Variant report

Variant	rs55715348
Chromosome Location	chr11:65657093-65657094
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:65654850-65657446	SK-N-SH	brain:	n/a	chr11:65656106-65656119
2	CEBPB	chr11:65656955-65657502	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:65654632-65669034	U87	brain:	n/a	n/a
4	FOS	chr11:65657091-65657224	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr11:65655144-65662194	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:65656891-65657372	HepG2	liver:	n/a	n/a
7	MYC	chr11:65657044-65657339	MCF10A-Er-Src	breast:	n/a	n/a
8	HCFC1	chr11:65657083-65660476	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr11:65655457-65664831	A549	lung:	n/a	n/a
10	POLR2A	chr11:65657084-65657357	ProgFib	skin:	n/a	n/a
11	RELA	chr11:65655758-65657535	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:65655528-65662097	GM12892	blood:	n/a	n/a
13	STAT3	chr11:65657078-65657560	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr11:65657060-65657210	HFF	foreskin:	n/a	n/a
15	MAZ	chr11:65654781-65660027	IMR90	lung:	n/a	chr11:65658152-65658161 chr11:65658196-65658205 chr11:65655739-65655749
16	POLR2A	chr11:65655697-65657160	GM12891	blood:	n/a	n/a
17	CEBPB	chr11:65657024-65657583	A549	lung:	n/a	n/a
18	POLR2A	chr11:65654791-65669084	U87	brain:	n/a	n/a
19	POLR2A	chr11:65654815-65668118	U87	brain:	n/a	n/a
20	POLR2A	chr11:65655351-65662267	K562	blood:	n/a	n/a
21	MXI1	chr11:65654752-65659161	SK-N-SH	brain:	n/a	n/a
22	POLR2A	chr11:65654990-65662134	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:65655714-65662248	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr11:65655307-65657266	K562	blood:	n/a	n/a
25	POLR2A	chr11:65655271-65657144	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr11:65655286-65668944	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr11:65655327-65657376	Hela-S3	cervix:	n/a	n/a
28	MXI1	chr11:65657039-65660041	IMR90	lung:	n/a	n/a
29	SIN3AK20	chr11:65657057-65659683	SK-N-SH	brain:	n/a	n/a
30	POLR2A	chr11:65655504-65662273	HUVEC	blood vessel:	n/a	n/a
31	CHD1	chr11:65655054-65669001	IMR90	lung:	n/a	chr11:65668189-65668199
32	POLR2A	chr11:65655590-65662106	SK-N-SH	brain:	n/a	n/a
33	POLR2A	chr11:65654850-65671347	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr11:65654869-65664897	U87	brain:	n/a	n/a
35	POLR2A	chr11:65655288-65669114	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr11:65654941-65662262	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr11:65655328-65662123	IMR90	lung:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65336026..65338505-chr11:65655594..65658699,3	MCF-7	breast:
2	chr11:65650800..65661192-chr11:65726307..65736419,31	MCF-7	breast:
3	chr11:65652640..65657924-chr11:65769844..65772901,4	MCF-7	breast:
4	chr11:65428955..65432251-chr11:65654758..65658672,5	K562	blood:
5	chr11:65551697..65554555-chr11:65655334..65658299,2	K562	blood:
6	chr11:65654573..65660022-chr11:65726606..65732418,16	MCF-7	breast:
7	chr11:65650579..65663306-chr11:65677153..65690311,39	MCF-7	breast:
8	chr1:8929360..8931517-chr11:65656879..65659148,2	K562	blood:
9	chr11:65546319..65548897-chr11:65656816..65659739,4	K562	blood:
10	chr11:65383055..65385315-chr11:65656769..65659288,2	K562	blood:
11	chr11:65656399..65658937-chr11:66080213..66082790,2	K562	blood:
12	chr11:65656381..65659645-chr11:65787840..65790125,3	K562	blood:
13	chr11:65429654..65431219-chr11:65656697..65658398,2	MCF-7	breast:
14	chr11:65654924..65661575-chr11:65833688..65838665,10	K562	blood:
15	chr11:65478350..65482284-chr11:65653854..65660529,8	K562	blood:
16	chr11:65109448..65111191-chr11:65655775..65657630,2	K562	blood:
17	chr11:65428985..65431213-chr11:65655731..65657899,2	K562	blood:
18	chr11:65145713..65148511-chr11:65656640..65659365,2	MCF-7	breast:
19	chr11:65557488..65562536-chr11:65655379..65657877,5	K562	blood:
20	chr11:65654924..65660442-chr11:65834310..65838665,6	K562	blood:
21	chr11:65655875..65658695-chr11:66035091..66037770,2	MCF-7	breast:
22	chr11:65381958..65383538-chr11:65656328..65658053,2	MCF-7	breast:
23	chr11:65656005..65658506-chr11:65823963..65825663,2	MCF-7	breast:
24	chr11:65485673..65489789-chr11:65654054..65658887,6	K562	blood:
25	chr11:65655400..65657605-chr11:65778805..65780715,2	MCF-7	breast:
26	chr11:65477188..65481209-chr11:65654091..65661409,11	K562	blood:
27	chr11:65557488..65560218-chr11:65655379..65657652,3	K562	blood:
28	chr11:65478149..65481961-chr11:65654535..65657747,6	MCF-7	breast:
29	chr11:65656060..65659299-chr11:65825283..65827500,3	K562	blood:
30	chr11:65656719..65659047-chr11:65835301..65837715,2	MCF-7	breast:
31	chr11:65547541..65549398-chr11:65656149..65657658,2	K562	blood:
32	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

No data

Variant related genes	Relation type
FIBP	TF binding region
CCDC85B	TF binding region
ENSG00000255120	Chromatin interaction
ENSG00000175467	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000172818	Chromatin interaction
ENSG00000175334	Chromatin interaction
ENSG00000254458	Chromatin interaction
ENSG00000074800	Chromatin interaction
ENSG00000175573	Chromatin interaction
ENSG00000174903	Chromatin interaction
ENSG00000255038	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000197136	Chromatin interaction
ENSG00000260233	Chromatin interaction
ENSG00000172922	Chromatin interaction
ENSG00000173465	Chromatin interaction
ENSG00000172543	Chromatin interaction
ENSG00000175550	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000173039	Chromatin interaction
ENSG00000173327	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs12804719	0.91[EUR][1000 genomes]
rs34924158	0.83[EUR][1000 genomes]
rs71455788	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers 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	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers 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	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised 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	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55715348	KAT5,RNASEH2C	cis	brain	BrainEAC
rs55715348	RBM4B,RBM4	cis	brain	BrainEAC

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65654600-65657200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65655000-65657200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr11:65655000-65660200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr11:65655000-65662200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:65655200-65657200	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:65655200-65657200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:65655200-65657200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:65655200-65657400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:65655200-65658200	Active TSS	Aorta	Aorta
10	chr11:65655400-65657200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:65655400-65657200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:65655400-65657400	Active TSS	Fetal Brain Female	brain
13	chr11:65655600-65657200	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:65655800-65657200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:65656000-65657600	Active TSS	Colonic Mucosa	Colon
16	chr11:65656200-65657200	Flanking Active TSS	Fetal Thymus	thymus
17	chr11:65656200-65657800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr11:65656200-65658000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:65656200-65658000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:65656200-65658000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr11:65656200-65658000	Flanking Active TSS	Primary B cells from peripheral blood	blood
22	chr11:65656200-65658000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr11:65656200-65658000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr11:65656200-65658000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr11:65656200-65658000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:65656200-65658000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr11:65656200-65658000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:65656200-65658000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr11:65656200-65658000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr11:65656200-65658000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr11:65656200-65658000	Flanking Active TSS	HUVEC	blood vessel
32	chr11:65656200-65658000	Flanking Active TSS	NH-A	brain
33	chr11:65656200-65658000	Flanking Active TSS	Osteobl	bone
34	chr11:65656200-65658600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65656200-65659600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr11:65656200-65659600	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr11:65656200-65659600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:65656200-65659800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:65656200-65660000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr11:65656200-65660200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr11:65656200-65660200	Flanking Active TSS	Dnd41	blood
42	chr11:65656200-65660800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr11:65656200-65662200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:65656400-65657800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:65656400-65657800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:65656400-65657800	Flanking Active TSS	NHLF	lung
47	chr11:65656400-65658000	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr11:65656400-65658000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:65656400-65658000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr11:65656400-65658000	Flanking Active TSS	Brain Hippocampus Middle	brain

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