Variant report

Variant	rs551305444
Chromosome Location	chr11:66235309-66235310
allele	C/G
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	SPI1	chr11:66235213-66235716	HL-60	blood:	n/a	n/a
2	REST	chr11:66233615-66235434	H1-neurons	neurons:	n/a	chr11:66234642-66234655 chr11:66234284-66234297 chr11:66234281-66234301 chr11:66233925-66233938 chr11:66235090-66235099
3	RFX5	chr11:66235304-66235465	HepG2	liver:	n/a	chr11:66235420-66235435 chr11:66235419-66235433
4	SPI1	chr11:66235306-66235521	GM12878	blood:	n/a	n/a
5	SIN3A	chr11:66233468-66235321	H1-hESC	embryonic stem cell:	n/a	chr11:66234618-66234629 chr11:66235095-66235106 chr11:66234281-66234294
6	POLR2A	chr11:66235238-66235371	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66056443..66058001-chr11:66233294..66235684,2	MCF-7	breast:
2	chr11:66137724..66140546-chr11:66233440..66235364,2	MCF-7	breast:
3	chr11:66205149..66207043-chr11:66233643..66235724,3	MCF-7	breast:
4	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
5	chr11:66190055..66192720-chr11:66235255..66236874,2	K562	blood:
6	chr11:66204104..66208501-chr11:66232741..66235835,4	K562	blood:
7	chr11:66235227..66237987-chr11:66260877..66263080,2	K562	blood:
8	chr11:66112568..66115991-chr11:66232682..66235735,3	K562	blood:
9	chr11:66204033..66208144-chr11:66232603..66235665,3	K562	blood:
10	chr11:66233713..66235864-chr11:66383889..66386308,2	MCF-7	breast:
11	chr11:66233892..66235640-chr11:66313416..66314952,2	K562	blood:
12	chr11:64543824..64546166-chr11:66233104..66235592,3	MCF-7	breast:
13	chr11:66234037..66235984-chr11:66277120..66279562,2	MCF-7	breast:
14	chr11:66234759..66237082-chr11:66443933..66445576,2	MCF-7	breast:

Variant related genes	Relation type
MRPL11	TF binding region
ENSG00000239306	Chromatin interaction
ENSG00000174669	Chromatin interaction
ENSG00000174684	Chromatin interaction
ENSG00000174576	Chromatin interaction
ENSG00000248746	Chromatin interaction
ENSG00000174547	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000174165	Chromatin interaction
ENSG00000248643	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174483	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3332492	chr11:66233476-66235774	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66234600-66235400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr11:66234600-66235400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr11:66234600-66235400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr11:66234600-66235800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:66234800-66235400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:66234800-66235400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:66234800-66235400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr11:66234800-66235400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr11:66234800-66235400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
10	chr11:66234800-66235400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr11:66234800-66235400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr11:66234800-66235400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr11:66234800-66235400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:66234800-66235400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr11:66234800-66235400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr11:66234800-66235400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr11:66234800-66235400	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr11:66234800-66235400	Flanking Active TSS	Fetal Intestine Small	intestine
19	chr11:66234800-66235400	Flanking Active TSS	Fetal Muscle Leg	muscle
20	chr11:66234800-66235400	Flanking Active TSS	Lung	lung
21	chr11:66234800-66235400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr11:66234800-66235400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr11:66234800-66235400	Flanking Active TSS	HMEC	breast
24	chr11:66234800-66235400	Flanking Active TSS	NHEK	skin
25	chr11:66234800-66235400	Flanking Active TSS	NHLF	lung
26	chr11:66234800-66235600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:66234800-66235600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr11:66234800-66235600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr11:66234800-66235600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr11:66234800-66235600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr11:66234800-66235600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:66234800-66235600	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr11:66234800-66235600	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:66234800-66235600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr11:66234800-66235600	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr11:66234800-66235600	Flanking Active TSS	Hela-S3	cervix
37	chr11:66234800-66235800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:66234800-66235800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:66234800-66235800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:66234800-66235800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:66234800-66235800	Flanking Active TSS	Dnd41	blood
42	chr11:66234800-66235800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:66235000-66235400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:66235000-66235400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr11:66235000-66235400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:66235000-66235400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:66235000-66235400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
48	chr11:66235000-66235400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr11:66235000-66235400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:66235000-66235400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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