Variant report

Variant	rs568909212
Chromosome Location	chr11:66235981-66235982
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66190055..66192720-chr11:66235255..66236874,2	K562	blood:
2	chr11:66235227..66237987-chr11:66260877..66263080,2	K562	blood:
3	chr11:66234037..66235984-chr11:66277120..66279562,2	MCF-7	breast:
4	chr11:66234759..66237082-chr11:66443933..66445576,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174483	Chromatin interaction
ENSG00000173914	Chromatin interaction
ENSG00000174576	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv468601	chr11:66234023-66296114	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv555224	chr11:66234023-66296114	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv522277	chr11:66234023-66493825	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66235200-66236000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr11:66235200-66236000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:66235200-66236000	Enhancers	Pancreas	Pancrea
4	chr11:66235200-66236000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr11:66235200-66236200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:66235200-66236600	Enhancers	Placenta	Placenta
7	chr11:66235200-66237200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr11:66235200-66238200	Weak transcription	Aorta	Aorta
9	chr11:66235200-66238200	Enhancers	Spleen	Spleen
10	chr11:66235200-66239800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:66235200-66245000	Weak transcription	HSMM	muscle
12	chr11:66235200-66246200	Weak transcription	Fetal Kidney	kidney
13	chr11:66235400-66236000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr11:66235400-66236000	Enhancers	Primary T cells from cord blood	blood
15	chr11:66235400-66236000	Enhancers	Primary hematopoietic stem cells	blood
16	chr11:66235400-66236000	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr11:66235400-66236000	Enhancers	Fetal Brain Male	brain
18	chr11:66235400-66236000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr11:66235400-66236000	Weak transcription	NHEK	skin
20	chr11:66235400-66236200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:66235400-66236200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:66235400-66236200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:66235400-66236200	Enhancers	Duodenum Mucosa	Duodenum
24	chr11:66235400-66236400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:66235400-66237000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:66235400-66237000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:66235400-66237000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:66235400-66238000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr11:66235400-66239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:66235400-66239800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:66235400-66246400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr11:66235400-66246600	Weak transcription	Fetal Heart	heart
33	chr11:66235400-66246600	Weak transcription	Psoas Muscle	Psoas
34	chr11:66235400-66246600	Weak transcription	HSMMtube	muscle
35	chr11:66235600-66236000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:66235600-66236000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:66235600-66236000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:66235600-66236000	Enhancers	Adipose Nuclei	Adipose
39	chr11:66235600-66236000	Enhancers	Brain Angular Gyrus	brain
40	chr11:66235600-66236000	Enhancers	Stomach Smooth Muscle	stomach
41	chr11:66235600-66236200	Enhancers	Brain Anterior Caudate	brain
42	chr11:66235600-66236200	Enhancers	Brain Cingulate Gyrus	brain
43	chr11:66235600-66236200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:66235600-66236200	Enhancers	Brain Substantia Nigra	brain
45	chr11:66235600-66236200	Weak transcription	Fetal Intestine Small	intestine
46	chr11:66235600-66236400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr11:66235600-66236400	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:66235600-66236400	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr11:66235600-66236400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr11:66235600-66236400	Enhancers	Pancreatic Islets	Pancreatic Islet

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