Variant report

Variant	rs1783983
Chromosome Location	chr11:57420780-57420781
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	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
2	SPI1	chr11:57420765-57420934	K562	blood:	n/a	n/a
3	POLR2A	chr11:57420204-57420990	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:57420021-57420963	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:57420745-57421004	H1-hESC	embryonic stem cell:	n/a	n/a
7	IRF1	chr11:57420139-57420852	K562	blood:	n/a	chr11:57420294-57420307 chr11:57420294-57420307
8	REST	chr11:57420396-57420982	HL-60	blood:	n/a	chr11:57420478-57420487
9	SPI1	chr11:57420616-57421092	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57415751..57417478-chr11:57419075..57422993,4	K562	blood:
2	chr11:57419081..57422303-chr11:57422733..57426519,4	K562	blood:

Variant related genes	Relation type
CLP1	TF binding region
YPEL4	TF binding region
ENSG00000166793	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000254602	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs10792110	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs10896644	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs10896649	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs11229109	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs11570176	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs11570181	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs1613592	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1624389	0.81[EUR][1000 genomes]
rs1631684	0.96[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1647394	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1647403	0.88[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17455422	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs1783818	0.85[CEU][hapmap]
rs1783826	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs1783827	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1783828	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1783829	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1783978	0.88[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs1783979	0.89[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs1783980	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1783981	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1783984	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1783985	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1785498	0.89[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs1798172	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1798173	0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1798177	0.84[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2156638	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs2956981	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs3017889	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs36036499	0.89[CEU][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs4611222	0.81[CEU][hapmap];1.00[JPT][hapmap]
rs627145	0.81[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs653889	0.84[CEU][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs665058	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7117020	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap]
rs7120868	0.84[CEU][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs7947357	0.84[CEU][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs929934	0.84[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1783983	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs1783983	OR4C11	cis	cerebellum	SCAN
rs1783983	YPEL4	cis	multi-tissue	Pritchard
rs1783983	YPEL4	cis	Liver	GTEx
rs1783983	TNKS1BP1	cis	parietal	SCAN
rs1783983	MS4A7	cis	parietal	SCAN
rs1783983	YPEL4	cis	lung	GTEx
rs1783983	SLC43A3	cis	cerebellum	SCAN
rs1783983	TIMM10	cis	parietal	SCAN

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57417800-57424600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:57417800-57424600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:57418000-57424200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:57418000-57424200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr11:57418000-57424200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:57418000-57424200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:57418000-57424400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:57418000-57424600	Weak transcription	Right Atrium	heart
9	chr11:57418000-57424600	Weak transcription	HSMM	muscle
10	chr11:57418200-57424200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:57418200-57424200	Weak transcription	Brain Hippocampus Middle	brain
12	chr11:57418200-57424400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:57418400-57424600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:57418600-57424200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:57418600-57424600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:57418800-57424600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:57419600-57422600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:57419800-57421600	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:57420000-57420800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr11:57420000-57420800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr11:57420000-57420800	Enhancers	Fetal Thymus	thymus
22	chr11:57420000-57421200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:57420200-57420800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:57420200-57420800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr11:57420200-57420800	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr11:57420200-57420800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:57420200-57420800	Active TSS	Ovary	ovary
28	chr11:57420200-57421000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:57420200-57421400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:57420200-57421600	Weak transcription	Placenta	Placenta
31	chr11:57420200-57424200	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr11:57420400-57420800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:57420400-57420800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr11:57420400-57420800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr11:57420400-57420800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr11:57420400-57420800	Enhancers	Adipose Nuclei	Adipose
37	chr11:57420400-57420800	Flanking Active TSS	K562	blood
38	chr11:57420400-57420800	Flanking Active TSS	Osteobl	bone
39	chr11:57420400-57421000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr11:57420400-57421400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr11:57420400-57421400	Enhancers	H1 Cell Line	embryonic stem cell
42	chr11:57420400-57421400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr11:57420400-57421400	Enhancers	Fetal Lung	lung
44	chr11:57420400-57424400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:57420400-57424400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:57420400-57424400	Weak transcription	Thymus	Thymus
47	chr11:57420600-57420800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
48	chr11:57420600-57420800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:57420600-57420800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:57420600-57420800	Enhancers	Muscle Satellite Cultured Cells	--

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