Variant report

Variant	rs565406946
Chromosome Location	chr11:4162881-4162882
allele	-/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	SETDB1	chr11:4162748-4163027	U2OS	brain:	n/a	n/a
2	POLR2A	chr11:4160304-4163787	K562	blood:	n/a	n/a
3	POLR2A	chr11:4162183-4163769	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr11:4162747-4162905	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:4162871..4165592-chr11:4176787..4178480,2	K562	blood:
2	chr11:4161568..4163586-chr11:4168274..4170312,2	K562	blood:

Variant related genes	Relation type
RRM1-AS1	TF binding region
ENSG00000231548	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1048590	chr11:4133055-4225100	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv540911	chr11:4133055-4225100	Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1053482	chr11:4138062-4276133	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv3380413	chr11:4159374-4323846	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv8777	chr11:4159953-4387268	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1045527	chr11:4162019-4225100	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv34983	chr11:4162474-4325792	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	esv2757417	chr11:4162477-4325792	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4126600-4166600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:4148600-4164800	Weak transcription	HSMMtube	muscle
3	chr11:4148800-4165200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:4149200-4164600	Weak transcription	Gastric	stomach
5	chr11:4149600-4169400	Weak transcription	Pancreas	Pancrea
6	chr11:4153400-4165200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:4157000-4166000	Weak transcription	NH-A	brain
8	chr11:4159000-4163000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:4159000-4163400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:4159000-4164800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:4159200-4163800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr11:4159400-4163000	ZNF genes & repeats	Fetal Lung	lung
13	chr11:4159400-4163000	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr11:4159400-4163200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:4159400-4163200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr11:4159400-4163200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:4159400-4163400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr11:4159400-4163400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr11:4159400-4163400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr11:4159400-4163400	ZNF genes & repeats	Fetal Brain Female	brain
21	chr11:4159400-4163400	Strong transcription	HSMM	muscle
22	chr11:4159400-4163800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
23	chr11:4159400-4163800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:4159400-4163800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:4159400-4164800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:4159400-4165000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:4159400-4165000	Strong transcription	Fetal Thymus	thymus
28	chr11:4159400-4165200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:4159400-4168000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:4159600-4163600	Strong transcription	Osteobl	bone
31	chr11:4159800-4163000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:4160000-4163800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:4160000-4169200	Weak transcription	NHLF	lung
34	chr11:4160000-4172200	Weak transcription	NHEK	skin
35	chr11:4160400-4165000	Weak transcription	Brain Substantia Nigra	brain
36	chr11:4160400-4166000	Weak transcription	Placenta	Placenta
37	chr11:4160600-4163000	ZNF genes & repeats	Ovary	ovary
38	chr11:4160600-4163200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:4160600-4163200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:4160600-4163600	ZNF genes & repeats	Fetal Muscle Leg	muscle
41	chr11:4160600-4165800	Strong transcription	Thymus	Thymus
42	chr11:4160800-4163200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
43	chr11:4160800-4163200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr11:4161000-4163200	ZNF genes & repeats	Fetal Brain Male	brain
45	chr11:4161000-4163800	Weak transcription	Right Ventricle	heart
46	chr11:4161200-4165200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:4161200-4166800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:4161400-4166000	Weak transcription	Fetal Heart	heart
49	chr11:4161400-4166400	Weak transcription	HUVEC	blood vessel
50	chr11:4161400-4169400	Weak transcription	Brain Anterior Caudate	brain

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