Variant report

Variant	rs59869508
Chromosome Location	chr5:128445017-128445018
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	chr5:128438691..128440626-chr5:128444757..128447692,2	K562	blood:
2	chr5:128429647..128431641-chr5:128444581..128446918,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000066583	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs2059124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3734161	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3798113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3798118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59805230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61110228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235859	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235863	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73235873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830485	chr5:128298622-128480492	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv882842	chr5:128301971-128552706	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv599701	chr5:128328165-128773052	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	nsv882847	chr5:128368505-128665719	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
5	nsv882848	chr5:128378225-128516629	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:128431200-128447800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:128431400-128450600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:128431400-128457400	Weak transcription	Lung	lung
4	chr5:128431600-128446000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:128431600-128446400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:128431600-128450400	Weak transcription	Placenta	Placenta
7	chr5:128431600-128450400	Weak transcription	HSMM	muscle
8	chr5:128431600-128454200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr5:128431800-128446400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr5:128432200-128450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:128432200-128454600	Weak transcription	Aorta	Aorta
12	chr5:128432400-128446000	Weak transcription	HMEC	breast
13	chr5:128432400-128450400	Weak transcription	Brain Angular Gyrus	brain
14	chr5:128433400-128453800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:128434000-128448800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:128434000-128455600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr5:128434000-128458400	Weak transcription	Esophagus	oesophagus
18	chr5:128434200-128446200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:128434200-128446400	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:128434400-128447000	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:128434400-128454200	Weak transcription	Colonic Mucosa	Colon
22	chr5:128434400-128461800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr5:128434600-128445600	Weak transcription	Small Intestine	intestine
24	chr5:128434800-128446400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:128434800-128461600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr5:128435000-128446400	Weak transcription	Brain Substantia Nigra	brain
27	chr5:128435000-128446800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr5:128435200-128445400	Weak transcription	Right Ventricle	heart
29	chr5:128435200-128450400	Weak transcription	HUVEC	blood vessel
30	chr5:128435200-128452800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr5:128435200-128453000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:128435200-128462200	Weak transcription	Pancreas	Pancrea
33	chr5:128435600-128453200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:128435800-128445800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:128436000-128447000	Weak transcription	GM12878-XiMat	blood
36	chr5:128439600-128456200	Weak transcription	Spleen	Spleen
37	chr5:128440000-128452800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr5:128440600-128452800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr5:128441600-128447000	Strong transcription	Primary B cells from cord blood	blood
40	chr5:128441800-128449000	Strong transcription	Fetal Intestine Large	intestine
41	chr5:128442000-128445400	Strong transcription	Fetal Thymus	thymus
42	chr5:128442000-128446600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:128442200-128446600	Strong transcription	Fetal Muscle Leg	muscle
44	chr5:128442200-128449000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:128442200-128451000	Strong transcription	Primary T cells from cord blood	blood
46	chr5:128442400-128445200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr5:128442800-128445800	Weak transcription	NHEK	skin
48	chr5:128442800-128450400	Weak transcription	Hela-S3	cervix
49	chr5:128442800-128451800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:128443000-128445200	Weak transcription	A549	lung

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