Variant report

Variant	rs17811120
Chromosome Location	chr11:85477283-85477284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85467154..85470617-chr11:85475521..85479674,4	MCF-7	breast:
2	chr11:85475609..85477419-chr11:85479383..85481786,2	K562	blood:
3	chr11:85476838..85478489-chr11:85489449..85492312,2	MCF-7	breast:
4	chr11:85470232..85472552-chr11:85473605..85477376,4	K562	blood:

Variant related genes	Relation type
ENSG00000137501	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10501597	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10898409	0.86[ASN][1000 genomes]
rs10898422	0.86[GIH][hapmap]
rs11234386	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234387	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234388	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234389	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs11234390	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234391	1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234392	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234395	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11234408	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11234409	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234413	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11234415	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234416	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11234418	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234427	0.93[GIH][hapmap]
rs11234450	0.93[GIH][hapmap]
rs11234460	0.93[GIH][hapmap]
rs11234461	0.93[GIH][hapmap]
rs11607789	0.85[CHB][hapmap];0.82[CHD][hapmap]
rs12286030	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12286043	0.84[ASN][1000 genomes]
rs12286206	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12360932	0.93[GIH][hapmap]
rs12362209	0.93[GIH][hapmap]
rs12363624	0.93[GIH][hapmap]
rs12365370	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17148355	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17148514	0.85[CHB][hapmap]
rs17208525	1.00[CHB][hapmap]
rs17208602	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs17208616	1.00[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs17209127	1.00[CEU][hapmap];0.93[GIH][hapmap]
rs17810701	1.00[CHB][hapmap]
rs17810766	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs17810802	1.00[CHB][hapmap];0.94[CHD][hapmap]
rs17810855	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2044393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276018	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2304342	1.00[CHB][hapmap]
rs2304343	1.00[CEU][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs36035618	1.00[AFR][1000 genomes]
rs3891432	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs494119	1.00[CHB][hapmap];0.87[CHD][hapmap]
rs616309	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs645798	1.00[CHB][hapmap];0.94[CHD][hapmap];0.85[JPT][hapmap]
rs678376	0.85[CHB][hapmap];0.94[CHD][hapmap]
rs73518846	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv832222	chr11:85405712-85603981	Enhancers Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv898050	chr11:85406915-85499290	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1054027	chr11:85429074-85477283	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv555639	chr11:85436352-85495269	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1047147	chr11:85459235-85594800	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv541114	chr11:85459235-85594800	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv2762927	chr11:85468051-85559618	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv1052737	chr11:85477084-85554914	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv541115	chr11:85477084-85554914	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17811120	SYTL2	cis	lymphoblastoid	seeQTL

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
2	chr11:85448000-85480600	Weak transcription	Fetal Stomach	stomach
3	chr11:85449200-85478400	Weak transcription	Right Ventricle	heart
4	chr11:85460600-85483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:85463200-85478800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:85467600-85477600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:85469400-85485400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr11:85469800-85477800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:85471200-85477400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:85471600-85477600	Weak transcription	NHLF	lung
11	chr11:85471800-85482600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:85471800-85483200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:85472000-85480600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:85472000-85481200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr11:85472000-85485400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr11:85472200-85477800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:85472200-85478800	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:85472600-85484600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:85473800-85477600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:85473800-85477600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:85473800-85477800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:85474000-85487400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:85474600-85477800	Enhancers	Fetal Kidney	kidney
24	chr11:85475200-85481000	Weak transcription	Primary T cells from cord blood	blood
25	chr11:85475600-85488200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:85475800-85478200	Weak transcription	Stomach Mucosa	stomach
27	chr11:85476000-85482400	Weak transcription	HSMM	muscle
28	chr11:85477000-85477600	Enhancers	NHDF-Ad	bronchial
29	chr11:85477000-85478200	Enhancers	Small Intestine	intestine
30	chr11:85477000-85479400	Enhancers	Duodenum Mucosa	Duodenum
31	chr11:85477200-85478400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:85477200-85478600	Enhancers	Fetal Intestine Small	intestine
33	chr11:85477200-85478600	Enhancers	HSMMtube	muscle

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