Variant report

Variant	rs4700854
Chromosome Location	chr5:179481789-179481790
allele	C/T
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	chr5:179474557..179476078-chr5:179480075..179482538,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10051632	0.82[AFR][1000 genomes]
rs10051694	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10056316	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10056991	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059400	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10066845	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071652	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079029	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10464058	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11249663	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249664	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249665	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249666	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11739706	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11748441	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11750102	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435998	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17681274	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3776946	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3776948	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4235505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4264913	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700859	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57008562	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57117216	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61356660	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62404970	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62404974	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62404976	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404977	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404979	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62405015	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601077	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6601078	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869349	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873317	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873639	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729516	0.90[EUR][1000 genomes]
rs7734329	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9329095	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179429800-179482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:179461800-179483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:179463800-179482200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr5:179464800-179483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:179465400-179484200	Weak transcription	Aorta	Aorta
6	chr5:179467400-179483200	Weak transcription	HSMM	muscle
7	chr5:179472400-179496600	Weak transcription	Stomach Mucosa	stomach
8	chr5:179473200-179482000	Enhancers	Brain Substantia Nigra	brain
9	chr5:179473800-179484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:179473800-179488000	Weak transcription	Fetal Stomach	stomach
11	chr5:179474000-179484000	Enhancers	Brain Cingulate Gyrus	brain
12	chr5:179474000-179496200	Weak transcription	Primary B cells from cord blood	blood
13	chr5:179475800-179483400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:179476000-179484400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:179476000-179497800	Weak transcription	Lung	lung
16	chr5:179476400-179486200	Weak transcription	Ovary	ovary
17	chr5:179476400-179487000	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:179476400-179496800	Weak transcription	Right Ventricle	heart
19	chr5:179477400-179483800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:179477400-179494000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr5:179477400-179495000	Weak transcription	Gastric	stomach
22	chr5:179477600-179483600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:179477600-179486200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr5:179478000-179482400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:179478000-179496800	Weak transcription	Right Atrium	heart
26	chr5:179478400-179484200	Enhancers	Brain Hippocampus Middle	brain
27	chr5:179478800-179493800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr5:179479000-179482400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr5:179479400-179482000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:179479600-179483400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:179479800-179496800	Weak transcription	Psoas Muscle	Psoas
32	chr5:179480000-179482600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:179480000-179483200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:179480000-179484000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr5:179480000-179485400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:179480200-179482200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:179480200-179486000	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr5:179480200-179486800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:179480400-179482400	Weak transcription	Left Ventricle	heart
40	chr5:179480400-179488200	Weak transcription	Fetal Brain Male	brain
41	chr5:179480600-179494000	Weak transcription	Fetal Lung	lung
42	chr5:179480600-179496400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:179480800-179481800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:179480800-179482600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:179481000-179482000	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr5:179481200-179482000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:179481200-179482200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr5:179481200-179482600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:179481200-179482600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr5:179481200-179496600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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