Variant report

Variant	rs908693
Chromosome Location	chr11:66240517-66240518
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	chr11:66240235-66241923	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr11:66240501-66240523	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66240024..66242825-chr11:66609200..66612137,2	MCF-7	breast:
2	chr11:66240065..66243058-chr11:66275897..66279906,3	MCF-7	breast:
3	chr11:65189570..65191757-chr11:66239067..66241497,2	MCF-7	breast:

Variant related genes	Relation type
PELI3	TF binding region
ENSG00000256349	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs11227537	1.00[AMR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs4930388	1.00[AMR][1000 genomes]
rs495264	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs548344	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs580850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs670900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs948359	1.00[EUR][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	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS 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	37 gene(s)	inside rSNPs	diseases
8	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66235200-66245000	Weak transcription	HSMM	muscle
2	chr11:66235200-66246200	Weak transcription	Fetal Kidney	kidney
3	chr11:66235400-66246400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr11:66235400-66246600	Weak transcription	Fetal Heart	heart
5	chr11:66235400-66246600	Weak transcription	Psoas Muscle	Psoas
6	chr11:66235400-66246600	Weak transcription	HSMMtube	muscle
7	chr11:66235600-66241400	Weak transcription	HMEC	breast
8	chr11:66235600-66244200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:66235600-66246400	Weak transcription	A549	lung
10	chr11:66235600-66246400	Weak transcription	Hela-S3	cervix
11	chr11:66235800-66240600	Weak transcription	Right Ventricle	heart
12	chr11:66235800-66245000	Weak transcription	Thymus	Thymus
13	chr11:66235800-66246200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:66235800-66246200	Weak transcription	Fetal Thymus	thymus
15	chr11:66235800-66246400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:66235800-66246400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr11:66235800-66246600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:66235800-66246600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:66235800-66246600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:66235800-66246600	Weak transcription	Stomach Mucosa	stomach
21	chr11:66236000-66241400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:66236000-66243800	Strong transcription	Brain Hippocampus Middle	brain
23	chr11:66236000-66244000	Strong transcription	Fetal Muscle Leg	muscle
24	chr11:66236000-66246200	Weak transcription	HepG2	liver
25	chr11:66236000-66246400	Weak transcription	Fetal Brain Male	brain
26	chr11:66236000-66246600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:66236000-66246600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:66236000-66246600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:66236000-66246600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:66236200-66240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:66236200-66240800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr11:66236200-66245600	Strong transcription	Fetal Stomach	stomach
33	chr11:66236200-66246200	Weak transcription	Dnd41	blood
34	chr11:66236200-66246400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr11:66236400-66243200	Strong transcription	Brain Anterior Caudate	brain
36	chr11:66236400-66243600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:66236400-66244600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:66236400-66245800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:66236600-66245600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr11:66237000-66244200	Strong transcription	Placenta Amnion	Placenta Amnion
41	chr11:66237000-66244400	Strong transcription	Ovary	ovary
42	chr11:66237200-66244000	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:66237600-66244400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:66237600-66245800	Strong transcription	Fetal Intestine Small	intestine
45	chr11:66237600-66246400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:66237800-66243000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:66237800-66243200	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr11:66237800-66244200	Strong transcription	Brain Cingulate Gyrus	brain
49	chr11:66237800-66244400	Strong transcription	Adipose Nuclei	Adipose
50	chr11:66237800-66244600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain

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