Variant report

Variant	rs542344252
Chromosome Location	chr11:57408850-57408851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:57405566..57408530-chr11:57408605..57410550,2	MCF-7	breast:
2	chr11:57335324..57336323-chr11:57408291..57409695,14	MCF-7	breast:
3	chr11:57407680..57409367-chr11:57422916..57424875,2	MCF-7	breast:
4	chr11:57334539..57338384-chr11:57406664..57411574,5	MCF-7	breast:
5	chr11:57224546..57225432-chr11:57408726..57409938,3	K562	blood:
6	chr11:57112773..57113316-chr11:57408689..57409193,2	K562	blood:
7	chr11:57335355..57336298-chr11:57408531..57409635,7	K562	blood:

Variant related genes	Relation type
ENSG00000254602	Chromatin interaction
ENSG00000156587	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57403000-57412200	Weak transcription	Hela-S3	cervix
2	chr11:57406400-57409000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:57406600-57409000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:57406600-57409000	Enhancers	K562	blood
5	chr11:57406800-57409600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:57407000-57409200	Enhancers	Liver	Liver
7	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
8	chr11:57407200-57409000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
9	chr11:57407200-57409400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
10	chr11:57407200-57409400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
11	chr11:57407200-57412200	Weak transcription	Ovary	ovary
12	chr11:57407400-57409000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:57407400-57412600	Weak transcription	GM12878-XiMat	blood
14	chr11:57407600-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57407600-57409000	Enhancers	Brain Anterior Caudate	brain
16	chr11:57407600-57409000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:57407600-57409200	Enhancers	Primary T cells from cord blood	blood
18	chr11:57407600-57409200	Weak transcription	Colonic Mucosa	Colon
19	chr11:57407600-57409200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:57407600-57412200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:57407600-57412200	Weak transcription	Spleen	Spleen
23	chr11:57407600-57413000	Weak transcription	Right Ventricle	heart
24	chr11:57407600-57413200	Weak transcription	Esophagus	oesophagus
25	chr11:57407800-57409000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr11:57407800-57409000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:57407800-57409000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:57407800-57409000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:57407800-57409000	Enhancers	A549	lung
30	chr11:57407800-57409200	Enhancers	Fetal Intestine Large	intestine
31	chr11:57407800-57409200	Genic enhancers	Fetal Stomach	stomach
32	chr11:57407800-57409400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
33	chr11:57407800-57409400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:57407800-57409600	Enhancers	Fetal Heart	heart
35	chr11:57407800-57409600	Genic enhancers	Fetal Lung	lung
36	chr11:57407800-57409600	Enhancers	Dnd41	blood
37	chr11:57407800-57412200	Weak transcription	Pancreas	Pancrea
38	chr11:57408000-57409000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
39	chr11:57408000-57409000	Genic enhancers	Fetal Intestine Small	intestine
40	chr11:57408000-57409000	Enhancers	HSMMtube	muscle
41	chr11:57408000-57409000	Enhancers	HUVEC	blood vessel
42	chr11:57408000-57409200	Genic enhancers	Osteobl	bone
43	chr11:57408000-57409600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:57408000-57412000	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:57408000-57412200	Weak transcription	Lung	lung
46	chr11:57408200-57409000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
47	chr11:57408200-57409000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
48	chr11:57408200-57409000	Transcr. at gene 5' and 3'	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:57408200-57409000	Enhancers	Brain Angular Gyrus	brain
50	chr11:57408200-57409000	Genic enhancers	Fetal Muscle Trunk	muscle

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