Variant report

Variant	rs10792106
Chromosome Location	chr11:57339361-57339362
allele	A/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	chr11:57339100-57339694	HL-60	blood:	n/a	chr11:57339259-57339266 chr11:57339251-57339264
2	MYC	chr11:57339173-57339467	NB4	blood:	n/a	chr11:57339255-57339265
3	MAX	chr11:57339111-57339466	NB4	blood:	n/a	chr11:57339255-57339265

Variant related genes	Relation type
UBE2L6	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10792101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10792104	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10792107	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896629	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1115172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap]
rs11229057	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2508443	0.82[CHB][hapmap]
rs28362945	0.80[ASN][1000 genomes]
rs3891975	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4938869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4938871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4938873	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939149	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4939151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4939152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939153	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61886733	0.92[ASN][1000 genomes]
rs61886736	0.92[ASN][1000 genomes]
rs61887019	0.92[ASN][1000 genomes]
rs7101425	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7112126	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7123582	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128015	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131076	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940223	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950126	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv1051032	chr11:57290124-57363064	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv541049	chr11:57290124-57363064	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1052073	chr11:57297499-57362802	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv541050	chr11:57297499-57362802	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	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
9	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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs10792106	CLP1	cis	cerebellum	SCAN
rs10792106	TIMM10	cis	lung	GTEx
rs10792106	SMTNL1	cis	Adipose Subcutaneous	GTEx
rs10792106	SERPING1	cis	cerebellum	SCAN
rs10792106	TIMM10	cis	parietal	SCAN
rs10792106	TIMM10	Cis_1M	lymphoblastoid	RTeQTL
rs10792106	TIMM10	cis	multi-tissue	Pritchard
rs10792106	OR5J2	cis	parietal	SCAN
rs10792106	SMTNL1	cis	lymphoblastoid	seeQTL
rs10792106	SMTNL1	cis	Artery Tibial	GTEx

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57336200-57340000	Weak transcription	Spleen	Spleen
2	chr11:57336200-57341200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:57336400-57341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:57337000-57341000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:57337200-57341200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:57337200-57341400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:57337200-57341400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:57337200-57341400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:57337200-57341400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:57337400-57340800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:57337400-57341000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:57337400-57341200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:57337400-57341400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:57338000-57340400	Enhancers	Dnd41	blood
15	chr11:57338000-57340600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:57338200-57339600	Enhancers	Fetal Thymus	thymus
17	chr11:57338200-57340000	Enhancers	Primary hematopoietic stem cells	blood
18	chr11:57338400-57339600	Enhancers	Primary T cells from cord blood	blood
19	chr11:57338400-57340000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr11:57338600-57340000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:57338600-57340600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:57338800-57339400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr11:57338800-57339600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr11:57339000-57339600	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr11:57339200-57339600	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:57339200-57339600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr11:57339200-57339600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:57339200-57339600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr11:57339200-57339800	Enhancers	Thymus	Thymus

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