Variant report

Variant	rs58614562
Chromosome Location	chr5:95098463-95098464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:95097267-95101364	K562	blood:	n/a	n/a
2	GATA3	chr5:95097478-95098566	SK-N-SH	brain:	n/a	chr5:95098191-95098200 chr5:95098191-95098201
3	POLR2A	chr5:95097734-95104276	K562	blood:	n/a	n/a
4	POLR2A	chr5:95097652-95099018	K562	blood:	n/a	n/a
5	POLR2A	chr5:95098328-95098766	K562	blood:	n/a	n/a
6	EP300	chr5:95097731-95098487	SK-N-SH_RA	brain:	n/a	n/a
7	CEBPB	chr5:95097996-95098645	IMR90	lung:	n/a	chr5:95098546-95098557 chr5:95098546-95098557 chr5:95098545-95098562 chr5:95098546-95098559
8	POLR2A	chr5:95098277-95099299	K562	blood:	n/a	n/a
9	POLR2A	chr5:95096918-95101378	MCF-7	breast:	n/a	n/a
10	PML	chr5:95098430-95098991	K562	blood:	n/a	n/a
11	MAFK	chr5:95098008-95098649	IMR90	lung:	n/a	n/a
12	GATA3	chr5:95097518-95098533	SK-N-SH	brain:	n/a	chr5:95098191-95098200 chr5:95098191-95098201
13	POLR2A	chr5:95097992-95098476	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94982314..94984480-chr5:95095107..95100003,5	K562	blood:
2	chr5:94991653..94997847-chr5:95095997..95100148,6	K562	blood:
3	chr5:95095191..95099544-chr5:95107750..95111089,4	K562	blood:
4	chr5:95074612..95076544-chr5:95096846..95098510,2	MCF-7	breast:
5	chr5:95093296..95095849-chr5:95096907..95098621,2	MCF-7	breast:
6	chr5:95097640..95101240-chr5:95102630..95105938,3	K562	blood:
7	chr5:95065395..95069091-chr5:95095694..95100687,6	MCF-7	breast:
8	chr5:94980678..94986370-chr5:95094414..95102356,12	K562	blood:
9	chr5:95095912..95099841-chr5:95100842..95102446,3	K562	blood:
10	chr5:95097577..95099971-chr5:95142843..95145150,2	K562	blood:

Variant related genes	Relation type
RHOBTB3	TF binding region
ENSG00000175449	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000251348	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57120385	0.82[AFR][1000 genomes]
rs57266987	1.00[AFR][1000 genomes]
rs9763677	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:95075200-95111800	Weak transcription	Psoas Muscle	Psoas
3	chr5:95075800-95098600	Weak transcription	Fetal Brain Female	brain
4	chr5:95080000-95099000	Strong transcription	K562	blood
5	chr5:95083200-95122000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr5:95086800-95110800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:95088400-95105400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:95088600-95104800	Weak transcription	Fetal Brain Male	brain
10	chr5:95092200-95104600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr5:95095000-95102400	Weak transcription	Left Ventricle	heart
12	chr5:95095000-95104400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:95095000-95109000	Weak transcription	Esophagus	oesophagus
14	chr5:95095000-95115000	Weak transcription	Gastric	stomach
15	chr5:95095200-95103400	Weak transcription	Brain Germinal Matrix	brain
16	chr5:95095600-95108800	Weak transcription	Right Atrium	heart
17	chr5:95096200-95110200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:95096400-95103200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr5:95096400-95104400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr5:95096400-95125400	Weak transcription	Small Intestine	intestine
21	chr5:95096600-95099000	Enhancers	Primary B cells from peripheral blood	blood
22	chr5:95096600-95099400	Weak transcription	Fetal Intestine Small	intestine
23	chr5:95096600-95104400	Weak transcription	Aorta	Aorta
24	chr5:95096600-95108800	Weak transcription	Right Ventricle	heart
25	chr5:95096600-95117000	Weak transcription	Brain Angular Gyrus	brain
26	chr5:95096600-95129800	Weak transcription	Colonic Mucosa	Colon
27	chr5:95096800-95098600	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr5:95096800-95098600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:95096800-95098800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:95096800-95098800	Weak transcription	Fetal Lung	lung
31	chr5:95096800-95099000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:95096800-95099000	Enhancers	Primary B cells from cord blood	blood
33	chr5:95096800-95099000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:95096800-95101000	Weak transcription	Brain Substantia Nigra	brain
35	chr5:95096800-95103200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:95096800-95104200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:95096800-95104600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr5:95096800-95115000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr5:95097000-95098600	Enhancers	HSMMtube	muscle
40	chr5:95097000-95098800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:95097000-95098800	Enhancers	NHDF-Ad	bronchial
42	chr5:95097000-95099800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:95097200-95098800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:95097200-95105200	Strong transcription	Fetal Stomach	stomach
45	chr5:95097200-95108800	Strong transcription	Fetal Muscle Leg	muscle
46	chr5:95097400-95098600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:95097400-95106600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:95097600-95098800	Genic enhancers	Adipose Nuclei	Adipose
49	chr5:95097600-95098800	Genic enhancers	HSMM	muscle
50	chr5:95097600-95099800	Genic enhancers	Placenta	Placenta

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