Variant report

Variant	rs6570941
Chromosome Location	chr6:149436820-149436821
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	chr6:149436794-149437193	GM12891	blood:	n/a	n/a
2	TEAD4	chr6:149436185-149436871	K562	blood:	n/a	n/a
3	SPI1	chr6:149436703-149437513	GM12878	blood:	n/a	n/a
4	GATA1	chr6:149436162-149436904	K562	blood:	n/a	chr6:149436578-149436599 chr6:149436583-149436592
5	ZNF384	chr6:149436206-149437195	K562	blood:	n/a	n/a
6	SPI1	chr6:149436579-149436848	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149430916..149432459-chr6:149435133..149437289,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000219487	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11155625	0.84[AMR][1000 genomes]
rs12191264	0.84[AMR][1000 genomes]
rs12191441	0.84[AMR][1000 genomes]
rs12196468	0.84[AMR][1000 genomes]
rs12196841	0.84[AMR][1000 genomes]
rs12197043	0.84[AMR][1000 genomes]
rs12210293	0.86[AMR][1000 genomes]
rs12210437	0.84[AMR][1000 genomes]
rs12210478	0.84[AMR][1000 genomes]
rs12216302	0.87[AMR][1000 genomes]
rs28641142	0.86[AMR][1000 genomes]
rs35030564	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35372633	0.84[AMR][1000 genomes]
rs35426452	0.84[AMR][1000 genomes]
rs3934770	0.84[AMR][1000 genomes]
rs4385337	0.84[AMR][1000 genomes]
rs4415179	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4495293	0.84[AMR][1000 genomes]
rs4897081	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897082	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897083	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4897084	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5013008	0.82[AMR][1000 genomes]
rs55794530	0.85[AMR][1000 genomes]
rs55855829	0.84[AMR][1000 genomes]
rs55991942	0.84[AMR][1000 genomes]
rs56260426	0.89[AMR][1000 genomes]
rs56883363	0.84[AMR][1000 genomes]
rs57596511	0.84[AMR][1000 genomes]
rs57937779	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61462811	0.84[AMR][1000 genomes]
rs62425896	0.83[AMR][1000 genomes]
rs6570942	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6570943	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7749723	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7749728	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7767040	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9377192	0.89[AMR][1000 genomes]
rs9386246	0.86[AMR][1000 genomes]
rs9390658	0.86[AMR][1000 genomes]
rs9688704	0.84[AMR][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	nsv1032319	chr6:149271433-149550525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538470	chr6:149271433-149550525	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1024776	chr6:149398652-149654593	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:149429200-149437200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr6:149430200-149437200	Weak transcription	Brain Substantia Nigra	brain
3	chr6:149430600-149437200	Weak transcription	Brain Hippocampus Middle	brain
4	chr6:149433200-149443400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr6:149433800-149444400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr6:149434000-149437000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr6:149434400-149437000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:149434600-149437000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr6:149435000-149439400	Weak transcription	Aorta	Aorta
10	chr6:149435400-149440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:149435600-149437000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:149436000-149437000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr6:149436200-149440000	Enhancers	K562	blood
14	chr6:149436400-149437600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr6:149436400-149437600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr6:149436400-149437800	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:149436400-149437800	Enhancers	Dnd41	blood
18	chr6:149436400-149442600	Enhancers	Primary hematopoietic stem cells	blood
19	chr6:149436600-149437000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:149436600-149437200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr6:149436600-149437400	Enhancers	Primary T cells from cord blood	blood
22	chr6:149436600-149437400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:149436600-149437600	Enhancers	Primary B cells from peripheral blood	blood
24	chr6:149436800-149437000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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