Variant report

Variant	rs67447954
Chromosome Location	chr15:52493518-52493519
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:52473146..52475949-chr15:52491813..52494076,2	MCF-7	breast:
2	chr15:52485700..52488644-chr15:52493368..52494884,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1077383	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11070882	0.88[AMR][1000 genomes]
rs11855672	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11856177	0.83[AMR][1000 genomes]
rs12438743	0.81[AMR][1000 genomes]
rs12593936	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12593939	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12595160	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12901730	0.81[AMR][1000 genomes]
rs12901891	0.81[AMR][1000 genomes]
rs12902073	0.81[AMR][1000 genomes]
rs12903539	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12903769	0.81[AMR][1000 genomes]
rs12916135	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34276836	0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs35712143	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35827106	0.88[AMR][1000 genomes]
rs4774612	0.91[ASN][1000 genomes]
rs4776010	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4776011	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4776013	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4776014	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66566761	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66757864	0.81[AFR][1000 genomes]
rs67163040	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67725996	0.81[EUR][1000 genomes]
rs71472930	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7164508	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172037	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7183278	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8025737	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1054372	chr15:52369078-52579464	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv542387	chr15:52369078-52579464	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv833005	chr15:52389869-52541330	Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv904220	chr15:52485024-52526507	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 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	chr15:52473200-52513600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr15:52473400-52496400	Weak transcription	Brain Anterior Caudate	brain
3	chr15:52473400-52496400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr15:52473400-52496600	Weak transcription	Spleen	Spleen
5	chr15:52473600-52512400	Weak transcription	Primary B cells from cord blood	blood
6	chr15:52475800-52505600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:52477600-52497000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr15:52477600-52497200	Weak transcription	Stomach Mucosa	stomach
9	chr15:52477800-52494800	Weak transcription	Fetal Intestine Large	intestine
10	chr15:52478000-52496200	Weak transcription	Liver	Liver
11	chr15:52479600-52495400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:52479600-52496400	Weak transcription	Esophagus	oesophagus
13	chr15:52479800-52532800	Weak transcription	Brain Angular Gyrus	brain
14	chr15:52481600-52496600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr15:52482600-52496200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr15:52483600-52496400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:52483800-52497000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:52484200-52496400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:52484200-52497000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:52484200-52498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:52484200-52503200	Weak transcription	Lung	lung
22	chr15:52484400-52503800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr15:52486000-52496400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:52486000-52505800	Weak transcription	Psoas Muscle	Psoas
25	chr15:52486400-52496200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:52486600-52496600	Weak transcription	Adipose Nuclei	Adipose
27	chr15:52487400-52496200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:52487400-52496800	Weak transcription	Left Ventricle	heart
29	chr15:52487400-52505200	Weak transcription	Thymus	Thymus
30	chr15:52488600-52494400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:52488600-52496200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr15:52488600-52497000	Weak transcription	Aorta	Aorta
33	chr15:52488600-52509800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:52488800-52496400	Weak transcription	Fetal Intestine Small	intestine
35	chr15:52488800-52496400	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:52488800-52505600	Weak transcription	Fetal Kidney	kidney
37	chr15:52489000-52494400	Weak transcription	Gastric	stomach
38	chr15:52489000-52496000	Weak transcription	Colonic Mucosa	Colon
39	chr15:52489200-52496200	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:52489200-52496800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr15:52489200-52520800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:52489200-52523800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:52489400-52496000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:52489400-52496200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:52489600-52494800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:52489600-52496000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr15:52489600-52496000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:52489800-52495400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:52490400-52496400	Weak transcription	Primary T cells from cord blood	blood
50	chr15:52490400-52503000	Weak transcription	Brain Hippocampus Middle	brain

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