Variant report

Variant	rs58748938
Chromosome Location	chr5:96358060-96358061
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	chr5:96269321..96272126-chr5:96356775..96358540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113441	Chromatin interaction
ENSG00000247121	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12656253	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12657704	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2287902	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2303210	0.82[ASN][1000 genomes]
rs3797795	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3797797	0.88[ASN][1000 genomes]
rs3797798	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3797850	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3806940	0.80[ASN][1000 genomes]
rs55767008	0.88[ASN][1000 genomes]
rs55870170	0.88[ASN][1000 genomes]
rs60280354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862188	0.87[EUR][1000 genomes]
rs73139219	0.88[AFR][1000 genomes]
rs73141135	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728347	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv948703	chr5:96078309-96368839	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic 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 target site	32 gene(s)	inside rSNPs	diseases
4	nsv1028741	chr5:96082401-96372165	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv949058	chr5:96082433-96390619	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv598963	chr5:96084776-96363407	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96304800-96359600	Weak transcription	Hela-S3	cervix
2	chr5:96314000-96360200	Weak transcription	Fetal Brain Male	brain
3	chr5:96315400-96374800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:96315600-96358600	Weak transcription	Brain Substantia Nigra	brain
5	chr5:96316000-96360000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:96322400-96358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr5:96322400-96359600	Weak transcription	Gastric	stomach
8	chr5:96329800-96358800	Weak transcription	Brain Germinal Matrix	brain
9	chr5:96330000-96359800	Weak transcription	Aorta	Aorta
10	chr5:96330400-96359400	Weak transcription	Fetal Brain Female	brain
11	chr5:96333600-96374000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:96333800-96372800	Strong transcription	Placenta	Placenta
13	chr5:96335800-96359600	Weak transcription	Stomach Mucosa	stomach
14	chr5:96336600-96359400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr5:96336600-96359400	Weak transcription	Colonic Mucosa	Colon
16	chr5:96340600-96359800	Weak transcription	NHDF-Ad	bronchial
17	chr5:96340800-96359800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:96341000-96358800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:96342600-96374400	Weak transcription	HepG2	liver
20	chr5:96342800-96358600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:96343000-96359000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr5:96343200-96360000	Weak transcription	Brain Angular Gyrus	brain
23	chr5:96345600-96358800	Weak transcription	Small Intestine	intestine
24	chr5:96345800-96359600	Weak transcription	K562	blood
25	chr5:96346600-96358600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:96346600-96372600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr5:96347000-96373600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:96347200-96360400	Weak transcription	Lung	lung
29	chr5:96347200-96363400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:96348400-96372400	Strong transcription	Fetal Thymus	thymus
31	chr5:96348400-96374600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr5:96348600-96366000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:96350200-96359200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr5:96350800-96359400	Weak transcription	Psoas Muscle	Psoas
35	chr5:96350800-96359800	Weak transcription	Fetal Kidney	kidney
36	chr5:96350800-96360200	Weak transcription	HSMM	muscle
37	chr5:96351000-96359000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:96351000-96359400	Weak transcription	Fetal Lung	lung
39	chr5:96351400-96379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:96351800-96358600	Weak transcription	Osteobl	bone
41	chr5:96352200-96359600	Weak transcription	NHLF	lung
42	chr5:96352200-96359800	Weak transcription	Ovary	ovary
43	chr5:96352200-96372600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr5:96352800-96359200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr5:96354000-96358600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:96354200-96358400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:96354200-96359400	Weak transcription	Brain Anterior Caudate	brain
48	chr5:96354200-96360000	Weak transcription	HUVEC	blood vessel
49	chr5:96354200-96363800	Weak transcription	Pancreas	Pancrea
50	chr5:96354400-96359200	Weak transcription	Brain Hippocampus Middle	brain

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