Variant report

Variant	rs12075
Chromosome Location	chr1:159175354-159175355
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	CTCF	chr1:159175220-159175370	A549	lung:	n/a	n/a
2	EBF1	chr1:159175022-159175361	GM12878	blood:	n/a	chr1:159175194-159175205 chr1:159175193-159175206
3	POLR2A	chr1:159173266-159177005	PBDE	blood:	n/a	n/a
4	EBF1	chr1:159175049-159175381	GM12878	blood:	n/a	chr1:159175194-159175205 chr1:159175193-159175206
5	CTCF	chr1:159175132-159175438	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr1:159174916-159175391	H1-hESC	embryonic stem cell:	n/a	chr1:159174947-159174956 chr1:159174941-159174960
7	EBF1	chr1:159175038-159175398	GM12878	blood:	n/a	chr1:159175194-159175205 chr1:159175193-159175206
8	RAD21	chr1:159174753-159175464	H1-hESC	embryonic stem cell:	n/a	chr1:159174947-159174956 chr1:159174941-159174960
9	CTCF	chr1:159175240-159175390	HCM	heart:	n/a	n/a
10	CTCF	chr1:159174839-159175379	H1-hESC	embryonic stem cell:	n/a	chr1:159174944-159174960 chr1:159174943-159174961 chr1:159174938-159174959

Variant related genes	Relation type
ENSG00000225670	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs863002	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs863006	0.96[ASN][1000 genomes]

Variant related diseases (count:5)

Disease	PMID	Source
Inflammatory biomarkers	22291609	GWAS catalog
Obesity-related traits	23251661	GWAS catalog
Educational attainment	25201988	GWAS catalog
Monocyte chemoattractant protein-1	23017229	GWAS catalog
White blood cell count	22037903	GWAS catalog

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs12075	LENEP	cis	parietal	SCAN
rs12075	MPZ	cis	parietal	SCAN
rs12075	NCSTN	cis	parietal	SCAN
rs12075	SYT11	cis	parietal	SCAN
rs12075	DARC	cis	cerebellum	SCAN
rs12075	NUP210L	cis	parietal	SCAN
rs12075	INSRR	cis	cerebellum	SCAN
rs12075	GPATCH4	cis	cerebellum	SCAN
rs12075	S100A4	cis	parietal	SCAN
rs12075	SLAMF7	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159158800-159177600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:159158800-159177800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:159158800-159188800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:159168000-159177600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:159168400-159177600	Weak transcription	Brain Angular Gyrus	brain
6	chr1:159170400-159177800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:159170800-159177600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:159171800-159176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:159172200-159175800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:159172600-159177200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:159173000-159176400	Enhancers	GM12878-XiMat	blood
12	chr1:159173400-159176200	Enhancers	Placenta	Placenta
13	chr1:159173600-159175800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:159174400-159175800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr1:159174600-159175600	Active TSS	Lung	lung
16	chr1:159174600-159176000	Active TSS	Spleen	Spleen
17	chr1:159174800-159175600	Enhancers	K562	blood
18	chr1:159174800-159175800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
19	chr1:159174800-159175800	Active TSS	Esophagus	oesophagus
20	chr1:159174800-159177200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
21	chr1:159175000-159175600	Bivalent/Poised TSS	Left Ventricle	heart
22	chr1:159175000-159175600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
23	chr1:159175000-159175800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
24	chr1:159175000-159176000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr1:159175000-159176600	Weak transcription	Fetal Brain Male	brain
26	chr1:159175000-159176800	Weak transcription	Fetal Brain Female	brain
27	chr1:159175200-159177800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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