Variant report

Variant	rs7180934
Chromosome Location	chr15:72477015-72477016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72476582..72478189-chr7:104650247..104653086,2	MCF-7	breast:
2	chr15:72476500..72479008-chr15:72515049..72516702,2	MCF-7	breast:
3	chr15:72471247..72473901-chr15:72474760..72477219,3	MCF-7	breast:
4	chr15:72475748..72478253-chr15:72521364..72524573,3	MCF-7	breast:
5	chr15:72469515..72473441-chr15:72475665..72477509,3	K562	blood:
6	chr15:72476317..72477211-chr15:72493360..72493881,2	MCF-7	breast:
7	chr15:72475452..72478834-chr15:72520641..72523959,4	MCF-7	breast:
8	chr15:72476533..72478146-chr15:72764010..72766539,2	MCF-7	breast:
9	chr15:72476300..72478148-chr15:72481408..72483163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000067225	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10851849	1.00[EUR][1000 genomes]
rs11072348	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11072352	1.00[EUR][1000 genomes]
rs12593333	1.00[EUR][1000 genomes]
rs12903688	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1457030	1.00[ASW][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1598714	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1800431	1.00[EUR][1000 genomes]
rs2415131	1.00[ASW][hapmap];0.90[MKK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2856926	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2912208	1.00[EUR][1000 genomes]
rs2912209	1.00[EUR][1000 genomes]
rs2912211	1.00[EUR][1000 genomes]
rs2912212	1.00[EUR][1000 genomes]
rs2912213	1.00[EUR][1000 genomes]
rs2912218	1.00[EUR][1000 genomes]
rs2912232	1.00[EUR][1000 genomes]
rs2925647	1.00[EUR][1000 genomes]
rs2925651	1.00[EUR][1000 genomes]
rs2929516	1.00[EUR][1000 genomes]
rs2929520	1.00[EUR][1000 genomes]
rs2929523	1.00[EUR][1000 genomes]
rs2957367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957370	1.00[EUR][1000 genomes]
rs2957371	1.00[EUR][1000 genomes]
rs2957722	1.00[EUR][1000 genomes]
rs2957749	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs2959901	1.00[EUR][1000 genomes]
rs2959902	1.00[EUR][1000 genomes]
rs2959905	1.00[EUR][1000 genomes]
rs2959907	1.00[EUR][1000 genomes]
rs2959920	1.00[EUR][1000 genomes]
rs2959928	1.00[EUR][1000 genomes]
rs2959934	1.00[EUR][1000 genomes]
rs2959936	1.00[EUR][1000 genomes]
rs2959937	1.00[EUR][1000 genomes]
rs2959942	1.00[EUR][1000 genomes]
rs35293819	1.00[EUR][1000 genomes]
rs35514603	1.00[EUR][1000 genomes]
rs4238451	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4265763	1.00[EUR][1000 genomes]
rs4461029	1.00[EUR][1000 genomes]
rs4776585	0.81[AFR][1000 genomes]
rs4776587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4776588	1.00[EUR][1000 genomes]
rs4777487	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777493	0.90[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4777502	1.00[EUR][1000 genomes]
rs56168468	1.00[EUR][1000 genomes]
rs6494987	1.00[AMR][1000 genomes]
rs6494988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494989	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6494991	1.00[AMR][1000 genomes]
rs6494995	0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7170173	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7171097	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173348	1.00[EUR][1000 genomes]
rs7173532	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177512	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7179691	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8031658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8032957	1.00[ASW][hapmap];1.00[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs8034892	1.00[EUR][1000 genomes]
rs8037749	1.00[EUR][1000 genomes]
rs930871	1.00[ASW][hapmap];1.00[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
4	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
6	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72475000-72477200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:72476200-72477200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:72476200-72477200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
4	chr15:72476200-72477200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:72476200-72477200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr15:72476200-72477200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:72476200-72477200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:72476200-72477200	Enhancers	Gastric	stomach
9	chr15:72476200-72477200	Enhancers	Pancreas	Pancrea
10	chr15:72476200-72477200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr15:72476200-72477200	Bivalent Enhancer	Stomach Mucosa	stomach
12	chr15:72476200-72477200	Flanking Active TSS	HSMM	muscle
13	chr15:72476200-72477200	Flanking Active TSS	NHEK	skin
14	chr15:72476200-72477400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr15:72476400-72477200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:72476400-72477200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
17	chr15:72476400-72477200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
18	chr15:72476400-72477400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
19	chr15:72476600-72477200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr15:72476600-72477200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:72476600-72477200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:72476600-72477200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:72476600-72477200	Active TSS	Brain Anterior Caudate	brain
24	chr15:72476600-72477200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr15:72476600-72477200	Flanking Bivalent TSS/Enh	Placenta	Placenta
26	chr15:72476600-72477200	Flanking Bivalent TSS/Enh	NH-A	brain
27	chr15:72476600-72477400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr15:72476800-72477200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr15:72476800-72477200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:72476800-72477200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
31	chr15:72476800-72477200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr15:72476800-72477200	Flanking Bivalent TSS/Enh	HepG2	liver
33	chr15:72477000-72477200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
34	chr15:72477000-72477200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
35	chr15:72477000-72477200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr15:72477000-72477200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:72477000-72477200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:72477000-72477200	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:72477000-72477200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:72477000-72477200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:72477000-72477200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:72477000-72477200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:72477000-72477200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:72477000-72477200	Bivalent Enhancer	Adipose Nuclei	Adipose
45	chr15:72477000-72477200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr15:72477000-72477200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:72477000-72477200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
48	chr15:72477000-72477200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr15:72477000-72477200	Bivalent Enhancer	Fetal Muscle Leg	muscle
50	chr15:72477000-72477200	Active TSS	Right Ventricle	heart

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