Variant report

Variant	rs560240402
Chromosome Location	chr11:86665665-86665666
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	CEBPB	chr11:86665495-86665836	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr11:86665624-86665778	HepG2	liver:	n/a	n/a
3	MAZ	chr11:86665246-86665815	K562	blood:	n/a	n/a
4	MAX	chr11:86665614-86667424	A549	lung:	n/a	chr11:86666540-86666550
5	E2F6	chr11:86665535-86666625	A549	lung:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
6	CHD2	chr11:86665530-86667684	Hela-S3	cervix:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
7	TCF12	chr11:86665476-86666550	A549	lung:	n/a	chr11:86665500-86665507
8	POLR2A	chr11:86665375-86667540	HUVEC	blood vessel:	n/a	n/a
9	MXI1	chr11:86665487-86667576	IMR90	lung:	n/a	n/a
10	MAX	chr11:86665486-86666566	H1-hESC	embryonic stem cell:	n/a	chr11:86666540-86666550
11	CTCF	chr11:86665600-86665750	GM12872	blood:	n/a	n/a
12	POLR2A	chr11:86665609-86667546	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr11:86665660-86665810	HUVEC	blood vessel:	n/a	n/a
14	CEBPB	chr11:86665510-86665811	IMR90	lung:	n/a	n/a
15	POLR2A	chr11:86665217-86667583	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:86665267-86667776	HepG2	liver:	n/a	n/a
17	MAX	chr11:86665625-86667834	ECC-1	luminal epithelium:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
18	MAX	chr11:86665577-86666579	H1-hESC	embryonic stem cell:	n/a	chr11:86666540-86666550
19	POLR2A	chr11:86665206-86667957	K562	blood:	n/a	n/a
20	MAX	chr11:86665663-86666579	K562	blood:	n/a	chr11:86666540-86666550
21	CTCF	chr11:86665372-86667701	A549	lung:	n/a	chr11:86666364-86666377 chr11:86667576-86667584 chr11:86665814-86665823 chr11:86666248-86666261
22	POLR2A	chr11:86665163-86667711	HUVEC	blood vessel:	n/a	n/a
23	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
24	CEBPB	chr11:86665632-86665832	K562	blood:	n/a	n/a
25	POLR2A	chr11:86665285-86668094	HepG2	liver:	n/a	n/a
26	MAX	chr11:86665340-86667701	HepG2	liver:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
27	ZBTB7A	chr11:86665404-86666877	K562	blood:	n/a	n/a
28	RCOR1	chr11:86665331-86667827	K562	blood:	n/a	n/a
29	E2F6	chr11:86665553-86666981	H1-hESC	embryonic stem cell:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
30	E2F6	chr11:86665376-86667604	Hela-S3	cervix:	n/a	chr11:86667260-86667269 chr11:86666197-86666207 chr11:86667069-86667081 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86667072-86667081 chr11:86667316-86667328 chr11:86666542-86666551
31	CEBPB	chr11:86665525-86665804	HepG2	liver:	n/a	n/a
32	SMARCB1	chr11:86665497-86667650	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:86665606-86665899	MCF-7	breast:	n/a	n/a
34	MAX	chr11:86665571-86667676	A549	lung:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
35	MAX	chr11:86665627-86667624	ECC-1	luminal epithelium:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
36	POLR2A	chr11:86665150-86665732	HUVEC	blood vessel:	n/a	n/a
37	MYC	chr11:86665642-86667590	K562	blood:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
38	POLR2A	chr11:86665305-86666409	K562	blood:	n/a	n/a
39	MAX	chr11:86665414-86667906	HepG2	liver:	n/a	chr11:86666540-86666550 chr11:86667471-86667480

No.	Distal block	Cell Line	Cell type
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
2	chr11:86648192..86652740-chr11:86665562..86667953,4	K562	blood:
3	chr11:86651265..86655109-chr11:86664872..86666696,3	MCF-7	breast:
4	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: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3331243	chr11:86665354-86668252	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86653200-86665800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:86663200-86667800	Active TSS	Right Ventricle	heart
3	chr11:86663400-86667400	Active TSS	Fetal Brain Female	brain
4	chr11:86663400-86667400	Active TSS	Left Ventricle	heart
5	chr11:86663400-86667600	Active TSS	Right Atrium	heart
6	chr11:86663400-86668000	Active TSS	Fetal Kidney	kidney
7	chr11:86663600-86666000	Active TSS	Stomach Smooth Muscle	stomach
8	chr11:86663600-86667400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:86663600-86667400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:86663600-86667600	Active TSS	Psoas Muscle	Psoas
11	chr11:86663600-86667600	Active TSS	Rectal Smooth Muscle	rectum
12	chr11:86663600-86667800	Active TSS	Colon Smooth Muscle	Colon
13	chr11:86663600-86667800	Active TSS	Ovary	ovary
14	chr11:86663600-86668000	Active TSS	Aorta	Aorta
15	chr11:86663800-86667400	Active TSS	Fetal Stomach	stomach
16	chr11:86664000-86665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:86664000-86665800	Active TSS	Colonic Mucosa	Colon
18	chr11:86664000-86666200	Flanking Active TSS	Liver	Liver
19	chr11:86664000-86667800	Active TSS	Brain Anterior Caudate	brain
20	chr11:86664000-86667800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:86664200-86666800	Active TSS	HUVEC	blood vessel
22	chr11:86664200-86667600	Active TSS	Brain Substantia Nigra	brain
23	chr11:86664200-86667600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr11:86664200-86667800	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:86664200-86667800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:86664400-86667400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr11:86664400-86667800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:86664800-86666000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr11:86664800-86666200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:86664800-86667400	Active TSS	Esophagus	oesophagus
31	chr11:86665000-86666200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
32	chr11:86665200-86665800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:86665200-86665800	Flanking Active TSS	Brain Cingulate Gyrus	brain
34	chr11:86665200-86665800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
35	chr11:86665200-86665800	Flanking Active TSS	Hela-S3	cervix
36	chr11:86665200-86665800	Flanking Active TSS	NHLF	lung
37	chr11:86665200-86665800	Flanking Active TSS	Osteobl	bone
38	chr11:86665200-86666000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:86665200-86666000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
40	chr11:86665200-86666000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
41	chr11:86665200-86666000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:86665200-86666000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:86665200-86666000	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr11:86665200-86666000	Flanking Active TSS	Fetal Heart	heart
45	chr11:86665200-86666000	Bivalent/Poised TSS	Thymus	Thymus
46	chr11:86665200-86666000	Flanking Active TSS	K562	blood
47	chr11:86665200-86666000	Flanking Active TSS	NH-A	brain
48	chr11:86665200-86666200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:86665200-86666200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:86665200-86667400	Active TSS	Brain Angular Gyrus	brain

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