618	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv568920	chr15:34034421-34426618	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
4	nsv471235	chr15:34035529-34421951	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1044844	chr15:34065524-34296829	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv456790	chr15:34264018-34281733	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv568923	chr15:34264018-34281733	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2761666	chr15:34275262-34279231	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
9	nsv516347	chr15:34276169-34277907	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
10	nsv456791	chr15:34276169-34277907	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	inside rSNPs	diseases
11	nsv456792	chr15:34276169-34277907	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
12	nsv568924	chr15:34276169-34277907	Flanking Active TSS Weak transcription Enhancers	TF binding region	1 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	chr15:34238000-34282400	Weak transcription	Ovary	ovary
2	chr15:34264800-34281200	Weak transcription	GM12878-XiMat	blood
3	chr15:34265200-34299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:34265400-34294200	Weak transcription	Fetal Stomach	stomach
5	chr15:34265400-34311800	Weak transcription	Liver	Liver
6	chr15:34273000-34277600	Weak transcription	NHEK	skin
7	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
8	chr15:34275400-34293200	Weak transcription	Primary T cells from cord blood	blood
9	chr15:34276800-34277600	Enhancers	HepG2	liver
10	chr15:34276800-34278200	Enhancers	Brain Cingulate Gyrus	brain
11	chr15:34276800-34278200	Enhancers	Brain Substantia Nigra	brain
12	chr15:34276800-34278400	Enhancers	Brain Hippocampus Middle	brain
13	chr15:34276800-34278400	Enhancers	Placenta	Placenta
14	chr15:34277000-34277800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr15:34277000-34278000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr15:34277000-34278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:34277000-34278000	Enhancers	Adipose Nuclei	Adipose
18	chr15:34277000-34278000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr15:34277000-34278200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr15:34277000-34278200	Enhancers	HSMMtube	muscle
21	chr15:34277200-34277600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:34277200-34277600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:34277200-34278000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr15:34277200-34278000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:34277200-34278000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr15:34277200-34278000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr15:34277200-34278000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr15:34277200-34278000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr15:34277200-34278000	Enhancers	Brain Anterior Caudate	brain
30	chr15:34277200-34278000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:34277200-34278000	Enhancers	Left Ventricle	heart
32	chr15:34277200-34278000	Enhancers	Rectal Smooth Muscle	rectum
33	chr15:34277200-34278200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr15:34277200-34278200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr15:34277200-34278200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr15:34277200-34278200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:34277200-34278200	Enhancers	Brain Angular Gyrus	brain
38	chr15:34277200-34278200	Enhancers	NH-A	brain
39	chr15:34277200-34278400	Enhancers	HSMM	muscle
40	chr15:34277400-34277600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:34277400-34277600	Enhancers	Thymus	Thymus
42	chr15:34277400-34277600	Flanking Active TSS	Osteobl	bone
43	chr15:34277400-34277800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr15:34277400-34277800	Enhancers	Pancreas	Pancrea
45	chr15:34277400-34277800	Enhancers	Psoas Muscle	Psoas
46	chr15:34277400-34278000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr15:34277400-34278000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr15:34277400-34278000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr15:34277400-34278000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr15:34277400-34278000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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