Variant report

Variant	rs13201941
Chromosome Location	chr6:167322444-167322445
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	chr6:167322172-167322748	HL-60	blood:	n/a	chr6:167322485-167322494 chr6:167322483-167322496 chr6:167322482-167322495
2	SPI1	chr6:167322325-167322624	GM12891	blood:	n/a	chr6:167322485-167322494 chr6:167322483-167322496 chr6:167322482-167322495
3	SPI1	chr6:167322271-167322755	HL-60	blood:	n/a	chr6:167322485-167322494 chr6:167322483-167322496 chr6:167322482-167322495
4	POLR2A	chr6:167322131-167322475	K562	blood:	n/a	n/a
5	SPI1	chr6:167322296-167322580	GM12891	blood:	n/a	chr6:167322485-167322494 chr6:167322483-167322496 chr6:167322482-167322495

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167316933..167319053-chr6:167320800..167322909,2	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region
ENSG00000231654	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11159	0.85[EUR][1000 genomes]
rs13201493	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13202098	0.87[EUR][1000 genomes]
rs13213544	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13220568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34101156	0.89[EUR][1000 genomes]
rs34116393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34159386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34431091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35147976	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35206089	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35614625	0.89[EUR][1000 genomes]
rs35615089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35731380	0.87[EUR][1000 genomes]
rs36032379	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58251236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59988493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60908348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6916542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71571463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71571464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71571465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs71571466	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7740833	0.87[EUR][1000 genomes]
rs7755545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9295378	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9295379	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9295380	0.83[EUR][1000 genomes]
rs9295382	0.89[EUR][1000 genomes]
rs9457239	0.89[EUR][1000 genomes]
rs9457243	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9457244	0.87[EUR][1000 genomes]
rs9457245	0.87[EUR][1000 genomes]
rs9459799	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9459800	0.87[EUR][1000 genomes]
rs9459802	0.87[EUR][1000 genomes]
rs9459803	0.87[EUR][1000 genomes]
rs9459804	0.89[EUR][1000 genomes]
rs9459806	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv482525	chr6:167151805-167324406	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
11	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167315800-167341600	Weak transcription	Pancreas	Pancrea
2	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:167318600-167323400	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr6:167318600-167342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:167318800-167324400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:167318800-167326800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:167319200-167327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:167320200-167322600	Enhancers	Brain Anterior Caudate	brain
9	chr6:167320200-167323000	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:167320400-167322600	Enhancers	Spleen	Spleen
11	chr6:167320400-167322800	Enhancers	Primary B cells from cord blood	blood
12	chr6:167320400-167326000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:167320400-167327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr6:167320600-167323000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:167320800-167322600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:167320800-167322600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr6:167320800-167322600	Enhancers	Placenta	Placenta
18	chr6:167321200-167322600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:167321200-167322600	Enhancers	Brain Hippocampus Middle	brain
20	chr6:167321200-167323000	Enhancers	Ovary	ovary
21	chr6:167321200-167326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:167321200-167327800	Weak transcription	Brain Substantia Nigra	brain
23	chr6:167321200-167340000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr6:167321400-167322600	Enhancers	GM12878-XiMat	blood
25	chr6:167321400-167326000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:167321600-167331000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr6:167321600-167340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr6:167321800-167322800	Weak transcription	Brain Angular Gyrus	brain
29	chr6:167321800-167324400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr6:167321800-167342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr6:167322000-167324000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr6:167322000-167324400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:167322000-167340200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr6:167322000-167340600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:167322000-167341600	Weak transcription	Gastric	stomach
36	chr6:167322200-167322800	Weak transcription	Fetal Thymus	thymus
37	chr6:167322200-167326000	Weak transcription	Brain Germinal Matrix	brain
38	chr6:167322200-167326200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:167322200-167330400	Weak transcription	HepG2	liver
40	chr6:167322400-167322600	Enhancers	Primary T cells from cord blood	blood
41	chr6:167322400-167340000	Weak transcription	Primary hematopoietic stem cells	blood

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