Variant report

Variant	rs528105658
Chromosome Location	chr11:65839020-65839021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr11:65836170-65839866	IMR90	lung:	n/a	chr11:65837642-65837651 chr11:65837468-65837478
2	WRNIP1	chr11:65838609-65839473	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:65838532-65839028	SK-N-SH	brain:	n/a	n/a
4	CHD2	chr11:65838801-65839051	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr11:65836442-65839722	SK-N-SH	brain:	n/a	n/a
6	GTF2F1	chr11:65838764-65839143	Hela-S3	cervix:	n/a	n/a
7	STAT5A	chr11:65838828-65839311	GM12878	blood:	n/a	n/a
8	MXI1	chr11:65836611-65839059	IMR90	lung:	n/a	n/a
9	SIN3AK20	chr11:65836737-65839079	MCF-7	breast:	n/a	n/a
10	MTA3	chr11:65838543-65839240	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:65838232-65839032	HUVEC	blood vessel:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65816864..65823380-chr11:65832037..65840391,16	MCF-7	breast:
2	chr11:65812922..65815510-chr11:65837744..65839701,2	K562	blood:
3	chr11:65836209..65839625-chr11:66023244..66027607,5	K562	blood:
4	chr11:65654814..65656550-chr11:65837621..65839885,2	MCF-7	breast:
5	chr11:65836630..65840121-chr11:66032259..66035828,5	MCF-7	breast:
6	chr11:65779081..65782393-chr11:65836476..65839425,3	MCF-7	breast:
7	chr11:65837353..65839732-chr11:66024702..66027312,4	MCF-7	breast:
8	chr11:65788387..65789947-chr11:65837601..65839297,2	K562	blood:
9	chr11:65836209..65839676-chr11:66023244..66028603,5	K562	blood:
10	chr11:65826244..65833224-chr11:65834439..65839387,11	MCF-7	breast:
11	chr11:65837641..65839546-chr11:66050688..66053288,2	K562	blood:
12	chr11:65623430..65625691-chr11:65837839..65839866,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255038	TF binding region
ENSG00000174996	Chromatin interaction
ENSG00000254762	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000174851	Chromatin interaction
ENSG00000175315	Chromatin interaction
ENSG00000175294	Chromatin interaction
ENSG00000172500	Chromatin interaction
ENSG00000175229	Chromatin interaction
ENSG00000087365	Chromatin interaction
ENSG00000238752	Chromatin interaction
ENSG00000254855	Chromatin interaction
ENSG00000172757	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	nsv897768	chr11:65715210-65842064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription 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	61 gene(s)	inside rSNPs	diseases
3	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
4	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3321690	chr11:65835376-65839974	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
7	esv3377128	chr11:65836776-65839324	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
8	esv3340048	chr11:65837001-65839549	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65836800-65839600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr11:65837000-65839200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:65837000-65839200	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr11:65837000-65839200	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:65837000-65839400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:65837000-65839600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:65837000-65839800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:65837200-65839200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:65837200-65839200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:65837200-65839200	Active TSS	Aorta	Aorta
11	chr11:65837200-65839200	Active TSS	Esophagus	oesophagus
12	chr11:65837200-65839200	Active TSS	Gastric	stomach
13	chr11:65837200-65839200	Active TSS	Left Ventricle	heart
14	chr11:65837200-65839200	Active TSS	Lung	lung
15	chr11:65837200-65839400	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:65837200-65839400	Active TSS	Rectal Smooth Muscle	rectum
17	chr11:65837200-65839400	Active TSS	Right Atrium	heart
18	chr11:65837200-65839400	Active TSS	Right Ventricle	heart
19	chr11:65837200-65839400	Active TSS	A549	lung
20	chr11:65837200-65839400	Active TSS	HSMM	muscle
21	chr11:65837200-65839600	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr11:65837200-65839600	Active TSS	HSMMtube	muscle
23	chr11:65837400-65839200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:65837400-65839200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:65837400-65839200	Active TSS	Brain Hippocampus Middle	brain
26	chr11:65837400-65839200	Active TSS	Fetal Muscle Trunk	muscle
27	chr11:65837400-65839400	Active TSS	Brain Anterior Caudate	brain
28	chr11:65837400-65840000	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr11:65837600-65839800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:65837600-65839800	Active TSS	GM12878-XiMat	blood
31	chr11:65838000-65839200	Active TSS	Fetal Kidney	kidney
32	chr11:65838000-65840600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:65838200-65840000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:65838400-65839200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr11:65838400-65839200	Flanking Active TSS	Liver	Liver
36	chr11:65838400-65839400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:65838400-65839400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr11:65838400-65839400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:65838400-65839400	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr11:65838400-65839400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr11:65838400-65839400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:65838400-65839400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr11:65838400-65839400	Flanking Active TSS	Dnd41	blood
44	chr11:65838400-65839600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr11:65838400-65839600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:65838400-65839800	Flanking Active TSS	Fetal Thymus	thymus
47	chr11:65838400-65839800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:65838400-65841000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
49	chr11:65838600-65839200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:65838600-65839200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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