Variant report

Variant	rs147943669
Chromosome Location	chr14:103541769-103541770
allele	-/CC
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:103538813..103542111-chr14:103549825..103552217,3	K562	blood:
2	chr14:103522023..103526677-chr14:103539052..103543430,10	MCF-7	breast:
3	chr14:103537897..103543787-chr14:103799072..103802497,9	MCF-7	breast:
4	chr14:103534695..103537194-chr14:103540579..103542115,2	K562	blood:
5	chr14:103540581..103543429-chr14:103599360..103601090,2	K562	blood:
6	chr14:103541417..103543680-chr14:103798244..103801088,3	MCF-7	breast:
7	chr14:103541609..103542574-chr14:103758869..103759905,6	MCF-7	breast:
8	chr14:103531098..103534720-chr14:103539867..103543696,4	MCF-7	breast:
9	chr14:103541299..103543101-chr14:103573474..103576327,2	MCF-7	breast:
10	chr14:103540748..103543589-chr14:103756933..103760919,4	MCF-7	breast:
11	chr14:103541538..103542526-chr14:103570755..103572781,5	MCF-7	breast:
12	chr14:103540920..103541787-chr5:43121273..43122216,2	Hela-S3	cervix:
13	chr14:103538201..103539823-chr14:103540540..103542204,2	K562	blood:
14	chr14:103536443..103539577-chr14:103539904..103542632,4	MCF-7	breast:
15	chr14:103521448..103525691-chr14:103536309..103543666,12	MCF-7	breast:
16	chr14:103541256..103541826-chr14:103595707..103596460,2	MCF-7	breast:
17	chr14:103541412..103542006-chr9:130477766..130478482,2	Hela-S3	cervix:
18	chr11:61554949..61555512-chr14:103541596..103542271,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000187024	Chromatin interaction
ENSG00000198752	Chromatin interaction
ENSG00000167094	Chromatin interaction
ENSG00000205436	Chromatin interaction
ENSG00000259775	Chromatin interaction
ENSG00000100664	Chromatin interaction
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042714	chr14:103085298-103860730	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1049747	chr14:103126148-103955984	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
3	nsv1042471	chr14:103159790-103760619	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv542197	chr14:103159790-103760619	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv1831121	chr14:103348177-103566113	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv832882	chr14:103436946-103609181	Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
8	nsv902264	chr14:103520762-103613192	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv1813975	chr14:103525424-103609180	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv9168	chr14:103531729-103913306	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	esv1818322	chr14:103532219-103606856	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
12	esv1797163	chr14:103541542-103602729	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103536800-103542400	Enhancers	Stomach Mucosa	stomach
2	chr14:103537000-103541800	Enhancers	Spleen	Spleen
3	chr14:103537200-103541800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:103538200-103541800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:103538800-103541800	Enhancers	Pancreas	Pancrea
6	chr14:103538800-103541800	Flanking Active TSS	A549	lung
7	chr14:103539400-103541800	Flanking Bivalent TSS/Enh	HepG2	liver
8	chr14:103540400-103542600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr14:103540600-103541800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:103540800-103542000	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr14:103541000-103541800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:103541000-103541800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr14:103541000-103541800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr14:103541000-103542000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:103541000-103542000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:103541000-103542000	Enhancers	HSMMtube	muscle
17	chr14:103541200-103541800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:103541200-103541800	Enhancers	Liver	Liver
19	chr14:103541200-103541800	Enhancers	Ovary	ovary
20	chr14:103541200-103542000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:103541200-103542000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr14:103541200-103542200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr14:103541200-103542400	Weak transcription	Fetal Lung	lung
24	chr14:103541400-103541800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr14:103541400-103541800	Bivalent Enhancer	Primary B cells from cord blood	blood
26	chr14:103541400-103541800	Flanking Active TSS	K562	blood
27	chr14:103541400-103542000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
28	chr14:103541400-103542000	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr14:103541400-103542600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
30	chr14:103541400-103542600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr14:103541400-103542600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr14:103541400-103542600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr14:103541400-103542600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr14:103541400-103542600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr14:103541400-103542600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:103541400-103542600	Active TSS	Rectal Smooth Muscle	rectum
37	chr14:103541400-103542600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr14:103541400-103542800	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr14:103541600-103541800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:103541600-103541800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:103541600-103541800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:103541600-103541800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:103541600-103541800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:103541600-103541800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
45	chr14:103541600-103541800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
46	chr14:103541600-103541800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr14:103541600-103541800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr14:103541600-103541800	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
49	chr14:103541600-103541800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
50	chr14:103541600-103541800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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