Variant report

Variant	rs58397618
Chromosome Location	chr5:68483658-68483659
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:68483447-68483722	MCF10A-Er-Src	breast:	n/a	n/a
2	GATA1	chr5:68483044-68483717	PBDE	blood:	n/a	n/a
3	ZNF384	chr5:68483633-68483811	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68472735..68477267-chr5:68482092..68486946,8	MCF-7	breast:
2	chr5:68470678..68474023-chr5:68481300..68486180,5	MCF-7	breast:
3	chr5:68461460..68464018-chr5:68483608..68486992,6	MCF-7	breast:
4	chr5:68483355..68487362-chr5:68663859..68666403,7	K562	blood:
5	chr5:68483023..68488056-chr5:68511952..68517380,10	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC125-1	chr5:68483212-68485293	NONHSAT101896

No data

Variant related genes	Relation type
CENPH	TF binding region
ENSG00000152942	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000134056	Chromatin interaction
ENSG00000134057	Chromatin interaction
ENSG00000238334	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16898684	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60351121	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60412957	0.85[AFR][1000 genomes]
rs6878706	0.83[AMR][1000 genomes]
rs73772322	0.95[AFR][1000 genomes]
rs7703810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7705590	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8192264	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9763504	0.98[AFR][1000 genomes];1.00[AMR][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	nsv1018151	chr5:68377118-68667581	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription 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	nsv1035004	chr5:68405526-68670101	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3378789	chr5:68438275-68540725	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv3445512	chr5:68472245-68495835	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68463800-68484400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:68463800-68484400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:68463800-68484400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:68464000-68484400	Weak transcription	Pancreas	Pancrea
5	chr5:68464000-68484600	Weak transcription	Right Atrium	heart
6	chr5:68464200-68484600	Weak transcription	Left Ventricle	heart
7	chr5:68464400-68484400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr5:68464600-68484400	Weak transcription	HSMMtube	muscle
9	chr5:68466800-68484400	Weak transcription	Fetal Heart	heart
10	chr5:68468000-68484400	Weak transcription	Brain Hippocampus Middle	brain
11	chr5:68468000-68484400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr5:68468400-68484400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr5:68470600-68484200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:68471200-68484400	Weak transcription	Brain Anterior Caudate	brain
15	chr5:68471200-68484400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:68471200-68484600	Weak transcription	Primary T cells from cord blood	blood
17	chr5:68471200-68484600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:68471400-68484400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:68471400-68484400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr5:68471400-68484600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:68471400-68484600	Weak transcription	Liver	Liver
22	chr5:68471400-68484600	Weak transcription	Brain Substantia Nigra	brain
23	chr5:68471400-68484600	Weak transcription	Spleen	Spleen
24	chr5:68471600-68484200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:68471600-68484400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr5:68471600-68484400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr5:68471600-68484600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:68471600-68484800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr5:68472000-68484400	Weak transcription	Fetal Intestine Large	intestine
30	chr5:68472000-68484600	Weak transcription	Ovary	ovary
31	chr5:68472200-68484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:68472200-68484400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:68472200-68484400	Weak transcription	NHLF	lung
34	chr5:68472200-68484600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:68472400-68484400	Weak transcription	Fetal Intestine Small	intestine
36	chr5:68472400-68484600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr5:68472800-68484400	Weak transcription	Fetal Stomach	stomach
38	chr5:68473400-68484200	Weak transcription	Placenta	Placenta
39	chr5:68473400-68484400	Weak transcription	GM12878-XiMat	blood
40	chr5:68473400-68484600	Weak transcription	Thymus	Thymus
41	chr5:68473600-68484400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr5:68473600-68484400	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:68473600-68484400	Weak transcription	HUVEC	blood vessel
44	chr5:68473600-68484600	Weak transcription	Primary B cells from cord blood	blood
45	chr5:68473800-68484400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:68473800-68484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:68473800-68484400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:68473800-68484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:68473800-68484400	Weak transcription	Duodenum Mucosa	Duodenum
50	chr5:68473800-68484600	Weak transcription	Primary hematopoietic stem cells	blood

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