Variant report

Variant	rs60014260
Chromosome Location	chr5:7909528-7909529
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	chr5:7908992..7910576-chr5:7919203..7920908,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1078381	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11951657	1.00[ASN][1000 genomes]
rs13163363	0.93[ASN][1000 genomes]
rs13183229	0.93[ASN][1000 genomes]
rs1532268	0.88[ASN][1000 genomes]
rs17245337	1.00[ASN][1000 genomes]
rs1802059	0.93[ASN][1000 genomes]
rs2170502	1.00[ASN][1000 genomes]
rs2388771	0.83[ASN][1000 genomes]
rs2892595	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35400615	0.93[ASN][1000 genomes]
rs3815743	0.88[ASN][1000 genomes]
rs61161611	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62342557	0.93[ASN][1000 genomes]
rs66731631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67030816	0.90[ASN][1000 genomes]
rs67704418	0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs716537	0.93[ASN][1000 genomes]
rs7703296	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7704200	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715062	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916892	chr5:7634377-8158890	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv949492	chr5:7682909-7953909	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv533983	chr5:7701457-8275379	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv597005	chr5:7860404-8093077	Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv427707	chr5:7866234-7966019	Strong transcription Active TSS Genic enhancers Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv508345	chr5:7890892-7933471	Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7878600-7911800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:7895400-7909600	Weak transcription	Fetal Heart	heart
3	chr5:7899600-7910000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:7899600-7912000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr5:7900000-7909600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:7900000-7914600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:7902400-7910200	Weak transcription	Fetal Brain Male	brain
8	chr5:7902400-7910800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:7902400-7911200	Weak transcription	Fetal Kidney	kidney
10	chr5:7902800-7911200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:7903400-7911000	Weak transcription	Fetal Thymus	thymus
12	chr5:7903600-7916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:7903800-7913600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:7904000-7911400	Weak transcription	Small Intestine	intestine
15	chr5:7904200-7909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:7904200-7910800	Weak transcription	Thymus	Thymus
17	chr5:7904200-7912000	Weak transcription	Pancreas	Pancrea
18	chr5:7904200-7912200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:7904400-7909800	Weak transcription	Hela-S3	cervix
20	chr5:7904400-7911000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:7904400-7912400	Weak transcription	HMEC	breast
22	chr5:7904400-7915800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:7904600-7909600	Strong transcription	A549	lung
24	chr5:7904800-7915400	Weak transcription	Osteobl	bone
25	chr5:7905000-7909600	Strong transcription	HSMM	muscle
26	chr5:7905000-7912000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr5:7906200-7916400	Weak transcription	NHEK	skin
28	chr5:7907000-7910000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
29	chr5:7907000-7910000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
30	chr5:7907000-7911400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr5:7907200-7909600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:7907200-7909600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr5:7907200-7909800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:7907200-7909800	ZNF genes & repeats	Dnd41	blood
35	chr5:7907200-7910000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:7907200-7910200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:7907600-7909800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:7907800-7909600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
39	chr5:7907800-7909600	ZNF genes & repeats	Primary B cells from cord blood	blood
40	chr5:7907800-7909600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
41	chr5:7907800-7909600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
42	chr5:7907800-7909800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr5:7907800-7909800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
44	chr5:7907800-7910200	ZNF genes & repeats	Brain Anterior Caudate	brain
45	chr5:7908000-7909600	ZNF genes & repeats	Liver	Liver
46	chr5:7908000-7909800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:7908000-7909800	ZNF genes & repeats	Fetal Muscle Leg	muscle
48	chr5:7908000-7910000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
49	chr5:7908200-7909600	ZNF genes & repeats	Fetal Brain Female	brain
50	chr5:7908200-7909600	ZNF genes & repeats	Fetal Lung	lung

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