Variant report

Variant	rs562881517
Chromosome Location	chr11:86665257-86665258
allele	C/T
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	MAZ	chr11:86665246-86665815	K562	blood:	n/a	n/a
2	RCOR1	chr11:86665221-86665601	K562	blood:	n/a	n/a
3	POLR2A	chr11:86665217-86667583	HUVEC	blood vessel:	n/a	n/a
4	MAFK	chr11:86665133-86665524	HepG2	liver:	n/a	n/a
5	MBD4	chr11:86665160-86665595	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:86665206-86667957	K562	blood:	n/a	n/a
7	POLR2A	chr11:86665187-86665264	MCF10A-Er-Src	breast:	n/a	n/a
8	MAX	chr11:86665245-86665617	K562	blood:	n/a	n/a
9	POLR2A	chr11:86665163-86667711	HUVEC	blood vessel:	n/a	n/a
10	E2F6	chr11:86665189-86666587	H1-hESC	embryonic stem cell:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
11	BHLHE40	chr11:86665203-86665644	K562	blood:	n/a	n/a
12	POLR2A	chr11:86665150-86665732	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
2	chr11:86651265..86655109-chr11:86664872..86666696,3	MCF-7	breast:
3	chr11:86649897..86655027-chr11:86664913..86668349,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246523	TF binding region
ENSG00000166575	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS 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	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	esv3325080	chr11:86664929-86667677	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86653200-86665800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:86657600-86665400	Weak transcription	Small Intestine	intestine
3	chr11:86661600-86665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:86662600-86665400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:86663200-86665400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr11:86663200-86667800	Active TSS	Right Ventricle	heart
7	chr11:86663400-86667400	Active TSS	Fetal Brain Female	brain
8	chr11:86663400-86667400	Active TSS	Left Ventricle	heart
9	chr11:86663400-86667600	Active TSS	Right Atrium	heart
10	chr11:86663400-86668000	Active TSS	Fetal Kidney	kidney
11	chr11:86663600-86665400	Active TSS	Fetal Muscle Trunk	muscle
12	chr11:86663600-86665400	Active TSS	Lung	lung
13	chr11:86663600-86665400	Weak transcription	Spleen	Spleen
14	chr11:86663600-86666000	Active TSS	Stomach Smooth Muscle	stomach
15	chr11:86663600-86667400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:86663600-86667400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:86663600-86667600	Active TSS	Psoas Muscle	Psoas
18	chr11:86663600-86667600	Active TSS	Rectal Smooth Muscle	rectum
19	chr11:86663600-86667800	Active TSS	Colon Smooth Muscle	Colon
20	chr11:86663600-86667800	Active TSS	Ovary	ovary
21	chr11:86663600-86668000	Active TSS	Aorta	Aorta
22	chr11:86663800-86665600	Active TSS	Adipose Nuclei	Adipose
23	chr11:86663800-86667400	Active TSS	Fetal Stomach	stomach
24	chr11:86664000-86665400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr11:86664000-86665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr11:86664000-86665800	Active TSS	Colonic Mucosa	Colon
27	chr11:86664000-86666200	Flanking Active TSS	Liver	Liver
28	chr11:86664000-86667800	Active TSS	Brain Anterior Caudate	brain
29	chr11:86664000-86667800	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr11:86664200-86665400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:86664200-86666800	Active TSS	HUVEC	blood vessel
32	chr11:86664200-86667600	Active TSS	Brain Substantia Nigra	brain
33	chr11:86664200-86667600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr11:86664200-86667800	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr11:86664200-86667800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr11:86664400-86667400	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:86664400-86667800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:86664600-86665400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr11:86664800-86665400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:86664800-86665400	Active TSS	Pancreas	Pancrea
41	chr11:86664800-86666000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
42	chr11:86664800-86666200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:86664800-86667400	Active TSS	Esophagus	oesophagus
44	chr11:86665000-86666200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr11:86665200-86665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:86665200-86665400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:86665200-86665400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:86665200-86665400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:86665200-86665400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:86665200-86665400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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