Variant report

Variant	rs575734386
Chromosome Location	chr8:130497330-130497331
allele	C/T
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	SPI1	chr8:130494538-130497621	HL-60	blood:	n/a	chr8:130497295-130497308
2	ELF1	chr8:130497081-130497442	K562	blood:	n/a	n/a
3	MAX	chr8:130497172-130497448	K562	blood:	n/a	n/a
4	BHLHE40	chr8:130497277-130497416	K562	blood:	n/a	n/a
5	POLR2A	chr8:130495968-130497490	K562	blood:	n/a	n/a
6	SPI1	chr8:130497186-130497347	K562	blood:	n/a	chr8:130497295-130497308
7	POLR2A	chr8:130496865-130497430	K562	blood:	n/a	n/a

Variant related genes	Relation type
MIR3686	TF binding region

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015611	chr8:130449321-130502086	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	esv3411472	chr8:130496920-130498968	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
3	esv3394518	chr8:130497320-130498518	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130490200-130503400	Weak transcription	Dnd41	blood
2	chr8:130495600-130497600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:130495600-130499600	Genic enhancers	K562	blood
4	chr8:130496600-130497400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:130496800-130497400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:130496800-130497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:130496800-130497400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr8:130496800-130497600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr8:130496800-130497600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:130496800-130497600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:130497000-130497400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:130497000-130497400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:130497000-130497400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:130497000-130497400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr8:130497000-130497600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:130497200-130497400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:130497200-130497400	Enhancers	H9 Cell Line	embryonic stem cell
18	chr8:130497200-130497400	Enhancers	Colon Smooth Muscle	Colon
19	chr8:130497200-130497400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:130497200-130497600	Enhancers	Fetal Muscle Leg	muscle
21	chr8:130497200-130498400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:130497200-130504200	Weak transcription	Thymus	Thymus

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