Variant report

Variant	rs575058128
Chromosome Location	chr11:66791361-66791362
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66790945-66791408	H1-neurons	neurons:	n/a	n/a
2	MAX	chr11:66789735-66791655	A549	lung:	n/a	chr11:66790997-66791007
3	MAX	chr11:66789704-66791377	Hela-S3	cervix:	n/a	chr11:66790997-66791007
4	MAX	chr11:66790851-66791388	HepG2	liver:	n/a	chr11:66790997-66791007
5	MYC	chr11:66790945-66791385	MCF-7	breast:	n/a	chr11:66790997-66791007
6	MAZ	chr11:66791125-66791415	Hela-S3	cervix:	n/a	n/a
7	GABPA	chr11:66790752-66791417	H1-hESC	embryonic stem cell:	n/a	chr11:66791203-66791212
8	POLR2A	chr11:66790464-66791458	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr11:66789540-66791922	MCF-7	breast:	n/a	n/a
10	MAX	chr11:66790915-66791533	MCF-7	breast:	n/a	chr11:66790997-66791007
11	MAX	chr11:66790326-66791517	A549	lung:	n/a	chr11:66790997-66791007
12	SUZ12	chr11:66790239-66792182	NT2-D1	testis:	n/a	n/a
13	E2F6	chr11:66790885-66791405	A549	lung:	n/a	n/a
14	MAX	chr11:66790445-66791507	H1-hESC	embryonic stem cell:	n/a	chr11:66790997-66791007
15	MAX	chr11:66789550-66791507	MCF-7	breast:	n/a	chr11:66790997-66791007
16	MXI1	chr11:66790915-66791567	IMR90	lung:	n/a	n/a
17	E2F6	chr11:66790946-66791483	A549	lung:	n/a	n/a
18	CTCF	chr11:66791220-66791370	HCPEpiC	choroid plexus:	n/a	n/a
19	MAX	chr11:66790916-66791531	H1-hESC	embryonic stem cell:	n/a	chr11:66790997-66791007

No data

(count:14 , 50 per page) page: 1

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	chr11:66510482..66513147-chr11:66790966..66792774,2	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	chr11:66790564..66792990-chr17:56707751..56709327,2	MCF-7	breast:
11	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
12	chr11:66790383..66792489-chr11:67119405..67122102,2	MCF-7	breast:
13	chr11:66772630..66777861-chr11:66788171..66792271,6	MCF-7	breast:
14	chr11:66789739..66792605-chr11:66795396..66798254,2	K562	blood:

No data

Variant related genes	Relation type
SYT12	TF binding region
ENSG00000173227	Chromatin interaction
ENSG00000173653	Chromatin interaction
ENSG00000173621	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000252709	Chromatin interaction
ENSG00000173715	Chromatin interaction
ENSG00000212195	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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66789600-66791600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:66789600-66792800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr11:66789800-66791400	Bivalent Enhancer	Fetal Heart	heart
4	chr11:66790000-66791400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr11:66790000-66791400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:66790000-66791400	Active TSS	Aorta	Aorta
7	chr11:66790000-66793200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr11:66790200-66791400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
9	chr11:66790200-66791400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:66790200-66791400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:66790200-66791400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
12	chr11:66790200-66791400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr11:66790200-66791600	Flanking Active TSS	HMEC	breast
14	chr11:66790200-66792200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:66790400-66791400	Bivalent/Poised TSS	Fetal Brain Female	brain
16	chr11:66790400-66791400	Flanking Active TSS	Pancreas	Pancrea
17	chr11:66790400-66791400	Active TSS	Psoas Muscle	Psoas
18	chr11:66790400-66791400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr11:66790400-66791600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr11:66790400-66791600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr11:66790400-66792000	Active TSS	HSMMtube	muscle
22	chr11:66790400-66792200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
23	chr11:66790400-66792600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr11:66790600-66791400	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:66790600-66791400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:66790600-66791400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
27	chr11:66790600-66791400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:66790600-66791400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
29	chr11:66790600-66792200	Active TSS	Brain Angular Gyrus	brain
30	chr11:66790800-66791400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:66790800-66791600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
32	chr11:66790800-66792000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
33	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:66791000-66791400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:66791000-66791400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
42	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:66791000-66791400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:66791000-66791400	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr11:66791000-66791400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
50	chr11:66791000-66791400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum

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