Variant report

Variant	rs4758301
Chromosome Location	chr11:8190983-8190984
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	REST	chr11:8189302-8191047	H1-neurons	neurons:	n/a	chr11:8190625-8190638
2	POLR2A	chr11:8190048-8191050	GM12891	blood:	n/a	n/a
3	MXI1	chr11:8189243-8191706	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:8189825-8190986	H1-hESC	embryonic stem cell:	n/a	n/a
5	EP300	chr11:8190969-8190989	GM12878	blood:	n/a	n/a
6	SIN3A	chr11:8189913-8191271	H1-hESC	embryonic stem cell:	n/a	chr11:8189933-8189944

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TUB-1	chr11:8190963-8190987	NONHSAT017844

Variant related genes	Relation type
RIC3	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10769880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap]
rs10839983	0.92[TSI][hapmap]
rs11041759	0.92[TSI][hapmap]
rs11820921	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11825426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825474	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11826236	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12098876	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406093	0.82[TSI][hapmap]
rs1528128	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1528133	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.94[ASN][1000 genomes]
rs16935778	0.86[JPT][hapmap]
rs16935797	0.86[CHB][hapmap]
rs16936374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[TSI][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16936453	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16936464	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884897	0.88[ASN][1000 genomes]
rs3750954	0.92[TSI][hapmap]
rs3812761	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4758043	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.91[ASN][1000 genomes]
rs4758291	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4758292	0.88[ASN][1000 genomes]
rs4758293	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.88[ASN][1000 genomes]
rs4758296	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758297	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4758299	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55734038	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55800727	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55990541	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56069405	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs56151106	0.91[ASN][1000 genomes]
rs56296484	1.00[ASN][1000 genomes]
rs56359962	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs56391723	0.91[ASN][1000 genomes]
rs58468974	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59196234	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59304961	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59649611	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59779009	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60126747	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66638701	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66675297	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs66849637	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66904272	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67163850	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67311429	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67381251	1.00[ASN][1000 genomes]
rs67538440	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67616239	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67646462	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs67651384	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67738066	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67800627	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs67807225	0.94[ASN][1000 genomes]
rs67923068	1.00[ASN][1000 genomes]
rs68084728	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68154852	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116667	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[ASN][1000 genomes]
rs72849307	0.94[ASN][1000 genomes]
rs7480804	0.86[CHB][hapmap]
rs7939737	0.86[CHB][hapmap]
rs9783349	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829170	chr11:8068594-8216369	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv428249	chr11:8068594-8216369	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1048537	chr11:8137353-8196203	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv896981	chr11:8152080-8227964	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1054339	chr11:8153582-8263173	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8189400-8191000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:8189400-8191200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:8189400-8191400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:8189400-8191400	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:8189400-8191400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr11:8189600-8191000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:8189600-8191000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:8189600-8191000	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr11:8189600-8191000	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:8189600-8191200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:8189600-8191200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:8189600-8191200	Bivalent/Poised TSS	Fetal Brain Female	brain
13	chr11:8189600-8191400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr11:8189600-8191400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr11:8189600-8191400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:8189600-8191400	Active TSS	GM12878-XiMat	blood
17	chr11:8189800-8191000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr11:8189800-8191000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:8189800-8191000	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr11:8189800-8191000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
21	chr11:8189800-8191000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr11:8189800-8191000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
23	chr11:8189800-8191000	Active TSS	Brain Angular Gyrus	brain
24	chr11:8189800-8191000	Active TSS	Brain Hippocampus Middle	brain
25	chr11:8189800-8191000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr11:8189800-8191000	Active TSS	Brain Substantia Nigra	brain
27	chr11:8189800-8191000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:8189800-8191200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:8189800-8191200	Active TSS	Brain Cingulate Gyrus	brain
30	chr11:8189800-8191200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr11:8189800-8191200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
32	chr11:8189800-8191400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr11:8190000-8191000	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:8190000-8191000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:8190000-8191000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:8190000-8191000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
37	chr11:8190000-8191000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:8190000-8191000	Active TSS	Aorta	Aorta
39	chr11:8190000-8191000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr11:8190000-8191000	Active TSS	Gastric	stomach
41	chr11:8190000-8191200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr11:8190000-8191200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:8190000-8191200	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:8190000-8191400	Active TSS	Brain Anterior Caudate	brain
45	chr11:8190000-8191600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
46	chr11:8190200-8191000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:8190200-8191000	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr11:8190200-8191000	Flanking Active TSS	Lung	lung
49	chr11:8190200-8191000	Bivalent/Poised TSS	Thymus	Thymus
50	chr11:8190200-8191200	Bivalent/Poised TSS	Primary T cells fromperipheralblood	blood

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