Variant report

Variant	rs491700
Chromosome Location	chr6:167171838-167171839
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	SIN3A	chr6:167171193-167171842	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr6:167171667-167171890	K562	blood:	n/a	chr6:167171784-167171793

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1202673	0.83[CEU][hapmap]
rs13198549	0.96[CEU][hapmap];0.80[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1964808	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs505982	0.84[MKK][hapmap]
rs656938	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6912712	0.85[EUR][1000 genomes]
rs9348179	0.93[CHD][hapmap];0.80[ASN][1000 genomes]
rs9355592	0.93[CHD][hapmap];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer 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
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	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
4	nsv432984	chr6:167018915-167181613	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv482478	chr6:167071366-167265821	Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs491700	DACT2	cis	cerebellum	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167168800-167180400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr6:167170400-167172000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr6:167170400-167174200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:167170400-167174200	Enhancers	Thymus	Thymus
5	chr6:167170600-167172000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:167170600-167172000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:167170600-167172000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr6:167170600-167172200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr6:167170600-167172200	Bivalent Enhancer	Fetal Heart	heart
10	chr6:167170600-167172400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:167170600-167174600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr6:167170800-167172000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr6:167170800-167172000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr6:167170800-167172000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:167170800-167172000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:167170800-167172000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:167170800-167172000	Enhancers	Lung	lung
18	chr6:167170800-167172000	Flanking Active TSS	NHEK	skin
19	chr6:167170800-167172200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr6:167170800-167172400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:167170800-167172400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:167170800-167172400	Enhancers	Primary hematopoietic stem cells	blood
23	chr6:167170800-167172400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:167170800-167172400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr6:167170800-167172600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr6:167170800-167172600	Bivalent Enhancer	Fetal Lung	lung
27	chr6:167170800-167173600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:167171000-167172000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:167171000-167172000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:167171000-167172000	Enhancers	Brain Germinal Matrix	brain
31	chr6:167171000-167172200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:167171000-167172600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:167171200-167172000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:167171200-167172400	Bivalent Enhancer	Fetal Stomach	stomach
35	chr6:167171200-167176200	Weak transcription	Spleen	Spleen
36	chr6:167171400-167172000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr6:167171400-167172000	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr6:167171400-167172000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:167171400-167172000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr6:167171400-167172400	Enhancers	Brain Substantia Nigra	brain
41	chr6:167171400-167172600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
42	chr6:167171400-167174000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:167171400-167174400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr6:167171400-167174600	Enhancers	Fetal Thymus	thymus
45	chr6:167171600-167172000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:167171600-167172200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr6:167171600-167172400	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:167171600-167172400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:167171600-167172400	Enhancers	Fetal Brain Female	brain
50	chr6:167171600-167172600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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