Variant report

Variant	rs4264913
Chromosome Location	chr5:179472728-179472729
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:179469293..179473403-chr5:179473812..179477504,5	MCF-7	breast:
2	chr5:179466042..179468757-chr5:179469985..179473584,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10051632	0.82[AFR][1000 genomes]
rs10051694	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10056316	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10056991	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10059400	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10066845	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10071652	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079029	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10464058	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11249663	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11249664	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249665	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11249666	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11739706	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13435998	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17681274	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34585953	0.80[EUR][1000 genomes]
rs3776946	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3776948	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4235505	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700852	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700854	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4700859	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57008562	0.89[AFR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57117216	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61356660	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62404970	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62404974	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62404976	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404977	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62404979	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62405015	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6601077	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6601078	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862105	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869349	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873317	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6873639	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884565	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7729516	0.90[EUR][1000 genomes]
rs7734329	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9329095	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[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:92 , 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	chr5:179451200-179477200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:179461800-179483600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:179462800-179474800	Weak transcription	Fetal Heart	heart
5	chr5:179462800-179477000	Weak transcription	Colonic Mucosa	Colon
6	chr5:179463600-179472800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:179463600-179473400	Weak transcription	HUVEC	blood vessel
8	chr5:179463600-179475600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:179463800-179477000	Weak transcription	Small Intestine	intestine
10	chr5:179463800-179479200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr5:179463800-179482200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr5:179464400-179473200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:179464400-179473400	Weak transcription	Spleen	Spleen
14	chr5:179464400-179476800	Weak transcription	HepG2	liver
15	chr5:179464400-179477200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr5:179464600-179473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:179464600-179473800	Weak transcription	Right Ventricle	heart
18	chr5:179464600-179474400	Weak transcription	Primary T cells from cord blood	blood
19	chr5:179464800-179473200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:179464800-179473800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr5:179464800-179483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:179465200-179472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:179465200-179473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr5:179465200-179474800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:179465200-179474800	Weak transcription	Psoas Muscle	Psoas
26	chr5:179465200-179475800	Weak transcription	HSMMtube	muscle
27	chr5:179465400-179472800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:179465400-179473200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:179465400-179473400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:179465400-179473400	Weak transcription	Primary B cells from cord blood	blood
31	chr5:179465400-179473600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:179465400-179474600	Weak transcription	Lung	lung
33	chr5:179465400-179477200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr5:179465400-179484200	Weak transcription	Aorta	Aorta
35	chr5:179465600-179474800	Weak transcription	Fetal Muscle Leg	muscle
36	chr5:179467400-179473000	Weak transcription	Brain Germinal Matrix	brain
37	chr5:179467400-179474600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr5:179467400-179474800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:179467400-179483200	Weak transcription	HSMM	muscle
40	chr5:179467600-179472800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:179467600-179473000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:179467600-179473600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr5:179467600-179473600	Weak transcription	Colon Smooth Muscle	Colon
44	chr5:179467600-179474800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:179467600-179474800	Weak transcription	Fetal Muscle Trunk	muscle
46	chr5:179467800-179473400	Weak transcription	Fetal Lung	lung
47	chr5:179467800-179474800	Weak transcription	Left Ventricle	heart
48	chr5:179467800-179474800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:179467800-179475800	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr5:179467800-179479000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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