Variant report

Variant	rs73278808
Chromosome Location	chr5:154243217-154243218
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:154243211-154243468	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:154133677..154137766-chr5:154241109..154245112,3	MCF-7	breast:
2	chr5:154133297..154136290-chr5:154243149..154244974,2	MCF-7	breast:
3	chr5:154240647..154243521-chr5:154292681..154295398,2	K562	blood:
4	chr5:154241344..154243464-chr5:154248518..154250233,2	K562	blood:
5	chr5:154235557..154238581-chr5:154240943..154243262,3	K562	blood:

No data

Variant related genes	Relation type
FAXDC2	TF binding region
ENSG00000155508	Chromatin interaction
ENSG00000155506	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs57706249	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61122839	1.00[AMR][1000 genomes]
rs73276785	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830521	chr5:154147567-154244266	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:154239200-154244400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:154239400-154249800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:154239600-154263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:154239800-154244400	Weak transcription	Ovary	ovary
5	chr5:154240000-154244400	Weak transcription	Esophagus	oesophagus
6	chr5:154240200-154244000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:154240200-154244400	Weak transcription	Right Ventricle	heart
8	chr5:154240200-154244600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:154240200-154244800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr5:154240200-154248000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:154240200-154248000	Weak transcription	Gastric	stomach
12	chr5:154240200-154249800	Weak transcription	Pancreas	Pancrea
13	chr5:154240400-154243800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:154240400-154244200	Weak transcription	Fetal Brain Female	brain
15	chr5:154240400-154244600	Weak transcription	HMEC	breast
16	chr5:154240400-154245000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:154240400-154250200	Weak transcription	Fetal Brain Male	brain
18	chr5:154240600-154244200	Weak transcription	NHEK	skin
19	chr5:154240600-154244400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:154240600-154244800	Weak transcription	HSMMtube	muscle
21	chr5:154240600-154245000	Weak transcription	Brain Anterior Caudate	brain
22	chr5:154240600-154245000	Weak transcription	Brain Substantia Nigra	brain
23	chr5:154240600-154245200	Weak transcription	Aorta	Aorta
24	chr5:154240600-154245600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:154240600-154251000	Weak transcription	Fetal Heart	heart
26	chr5:154240600-154264800	Weak transcription	Stomach Mucosa	stomach
27	chr5:154240800-154248000	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:154240800-154249800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr5:154240800-154250200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr5:154240800-154256800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr5:154241000-154244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:154241000-154246000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:154241000-154255600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr5:154242000-154243600	Weak transcription	Lung	lung
35	chr5:154242000-154245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:154242000-154247400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:154242000-154248200	Weak transcription	Right Atrium	heart
38	chr5:154242000-154248600	Strong transcription	K562	blood
39	chr5:154242000-154256800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:154242000-154257600	Strong transcription	Fetal Thymus	thymus
41	chr5:154242200-154243400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr5:154242200-154243800	Genic enhancers	Dnd41	blood
43	chr5:154242200-154243800	Strong transcription	NHDF-Ad	bronchial
44	chr5:154242200-154247200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr5:154242200-154247400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr5:154242200-154248400	Weak transcription	Colonic Mucosa	Colon
47	chr5:154242200-154256800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:154242200-154256800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:154242400-154243400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:154242400-154243400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood

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