Variant report

Variant	rs55951521
Chromosome Location	chr11:63765247-63765248
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63764970-63765441	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:63765064-63767984	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:63763487-63769382	K562	blood:	n/a	n/a
4	POLR2A	chr11:63764931-63765844	K562	blood:	n/a	n/a
5	POLR2A	chr11:63763786-63766644	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:63762807-63767952	GM12892	blood:	n/a	n/a
7	POLR2A	chr11:63765113-63765272	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:63764879-63767892	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:63763958-63765381	K562	blood:	n/a	n/a
10	POLR2A	chr11:63765175-63765456	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:63765179-63767745	GM12892	blood:	n/a	n/a
12	USF1	chr11:63765017-63765254	K562	blood:	n/a	n/a
13	POLR2A	chr11:63765083-63765301	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:63765114-63768623	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr11:63765239-63765812	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63741871..63744034-chr11:63764319..63766020,2	MCF-7	breast:
2	chr11:63765241..63769899-chr11:63951624..63954334,5	MCF-7	breast:
3	chr11:63752288..63756029-chr11:63763681..63768717,11	MCF-7	breast:

No data

Variant related genes	Relation type
OTUB1	TF binding region
ENSG00000167770	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000256100	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11231665	1.00[EUR][1000 genomes]
rs11231673	1.00[EUR][1000 genomes]
rs12285283	1.00[EUR][1000 genomes]
rs17403349	1.00[EUR][1000 genomes]
rs473578	1.00[ASN][1000 genomes]
rs55956041	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217591	1.00[EUR][1000 genomes]
rs57868637	1.00[EUR][1000 genomes]
rs59382023	1.00[ASN][1000 genomes]
rs59502039	1.00[EUR][1000 genomes]
rs60472198	1.00[ASN][1000 genomes]
rs60960641	1.00[ASN][1000 genomes]
rs61653882	1.00[EUR][1000 genomes]
rs7106510	1.00[EUR][1000 genomes]
rs7938631	1.00[EUR][1000 genomes]
rs9326430	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	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
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised 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	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	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
15	nsv897643	chr11:63754986-63844683	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
16	nsv897644	chr11:63754986-63849330	Bivalent Enhancer Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
17	nsv897645	chr11:63754986-63859751	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	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
19	nsv897647	chr11:63755961-63835611	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
20	nsv897648	chr11:63761169-63774370	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
21	nsv897649	chr11:63761169-63844683	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
22	nsv897650	chr11:63761169-63849330	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
23	nsv897651	chr11:63761169-63863405	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
24	nsv897652	chr11:63761169-63866959	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv897653	chr11:63761169-63875456	Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63754800-63767600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:63755000-63766600	Weak transcription	Right Atrium	heart
3	chr11:63755000-63769000	Weak transcription	Fetal Kidney	kidney
4	chr11:63755200-63766600	Weak transcription	Stomach Mucosa	stomach
5	chr11:63755200-63775200	Weak transcription	Psoas Muscle	Psoas
6	chr11:63755400-63765400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:63755400-63765400	Strong transcription	Fetal Stomach	stomach
8	chr11:63755400-63765600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:63755400-63766200	Strong transcription	Fetal Muscle Leg	muscle
10	chr11:63755400-63766200	Strong transcription	Fetal Thymus	thymus
11	chr11:63755400-63766400	Strong transcription	NHLF	lung
12	chr11:63755400-63766600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:63755600-63765800	Strong transcription	NHEK	skin
14	chr11:63755600-63766000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr11:63755600-63766400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:63755800-63766200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:63756000-63765400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:63756000-63765600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:63756000-63765800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr11:63756000-63766000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr11:63756000-63766000	Strong transcription	Fetal Brain Female	brain
22	chr11:63756000-63766000	Strong transcription	Stomach Smooth Muscle	stomach
23	chr11:63756000-63766400	Weak transcription	Fetal Heart	heart
24	chr11:63756200-63765600	Strong transcription	Fetal Muscle Trunk	muscle
25	chr11:63756200-63766200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr11:63756200-63766800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr11:63756200-63769200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:63756400-63766200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr11:63756400-63766400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:63756400-63766400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:63758400-63766200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:63758600-63766600	Strong transcription	Fetal Intestine Small	intestine
33	chr11:63758800-63765600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:63759000-63766000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:63759200-63766000	Strong transcription	Brain Hippocampus Middle	brain
36	chr11:63759200-63767400	Weak transcription	NHDF-Ad	bronchial
37	chr11:63759200-63774800	Weak transcription	HSMMtube	muscle
38	chr11:63759400-63767400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr11:63760200-63765600	Strong transcription	Ovary	ovary
40	chr11:63760200-63766000	Strong transcription	Brain Anterior Caudate	brain
41	chr11:63760200-63766200	Strong transcription	Primary T cells from cord blood	blood
42	chr11:63760200-63766400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:63760200-63766400	Strong transcription	Fetal Intestine Large	intestine
44	chr11:63760400-63765400	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:63760600-63765400	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:63760600-63766800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr11:63760600-63771800	Strong transcription	Dnd41	blood
48	chr11:63761000-63765800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:63761000-63765800	Strong transcription	Pancreas	Pancrea
50	chr11:63761000-63766000	Strong transcription	Liver	Liver

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