Variant report

Variant	rs59560401
Chromosome Location	chr5:118486226-118486227
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118482237..118484513-chr5:118485440..118487659,2	MCF-7	breast:
2	chr5:118478650..118480412-chr5:118485694..118488246,2	K562	blood:
3	chr5:118482277..118484558-chr5:118486167..118488400,3	K562	blood:
4	chr5:118478650..118480412-chr5:118485694..118488311,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10067861	1.00[EUR][1000 genomes]
rs10073635	1.00[EUR][1000 genomes]
rs10478420	1.00[EUR][1000 genomes]
rs1394628	0.83[AFR][1000 genomes]
rs2197797	1.00[EUR][1000 genomes]
rs3992620	0.83[AFR][1000 genomes]
rs56777416	1.00[EUR][1000 genomes]
rs58506278	1.00[EUR][1000 genomes]
rs60943459	1.00[EUR][1000 genomes]
rs6881087	1.00[EUR][1000 genomes]
rs73235250	1.00[EUR][1000 genomes]
rs73235258	1.00[EUR][1000 genomes]
rs73240756	1.00[EUR][1000 genomes]
rs73240769	1.00[EUR][1000 genomes]
rs73240789	1.00[EUR][1000 genomes]
rs73240798	1.00[EUR][1000 genomes]
rs73240800	1.00[EUR][1000 genomes]
rs73242924	1.00[EUR][1000 genomes]
rs73242936	1.00[EUR][1000 genomes]
rs73242938	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73242944	1.00[EUR][1000 genomes]
rs73242969	1.00[EUR][1000 genomes]
rs73242972	1.00[EUR][1000 genomes]
rs73242991	1.00[EUR][1000 genomes]
rs73242996	0.83[AFR][1000 genomes]
rs73244806	1.00[EUR][1000 genomes]
rs73244821	1.00[EUR][1000 genomes]
rs73247063	1.00[EUR][1000 genomes]
rs73791001	1.00[EUR][1000 genomes]
rs7712826	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882774	chr5:118325429-118553470	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462426	chr5:118465249-118621672	Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv599564	chr5:118465249-118621672	ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016595	chr5:118468658-118621672	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118412200-118522800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr5:118450400-118496800	Weak transcription	Stomach Mucosa	stomach
3	chr5:118451200-118533400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:118453800-118522800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:118470000-118503200	Weak transcription	NH-A	brain
6	chr5:118472600-118487200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:118472800-118504000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:118472800-118505000	Weak transcription	HepG2	liver
9	chr5:118473000-118497000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:118473400-118489200	Weak transcription	K562	blood
11	chr5:118473400-118496800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:118473800-118505000	Weak transcription	A549	lung
13	chr5:118478800-118491400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:118479000-118526000	Weak transcription	Fetal Brain Male	brain
15	chr5:118480000-118493000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:118480200-118490600	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr5:118480600-118489800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:118481400-118486800	Strong transcription	Liver	Liver
19	chr5:118481600-118492800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:118481800-118488800	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:118481800-118493200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr5:118482000-118486600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr5:118482000-118491400	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr5:118482000-118492400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:118482200-118486400	Strong transcription	GM12878-XiMat	blood
26	chr5:118482200-118491600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:118482400-118486400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:118482400-118486600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr5:118482400-118486600	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr5:118482400-118486800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:118482400-118486800	Strong transcription	Fetal Thymus	thymus
32	chr5:118482400-118487000	Strong transcription	Primary B cells from cord blood	blood
33	chr5:118482400-118489000	Strong transcription	Placenta	Placenta
34	chr5:118482400-118490200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:118482400-118490600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:118482400-118491600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:118482400-118491600	Strong transcription	Fetal Intestine Large	intestine
38	chr5:118482400-118492000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr5:118482600-118486400	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:118482600-118486400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:118482600-118486400	Strong transcription	Duodenum Mucosa	Duodenum
42	chr5:118482600-118486600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:118482600-118486600	Strong transcription	Brain Hippocampus Middle	brain
44	chr5:118482600-118486800	Strong transcription	Adipose Nuclei	Adipose
45	chr5:118482600-118490800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr5:118482600-118491600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:118482600-118492000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:118482800-118486400	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr5:118483000-118486400	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:118483000-118486400	Strong transcription	Thymus	Thymus

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