Variant report

Variant	rs60044157
Chromosome Location	chr5:179483405-179483406
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179477454..179480172-chr5:179480653..179484113,3	MCF-7	breast:
2	chr5:179466250..179468313-chr5:179480534..179483405,2	MCF-7	breast:
3	chr5:179481868..179484254-chr5:179494865..179496879,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10067073	0.90[EUR][1000 genomes]
rs10072792	0.90[EUR][1000 genomes]
rs12521819	0.90[EUR][1000 genomes]
rs13354862	0.90[EUR][1000 genomes]
rs28478989	0.90[EUR][1000 genomes]
rs58286692	0.95[EUR][1000 genomes]
rs59150995	0.90[EUR][1000 genomes]
rs59668758	0.90[EUR][1000 genomes]
rs60388708	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
2	nsv1030437	chr5:179235423-179649944	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
3	nsv537982	chr5:179235423-179649944	Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv948909	chr5:179249099-179772640	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers 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	175 gene(s)	inside rSNPs	diseases
5	nsv830561	chr5:179365637-179537012	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
6	nsv1033706	chr5:179402769-179806356	Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv1024592	chr5:179443133-179510642	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179461800-179483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:179465400-179484200	Weak transcription	Aorta	Aorta
3	chr5:179472400-179496600	Weak transcription	Stomach Mucosa	stomach
4	chr5:179473800-179484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:179473800-179488000	Weak transcription	Fetal Stomach	stomach
6	chr5:179474000-179484000	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:179474000-179496200	Weak transcription	Primary B cells from cord blood	blood
8	chr5:179476000-179484400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:179476000-179497800	Weak transcription	Lung	lung
10	chr5:179476400-179486200	Weak transcription	Ovary	ovary
11	chr5:179476400-179487000	Weak transcription	Fetal Muscle Leg	muscle
12	chr5:179476400-179496800	Weak transcription	Right Ventricle	heart
13	chr5:179477400-179483800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:179477400-179494000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr5:179477400-179495000	Weak transcription	Gastric	stomach
16	chr5:179477600-179483600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:179477600-179486200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:179478000-179496800	Weak transcription	Right Atrium	heart
19	chr5:179478400-179484200	Enhancers	Brain Hippocampus Middle	brain
20	chr5:179478800-179493800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:179479800-179496800	Weak transcription	Psoas Muscle	Psoas
22	chr5:179480000-179484000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:179480000-179485400	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr5:179480200-179486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr5:179480200-179486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:179480400-179488200	Weak transcription	Fetal Brain Male	brain
27	chr5:179480600-179494000	Weak transcription	Fetal Lung	lung
28	chr5:179480600-179496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:179481200-179496600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr5:179481400-179484800	Weak transcription	Brain Germinal Matrix	brain
31	chr5:179481600-179483600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:179481600-179485200	Weak transcription	Fetal Brain Female	brain
33	chr5:179481600-179494600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr5:179481800-179484600	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:179482000-179483600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:179482000-179483800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:179482000-179483800	Weak transcription	Brain Substantia Nigra	brain
38	chr5:179482000-179490200	Weak transcription	HepG2	liver
39	chr5:179482200-179483800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:179482400-179484000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179482400-179484200	Enhancers	Brain Anterior Caudate	brain
42	chr5:179482400-179484600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr5:179482400-179484800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:179482600-179483800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:179482600-179496600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:179483000-179484200	Enhancers	NHEK	skin
47	chr5:179483000-179484400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:179483200-179483600	Enhancers	HUVEC	blood vessel
49	chr5:179483200-179484200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:179483200-179484200	Enhancers	HMEC	breast

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