Variant report

Variant	rs8030514
Chromosome Location	chr15:59348977-59348978
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	chr15:59344021..59346985-chr15:59348905..59351426,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10518998	0.94[EUR][1000 genomes]
rs11574500	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11574501	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13498	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16940958	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs16940976	0.85[AMR][1000 genomes]
rs16941012	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16941048	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16941077	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs28383495	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28739021	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28739025	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs57164516	0.82[EUR][1000 genomes]
rs6494052	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6494058	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494067	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7164061	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171252	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7173787	0.85[AMR][1000 genomes]
rs7173999	0.89[EUR][1000 genomes]
rs7175697	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7177112	1.00[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180666	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7181728	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74017367	0.89[EUR][1000 genomes]
rs8026039	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8027376	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs8030811	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8032299	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8035952	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8041633	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8042601	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv510663	chr15:59310676-59370041	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
8	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59281200-59352600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:59281800-59352200	Weak transcription	Aorta	Aorta
3	chr15:59281800-59353400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:59283800-59359000	Weak transcription	Fetal Brain Male	brain
5	chr15:59288400-59351200	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:59295200-59349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:59305400-59354400	Weak transcription	Gastric	stomach
8	chr15:59306000-59353400	Weak transcription	Fetal Heart	heart
9	chr15:59308400-59358000	Weak transcription	Spleen	Spleen
10	chr15:59309200-59359000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:59323600-59359000	Weak transcription	Esophagus	oesophagus
12	chr15:59324000-59350600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr15:59324000-59350600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:59324000-59351000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr15:59325000-59354800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr15:59325400-59350000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:59325400-59352000	Weak transcription	Fetal Lung	lung
18	chr15:59325800-59350600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr15:59326400-59349400	Weak transcription	Colon Smooth Muscle	Colon
20	chr15:59326400-59365200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr15:59328800-59350600	Weak transcription	Brain Germinal Matrix	brain
22	chr15:59329000-59350800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr15:59329200-59349000	Weak transcription	NHEK	skin
24	chr15:59329200-59352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr15:59329200-59352600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr15:59329400-59352600	Weak transcription	Pancreas	Pancrea
27	chr15:59331000-59351600	Weak transcription	Fetal Brain Female	brain
28	chr15:59332400-59350600	Weak transcription	Thymus	Thymus
29	chr15:59332400-59358200	Weak transcription	Brain Cingulate Gyrus	brain
30	chr15:59335800-59350600	Weak transcription	Lung	lung
31	chr15:59335800-59354400	Weak transcription	Psoas Muscle	Psoas
32	chr15:59336000-59349000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr15:59339800-59352600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr15:59340000-59350000	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:59340000-59352600	Weak transcription	Ovary	ovary
36	chr15:59340200-59349000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr15:59340200-59350600	Weak transcription	Fetal Stomach	stomach
38	chr15:59341000-59353600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:59341400-59350600	Weak transcription	Left Ventricle	heart
40	chr15:59342400-59364400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr15:59342400-59365400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr15:59344200-59356200	Strong transcription	K562	blood
43	chr15:59344200-59364400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr15:59344200-59364400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:59344400-59354600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr15:59344400-59356200	Strong transcription	A549	lung
47	chr15:59344400-59358000	Weak transcription	Right Ventricle	heart
48	chr15:59344400-59363200	Strong transcription	Duodenum Mucosa	Duodenum
49	chr15:59344400-59364200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr15:59344400-59392800	Strong transcription	Monocytes-CD14+_RO01746	blood

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