Variant report

Variant	rs547668271
Chromosome Location	chr11:86666453-86666454
allele	A/C
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	GTF2F1	chr11:86666297-86666509	K562	blood:	n/a	n/a
2	POLR2A	chr11:86665827-86667368	K562	blood:	n/a	n/a
3	TBP	chr11:86666239-86667348	HepG2	liver:	n/a	n/a
4	ZNF143	chr11:86666330-86667602	H1-hESC	embryonic stem cell:	n/a	chr11:86666371-86666381 chr11:86666370-86666380
5	MYC	chr11:86666280-86667528	NB4	blood:	n/a	chr11:86666540-86666550 chr11:86667471-86667480
6	POLR2A	chr11:86666126-86666546	Hela-S3	cervix:	n/a	n/a
7	ZNF143	chr11:86666371-86666507	GM12878	blood:	n/a	chr11:86666371-86666381
8	MAX	chr11:86665614-86667424	A549	lung:	n/a	chr11:86666540-86666550
9	POLR2A	chr11:86666196-86667251	IMR90	lung:	n/a	n/a
10	E2F6	chr11:86665535-86666625	A549	lung:	n/a	chr11:86666197-86666207 chr11:86666371-86666381 chr11:86666370-86666380 chr11:86666194-86666204 chr11:86666542-86666551
11	MYC	chr11:86666344-86666848	MCF10A-Er-Src	breast:	n/a	chr11:86666540-86666550
12	CHD2	chr11:86666332-86666564	GM12878	blood:	n/a	chr11:86666535-86666545
13	PBX3	chr11:86666228-86666782	SK-N-SH	brain:	n/a	chr11:86666491-86666511
14	CHD2	chr11:86665530-86667684	Hela-S3	cervix:	n/a	chr11:86667070-86667080 chr11:86666535-86666545
15	YY1	chr11:86666277-86666516	GM12878	blood:	n/a	chr11:86666370-86666384
16	TAF1	chr11:86666213-86666536	SK-N-SH	brain:	n/a	n/a
17	YY1	chr11:86665931-86666734	HepG2	liver:	n/a	chr11:86666193-86666207 chr11:86666542-86666551 chr11:86666202-86666216 chr11:86666255-86666266 chr11:86666370-86666384
18	CTCF	chr11:86666380-86666530	GM12875	blood:	n/a	n/a
19	TCF12	chr11:86666054-86666604	ECC-1	luminal epithelium:	n/a	n/a
20	POLR2A	chr11:86666101-86667545	H1-hESC	embryonic stem cell:	n/a	n/a
21	GTF2B	chr11:86666349-86666549	K562	blood:	n/a	n/a
22	EP300	chr11:86666363-86666535	K562	blood:	n/a	chr11:86666370-86666379 chr11:86666515-86666531 chr11:86666375-86666384 chr11:86666372-86666381 chr11:86666441-86666457
23	TCF12	chr11:86665476-86666550	A549	lung:	n/a	chr11:86665500-86665507
24	CTCF	chr11:86666415-86666493	GM10248	blood:	n/a	n/a
25	HEY1	chr11:86666107-86666541	HepG2	liver:	n/a	n/a
26	CTCF	chr11:86666340-86666490	GM12871	blood:	n/a	chr11:86666364-86666377
27	CTCF	chr11:86666380-86666530	GM12867	blood:	n/a	n/a
28	CREB1	chr11:86666204-86666718	A549	lung:	n/a	n/a
29	MAX	chr11:86666299-86666562	K562	blood:	n/a	chr11:86666540-86666550
30	CTCF	chr11:86666320-86666470	AG09319	gingival:	n/a	chr11:86666364-86666377
31	RAD21	chr11:86666265-86666550	K562	blood:	n/a	chr11:86666363-86666377
32	CTCF	chr11:86666400-86666550	Hela-S3	cervix:	n/a	n/a
33	RCOR1	chr11:86666239-86667591	HepG2	liver:	n/a	n/a
34	CBX3	chr11:86666204-86666558	K562	blood:	n/a	n/a
35	POLR2A	chr11:86665375-86667540	HUVEC	blood vessel:	n/a	n/a
36	HCFC1	chr11:86666221-86667485	K562	blood:	n/a	n/a
37	CTCF	chr11:86666380-86666530	AoAF	blood vessel:	n/a	n/a
38	TBP	chr11:86666048-86667271	K562	blood:	n/a	n/a
39	UBTF	chr11:86666019-86667251	K562	blood:	n/a	n/a
40	POLR2A	chr11:86665993-86667248	ProgFib	skin:	n/a	n/a
41	POLR2A	chr11:86665958-86667766	Hela-S3	cervix:	n/a	n/a
42	CREB1	chr11:86666064-86667577	HepG2	liver:	n/a	n/a
43	POLR2A	chr11:86666097-86667487	K562	blood:	n/a	n/a
44	YY1	chr11:86666176-86666570	H1-hESC	embryonic stem cell:	n/a	chr11:86666193-86666207 chr11:86666542-86666551 chr11:86666202-86666216 chr11:86666255-86666266 chr11:86666370-86666384
45	PBX3	chr11:86666364-86666566	GM12878	blood:	n/a	chr11:86666491-86666511
46	POLR2A	chr11:86666170-86667308	HEK293	kidney:	n/a	n/a
47	POLR2A	chr11:86665980-86666547	PANC-1	pancreas:	n/a	n/a
48	MXI1	chr11:86665487-86667576	IMR90	lung:	n/a	n/a
49	TAF1	chr11:86666087-86666553	H1-hESC	embryonic stem cell:	n/a	n/a
50	JUND	chr11:86666317-86667748	K562	blood:	n/a	chr11:86666546-86666555 chr11:86667226-86667235

No.	Distal block	Cell Line	Cell type
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
2	chr11:86666227..86667215-chr15:65588303..65589193,2	Hela-S3	cervix:
3	chr11:86648192..86652740-chr11:86665562..86667953,4	K562	blood:
4	chr11:86651265..86655109-chr11:86664872..86666696,3	MCF-7	breast:
5	chr11:86649897..86655027-chr11:86664913..86668349,5	MCF-7	breast:

Variant related genes	Relation type
FZD4	TF binding region
ENSG00000246523	TF binding region
ENSG00000199568	Chromatin interaction
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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86663200-86667800	Active TSS	Right Ventricle	heart
2	chr11:86663400-86667400	Active TSS	Fetal Brain Female	brain
3	chr11:86663400-86667400	Active TSS	Left Ventricle	heart
4	chr11:86663400-86667600	Active TSS	Right Atrium	heart
5	chr11:86663400-86668000	Active TSS	Fetal Kidney	kidney
6	chr11:86663600-86667400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86663600-86667400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:86663600-86667600	Active TSS	Psoas Muscle	Psoas
9	chr11:86663600-86667600	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:86663600-86667800	Active TSS	Colon Smooth Muscle	Colon
11	chr11:86663600-86667800	Active TSS	Ovary	ovary
12	chr11:86663600-86668000	Active TSS	Aorta	Aorta
13	chr11:86663800-86667400	Active TSS	Fetal Stomach	stomach
14	chr11:86664000-86667800	Active TSS	Brain Anterior Caudate	brain
15	chr11:86664000-86667800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:86664200-86666800	Active TSS	HUVEC	blood vessel
17	chr11:86664200-86667600	Active TSS	Brain Substantia Nigra	brain
18	chr11:86664200-86667600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr11:86664200-86667800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:86664200-86667800	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:86664400-86667400	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr11:86664400-86667800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:86664800-86667400	Active TSS	Esophagus	oesophagus
24	chr11:86665200-86667400	Active TSS	Brain Angular Gyrus	brain
25	chr11:86665200-86667600	Active TSS	Gastric	stomach
26	chr11:86665200-86667800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:86665400-86667200	Active TSS	Spleen	Spleen
28	chr11:86665400-86667400	Active TSS	Small Intestine	intestine
29	chr11:86665400-86667600	Active TSS	HSMMtube	muscle
30	chr11:86665400-86667800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr11:86665600-86666800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
32	chr11:86665600-86667200	Active TSS	HepG2	liver
33	chr11:86665600-86667400	Active TSS	Fetal Lung	lung
34	chr11:86665600-86667600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr11:86665600-86667600	Active TSS	NHDF-Ad	bronchial
36	chr11:86665600-86667800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:86665600-86668000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:86665800-86666600	Active TSS	Osteobl	bone
39	chr11:86665800-86666800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr11:86665800-86666800	Active TSS	Fetal Muscle Leg	muscle
41	chr11:86665800-86666800	Bivalent/Poised TSS	GM12878-XiMat	blood
42	chr11:86665800-86667200	Active TSS	Fetal Muscle Trunk	muscle
43	chr11:86665800-86667400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:86665800-86667400	Active TSS	Brain Cingulate Gyrus	brain
45	chr11:86665800-86667400	Active TSS	Lung	lung
46	chr11:86665800-86667400	Active TSS	Placenta Amnion	Placenta Amnion
47	chr11:86665800-86667400	Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:86665800-86667400	Active TSS	A549	lung
49	chr11:86665800-86667400	Active TSS	NHLF	lung
50	chr11:86665800-86667600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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