Variant report

Variant	rs146535978
Chromosome Location	chr11:57243526-57243527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57243051..57244044-chr3:51976563..51977136,2	Hela-S3	cervix:
2	chr11:57241042..57244897-chr11:57245318..57249265,7	K562	blood:
3	chr11:57243239..57245827-chr11:57433789..57436480,2	K562	blood:
4	chr11:57238280..57240844-chr11:57241461..57244057,2	K562	blood:
5	chr11:57243206..57244051-chr15:66796884..66797509,2	Hela-S3	cervix:
6	chr11:57227567..57231399-chr11:57243101..57246842,4	MCF-7	breast:
7	chr11:57240991..57243890-chr11:57248051..57250627,2	MCF-7	breast:
8	chr11:57242576..57245304-chr11:57423792..57425526,2	MCF-7	breast:
9	chr11:57227974..57230199-chr11:57243067..57246052,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000174444	Chromatin interaction
ENSG00000041880	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000174442	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000156599	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	esv3404360	chr11:57242601-57245149	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57240400-57244000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:57240800-57243600	Bivalent Enhancer	Fetal Stomach	stomach
3	chr11:57241400-57243600	Enhancers	Primary B cells from peripheral blood	blood
4	chr11:57241400-57243600	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr11:57241600-57243600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
6	chr11:57241600-57243600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:57241800-57243600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:57242000-57244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr11:57242000-57244800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:57242200-57243600	Enhancers	Primary hematopoietic stem cells	blood
11	chr11:57242200-57244400	Bivalent Enhancer	Fetal Brain Male	brain
12	chr11:57242200-57246400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:57242400-57243800	Flanking Active TSS	Hela-S3	cervix
14	chr11:57242400-57244200	Bivalent Enhancer	Fetal Thymus	thymus
15	chr11:57242600-57243600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:57242600-57243600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:57242600-57243600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:57242600-57243600	Bivalent Enhancer	Thymus	Thymus
19	chr11:57242600-57244600	Flanking Active TSS	GM12878-XiMat	blood
20	chr11:57242800-57243600	Bivalent Enhancer	NHEK	skin
21	chr11:57242800-57243800	Bivalent Enhancer	HUVEC	blood vessel
22	chr11:57242800-57245200	Weak transcription	HepG2	liver
23	chr11:57242800-57247600	Weak transcription	K562	blood
24	chr11:57243000-57243600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:57243000-57243600	Enhancers	Liver	Liver
26	chr11:57243200-57243600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
27	chr11:57243200-57243600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:57243200-57243600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:57243200-57243600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr11:57243200-57243600	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr11:57243200-57243600	Bivalent Enhancer	Colon Smooth Muscle	Colon
32	chr11:57243200-57243600	Enhancers	Esophagus	oesophagus
33	chr11:57243200-57243600	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr11:57243200-57243600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr11:57243200-57243600	Enhancers	Left Ventricle	heart
36	chr11:57243200-57243600	Enhancers	Psoas Muscle	Psoas
37	chr11:57243200-57243800	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr11:57243200-57243800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:57243200-57244600	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:57243200-57244600	Bivalent Enhancer	Fetal Heart	heart
41	chr11:57243200-57244600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
42	chr11:57243200-57244800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr11:57243200-57244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:57243400-57243600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
45	chr11:57243400-57243600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr11:57243400-57243600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
47	chr11:57243400-57243600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
48	chr11:57243400-57243600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
49	chr11:57243400-57243600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr11:57243400-57243600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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