Variant report

Variant	rs111533813
Chromosome Location	chr1:228134494-228134495
allele	C/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227668984..227669861-chr1:228133992..228134634,2	MCF-7	breast:
2	chr1:227916221..227923035-chr1:228131852..228141791,18	MCF-7	breast:
3	chr1:227917409..227918706-chr1:228134035..228134836,3	MCF-7	breast:
4	chr1:227948959..227950844-chr1:228133923..228134938,14	MCF-7	breast:
5	chr1:228128193..228132003-chr1:228132864..228136285,5	K562	blood:
6	chr1:227668674..227670909-chr1:228132996..228135625,2	K562	blood:
7	chr1:227668498..227670026-chr1:228133976..228134959,9	MCF-7	breast:
8	chr1:228129106..228132233-chr1:228133265..228135585,4	MCF-7	breast:
9	chr1:228089488..228090174-chr1:228134137..228134999,2	MCF-7	breast:
10	chr1:227950129..227951118-chr1:228133705..228134664,5	MCF-7	breast:
11	chr1:227669109..227669887-chr1:228134058..228134849,3	K562	blood:
12	chr1:227949835..227950876-chr1:228133993..228134931,7	K562	blood:
13	chr1:227922958..227924817-chr1:228133058..228135872,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143740	Chromatin interaction
ENSG00000264483	Chromatin interaction
ENSG00000237193	Chromatin interaction
ENSG00000081692	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
9	nsv873251	chr1:228051234-228160911	Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	esv3344015	chr1:228134354-228137302	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228132800-228134600	Enhancers	Stomach Mucosa	stomach
2	chr1:228133000-228134600	Enhancers	Lung	lung
3	chr1:228133000-228134800	Bivalent Enhancer	Placenta	Placenta
4	chr1:228133000-228135000	Flanking Active TSS	HMEC	breast
5	chr1:228133400-228134600	Bivalent Enhancer	Fetal Thymus	thymus
6	chr1:228133600-228134600	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:228133600-228134800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:228133600-228134800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:228133600-228134800	Enhancers	Fetal Brain Male	brain
10	chr1:228133600-228134800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
11	chr1:228133600-228135000	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
12	chr1:228133600-228135400	Flanking Active TSS	Colonic Mucosa	Colon
13	chr1:228133800-228134600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr1:228133800-228134600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:228133800-228134600	Flanking Active TSS	Brain Hippocampus Middle	brain
16	chr1:228133800-228134600	Flanking Active TSS	NHDF-Ad	bronchial
17	chr1:228133800-228135000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr1:228133800-228135200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:228133800-228135200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:228133800-228135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:228133800-228135400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:228133800-228136400	Active TSS	NHLF	lung
23	chr1:228134000-228134600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:228134000-228134600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
25	chr1:228134000-228134600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:228134000-228134600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:228134000-228134600	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
28	chr1:228134000-228134600	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr1:228134000-228134600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
30	chr1:228134000-228134800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr1:228134000-228135000	Bivalent Enhancer	Osteobl	bone
32	chr1:228134000-228135400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:228134000-228136000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:228134000-228136000	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr1:228134000-228136200	Active TSS	H9 Cell Line	embryonic stem cell
36	chr1:228134000-228136400	Active TSS	Psoas Muscle	Psoas
37	chr1:228134200-228134600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr1:228134200-228134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:228134200-228134600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:228134200-228134600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:228134200-228134600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr1:228134200-228134600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:228134200-228134600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:228134200-228134600	Enhancers	Primary B cells from cord blood	blood
45	chr1:228134200-228134600	Enhancers	Brain Substantia Nigra	brain
46	chr1:228134200-228134600	Enhancers	Fetal Lung	lung
47	chr1:228134200-228134600	Active TSS	Pancreas	Pancrea
48	chr1:228134200-228134600	Flanking Active TSS	Spleen	Spleen
49	chr1:228134200-228134800	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr1:228134200-228134800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain

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