Variant report

Variant	rs362833
Chromosome Location	chr6:146660843-146660844
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	chr6:146660697-146661062	HL-60	blood:	n/a	chr6:146660903-146660916 chr6:146660902-146660915
2	KAP1	chr6:146660828-146661339	U2OS	brain:	n/a	n/a
3	SPI1	chr6:146660809-146661015	K562	blood:	n/a	chr6:146660903-146660916 chr6:146660902-146660915
4	SPI1	chr6:146660749-146661125	HL-60	blood:	n/a	chr6:146660903-146660916 chr6:146660902-146660915
5	SMC3	chr6:146660822-146661290	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
RNA5SP222	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1009084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17075819	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17075876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2268659	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv604839	chr6:146305810-146828922	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1033913	chr6:146572989-147092365	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538466	chr6:146572989-147092365	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146657000-146661600	Enhancers	HUVEC	blood vessel
2	chr6:146658200-146661000	Enhancers	Psoas Muscle	Psoas
3	chr6:146659600-146661400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:146660000-146661200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:146660000-146661600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr6:146660600-146661000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr6:146660600-146661200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:146660600-146661200	Enhancers	Fetal Muscle Leg	muscle
9	chr6:146660800-146661000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:146660800-146661000	Active TSS	A549	lung
11	chr6:146660800-146661200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:146660800-146661200	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:146660800-146661200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:146660800-146661200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:146660800-146661200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:146660800-146661200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr6:146660800-146661200	Enhancers	Colon Smooth Muscle	Colon
18	chr6:146660800-146661200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:146660800-146661200	Enhancers	Stomach Smooth Muscle	stomach
20	chr6:146660800-146661400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:146660800-146661400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:146660800-146661600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr6:146660800-146661600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:146660800-146661600	Enhancers	Brain Hippocampus Middle	brain
25	chr6:146660800-146661600	Flanking Active TSS	Hela-S3	cervix
26	chr6:146660800-146661600	Enhancers	NH-A	brain

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