Variant report

Variant	rs552997404
Chromosome Location	chr11:66790366-66790367
allele	G/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	RFX5	chr11:66789783-66790368	Hela-S3	cervix:	n/a	n/a
2	EGR1	chr11:66789553-66790728	MCF-7	breast:	n/a	chr11:66789803-66789816
3	ELF1	chr11:66789598-66790394	MCF-7	breast:	n/a	n/a
4	MAX	chr11:66789735-66791655	A549	lung:	n/a	chr11:66790997-66791007
5	EGR1	chr11:66789533-66790430	MCF-7	breast:	n/a	chr11:66789803-66789816
6	RCOR1	chr11:66789520-66790678	Hela-S3	cervix:	n/a	n/a
7	SMC3	chr11:66789758-66790600	Hela-S3	cervix:	n/a	n/a
8	MAX	chr11:66789743-66790471	ECC-1	luminal epithelium:	n/a	n/a
9	CTCF	chr11:66790220-66790370	SAEC	small airway:	n/a	n/a
10	MYC	chr11:66789743-66790438	MCF10A-Er-Src	breast:	n/a	n/a
11	NFIC	chr11:66789630-66790665	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr11:66790220-66790370	HEK293	kidney:	n/a	n/a
13	MAFK	chr11:66789913-66790387	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:66790130-66790672	Hela-S3	cervix:	n/a	n/a
15	MAX	chr11:66789704-66791377	Hela-S3	cervix:	n/a	chr11:66790997-66791007
16	ZBTB7A	chr11:66789748-66791271	ECC-1	luminal epithelium:	n/a	n/a
17	RAD21	chr11:66788989-66790406	HCT-116	colon:	n/a	chr11:66789709-66789722
18	HDAC2	chr11:66789634-66790787	MCF-7	breast:	n/a	n/a
19	TCF12	chr11:66789623-66790698	A549	lung:	n/a	chr11:66789837-66789844 chr11:66789853-66789863
20	GTF2F1	chr11:66789877-66790455	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr11:66789860-66790451	Hela-S3	cervix:	n/a	n/a
22	EGR1	chr11:66789443-66790631	HCT-116	colon:	n/a	chr11:66789803-66789816
23	NFIC	chr11:66789716-66790489	SK-N-SH	brain:	n/a	n/a
24	MYC	chr11:66789701-66790584	Hela-S3	cervix:	n/a	n/a
25	NR2F2	chr11:66789574-66790726	MCF-7	breast:	n/a	n/a
26	CTCF	chr11:66790280-66790430	RPTEC	kidney:	n/a	n/a
27	GATA3	chr11:66789557-66790507	MCF-7	breast:	n/a	n/a
28	SIN3AK20	chr11:66789540-66791922	MCF-7	breast:	n/a	n/a
29	SP1	chr11:66789584-66790714	HCT-116	colon:	n/a	chr11:66789801-66789815 chr11:66789795-66789809 chr11:66789901-66789910
30	RAD21	chr11:66789915-66790409	Hela-S3	cervix:	n/a	n/a
31	TFAP2A	chr11:66789749-66790915	Hela-S3	cervix:	n/a	chr11:66790835-66790847 chr11:66790565-66790580 chr11:66790533-66790545
32	MXI1	chr11:66789822-66790590	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr11:66790228-66790650	HCT-116	colon:	n/a	n/a
34	MAX	chr11:66790326-66791517	A549	lung:	n/a	chr11:66790997-66791007
35	CTCF	chr11:66790260-66790410	HCPEpiC	choroid plexus:	n/a	n/a
36	GABPA	chr11:66789736-66790555	MCF-7	breast:	n/a	chr11:66789945-66789954
37	NFIC	chr11:66789605-66790379	ECC-1	luminal epithelium:	n/a	n/a
38	TBP	chr11:66790003-66790390	Hela-S3	cervix:	n/a	n/a
39	EP300	chr11:66789633-66790413	MCF-7	breast:	n/a	n/a
40	POLR2A	chr11:66789750-66790723	HCT-116	colon:	n/a	n/a
41	ZBTB7A	chr11:66790346-66791032	ECC-1	luminal epithelium:	n/a	n/a
42	MAZ	chr11:66789711-66790648	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr11:66790240-66790390	AG09319	gingival:	n/a	n/a
44	FOSL2	chr11:66789724-66790414	MCF-7	breast:	n/a	n/a
45	NR2F2	chr11:66789635-66790619	MCF-7	breast:	n/a	n/a
46	SUZ12	chr11:66790239-66792182	NT2-D1	testis:	n/a	n/a
47	MAX	chr11:66789617-66790391	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:66789717-66791255	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:66790300-66790450	Hela-S3	cervix:	n/a	n/a
50	CTCF	chr11:66790240-66790390	SAEC	small airway:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66786143..66803039-chr11:66815769..66832347,160	MCF-7	breast:
2	chr11:66789062..66792605-chr11:66793092..66798254,6	K562	blood:
3	chr11:66762967..66768319-chr11:66788576..66792799,9	MCF-7	breast:
4	chr11:66622967..66625397-chr11:66790084..66792768,5	MCF-7	breast:
5	chr11:66762811..66772502-chr11:66787021..66797000,34	MCF-7	breast:
6	chr11:66788543..66790931-chr11:67139607..67141552,2	MCF-7	breast:
7	chr11:66786222..66802522-chr11:66819452..66831805,83	MCF-7	breast:
8	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
9	chr11:66622645..66625708-chr11:66789822..66792440,5	MCF-7	breast:
10	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
11	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
12	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:

Variant related genes	Relation type
SYT12	TF binding region
ENSG00000173653	Chromatin interaction
ENSG00000256514	Chromatin interaction
ENSG00000252709	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000173227	Chromatin interaction
ENSG00000175505	Chromatin interaction
ENSG00000173156	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	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
4	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
5	esv1817552	chr11:66751014-66839985	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	esv3405747	chr11:66789601-66792149	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3378723	chr11:66790076-66792024	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66789200-66791200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr11:66789600-66790400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:66789600-66790400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:66789600-66790400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr11:66789600-66790400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
6	chr11:66789600-66790400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:66789600-66790400	Enhancers	Esophagus	oesophagus
8	chr11:66789600-66790400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr11:66789600-66790400	Bivalent Enhancer	Fetal Thymus	thymus
10	chr11:66789600-66790400	Enhancers	Left Ventricle	heart
11	chr11:66789600-66790400	Enhancers	Pancreas	Pancrea
12	chr11:66789600-66790400	Flanking Active TSS	Hela-S3	cervix
13	chr11:66789600-66790400	Enhancers	NHLF	lung
14	chr11:66789600-66790600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr11:66789600-66790600	Enhancers	Gastric	stomach
16	chr11:66789600-66790600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
17	chr11:66789600-66790800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
18	chr11:66789600-66791000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr11:66789600-66791600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:66789600-66792800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:66789800-66790400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
22	chr11:66789800-66790400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:66789800-66790400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:66789800-66790400	Bivalent Enhancer	Fetal Intestine Large	intestine
25	chr11:66789800-66790400	Bivalent Enhancer	Lung	lung
26	chr11:66789800-66790400	Enhancers	Ovary	ovary
27	chr11:66789800-66790600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:66789800-66790600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr11:66789800-66790600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:66789800-66790600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr11:66789800-66790600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
32	chr11:66789800-66790600	Bivalent Enhancer	Placenta	Placenta
33	chr11:66789800-66790600	Flanking Active TSS	A549	lung
34	chr11:66789800-66790800	Flanking Active TSS	NH-A	brain
35	chr11:66789800-66791000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:66789800-66791200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr11:66789800-66791400	Bivalent Enhancer	Fetal Heart	heart
38	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
40	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
41	chr11:66790000-66790400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr11:66790000-66790400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
44	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
45	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
46	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
47	chr11:66790000-66790400	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
48	chr11:66790000-66790600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:66790000-66790600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:66790000-66790600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain

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