Variant report

Variant	rs45553131
Chromosome Location	chr11:64087166-64087167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64086327-64087367	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:64084265-64087298	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:64086348-64087492	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:64084113-64087373	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:64086979-64087229	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:64086308-64087367	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:64081602-64087579	K562	blood:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63996703..63999686-chr11:64085696..64087413,2	K562	blood:
2	chr11:63951739..63953633-chr11:64084180..64087217,3	MCF-7	breast:
3	chr11:63969363..63977705-chr11:64080619..64088284,16	K562	blood:
4	chr11:63931987..63935535-chr11:64083979..64087332,4	K562	blood:
5	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
6	chr11:64086807..64088334-chr11:64108317..64110240,2	K562	blood:
7	chr11:64086371..64087924-chr11:64102764..64104388,2	MCF-7	breast:
8	chr11:64052935..64055141-chr11:64085438..64088024,2	MCF-7	breast:
9	chr11:64020572..64023323-chr11:64085691..64088535,2	K562	blood:
10	chr11:64006376..64009542-chr11:64085352..64088265,3	K562	blood:
11	chr11:64064984..64067480-chr11:64085885..64088331,2	K562	blood:
12	chr11:64033536..64040775-chr11:64080684..64088458,16	K562	blood:
13	chr11:63949414..63951067-chr11:64085720..64087436,2	MCF-7	breast:
14	chr11:64007566..64010545-chr11:64085469..64088420,4	MCF-7	breast:
15	chr11:64036345..64039258-chr11:64083551..64087371,5	MCF-7	breast:
16	chr11:64035844..64038435-chr11:64083306..64087822,4	MCF-7	breast:
17	chr11:64082853..64088243-chr11:64119014..64129028,17	MCF-7	breast:

No data

Variant related genes	Relation type
TRMT112	TF binding region
ENSG00000149761	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000110011	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs41294390	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55653360	1.00[ASN][1000 genomes]
rs60080768	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
11	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
14	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
16	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
17	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
18	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
19	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
20	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
21	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
22	esv3470741	chr11:64085235-64087828	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
23	esv3470752	chr11:64085235-64087828	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	inside rSNPs	diseases
24	esv18431	chr11:64085418-64087410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64084200-64087200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr11:64084400-64087200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr11:64084400-64087200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr11:64086200-64087200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:64086200-64087200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
6	chr11:64086200-64087200	Flanking Active TSS	Placenta	Placenta
7	chr11:64086200-64087400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:64086200-64090200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr11:64086400-64087200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64086400-64087200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr11:64086400-64087200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:64086400-64087200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:64086400-64087200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:64086400-64087200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:64086400-64087200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr11:64086400-64087200	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr11:64086400-64087200	Flanking Active TSS	Brain Germinal Matrix	brain
18	chr11:64086400-64087200	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr11:64086400-64087200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:64086400-64087200	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr11:64086400-64087200	Flanking Active TSS	Pancreas	Pancrea
22	chr11:64086400-64087200	Flanking Active TSS	A549	lung
23	chr11:64086400-64087200	Flanking Active TSS	Dnd41	blood
24	chr11:64086400-64087200	Flanking Active TSS	K562	blood
25	chr11:64086400-64087400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:64086400-64087400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:64086400-64087400	Flanking Active TSS	Colonic Mucosa	Colon
28	chr11:64086400-64087400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr11:64086400-64087400	Flanking Active TSS	Esophagus	oesophagus
30	chr11:64086400-64087400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr11:64086400-64087400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr11:64086400-64087800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr11:64086600-64087200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:64086600-64087200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr11:64086600-64087200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:64086600-64087200	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:64086600-64087200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:64086600-64087200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr11:64086600-64087200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr11:64086600-64087200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:64086600-64087200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr11:64086600-64087200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
43	chr11:64086600-64087200	Enhancers	Right Ventricle	heart
44	chr11:64086600-64087400	Enhancers	Primary B cells from peripheral blood	blood
45	chr11:64086600-64087400	Enhancers	Primary T cells fromperipheralblood	blood
46	chr11:64086600-64087400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr11:64086600-64087400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:64086600-64087400	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr11:64086600-64087400	Flanking Active TSS	Fetal Brain Female	brain
50	chr11:64086600-64087400	Flanking Active TSS	GM12878-XiMat	blood

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