Variant report

Variant	rs55648721
Chromosome Location	chr1:120498796-120498797
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120498300..120501120-chr1:120610765..120612567,2	MCF-7	breast:
2	chr1:120445668..120448303-chr1:120496593..120499239,2	MCF-7	breast:
3	chr1:120497342..120499963-chr1:120501229..120503818,2	K562	blood:
4	chr1:120497371..120500644-chr1:120500886..120502756,3	MCF-7	breast:
5	chr1:120493088..120496075-chr1:120496488..120499271,2	K562	blood:

Variant related genes	Relation type
ENSG00000134250	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55787603	1.00[AFR][1000 genomes]
rs55954768	1.00[AFR][1000 genomes]
rs56323802	1.00[AFR][1000 genomes]
rs57257610	1.00[AFR][1000 genomes]
rs57350404	1.00[AFR][1000 genomes]
rs59233270	1.00[AFR][1000 genomes]
rs60540199	1.00[AFR][1000 genomes]
rs74115515	0.83[AFR][1000 genomes]
rs74117504	0.83[AFR][1000 genomes]
rs74117566	1.00[AFR][1000 genomes]
rs74117579	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv1816057	chr1:120469050-120697156	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv1818054	chr1:120469050-120697156	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv1844863	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	esv1850218	chr1:120469050-120697156	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv427730	chr1:120469050-120697156	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120468400-120506200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:120468400-120507400	Weak transcription	Right Ventricle	heart
3	chr1:120468600-120532800	Weak transcription	Stomach Mucosa	stomach
4	chr1:120476400-120507400	Weak transcription	Brain Angular Gyrus	brain
5	chr1:120478800-120508800	Weak transcription	A549	lung
6	chr1:120478800-120511000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:120479000-120511000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:120479600-120504000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr1:120480400-120507800	Weak transcription	Fetal Brain Female	brain
10	chr1:120480600-120503600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:120480600-120507400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:120484400-120506000	Weak transcription	Gastric	stomach
13	chr1:120484600-120505800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:120488800-120510400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:120489200-120499000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:120490000-120499000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:120490000-120500000	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:120490000-120512400	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr1:120490000-120514400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:120490000-120517600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:120490200-120512600	Strong transcription	Primary T cells from cord blood	blood
22	chr1:120490200-120512600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:120490200-120521000	Strong transcription	Primary B cells from cord blood	blood
24	chr1:120490400-120500800	Strong transcription	Adipose Nuclei	Adipose
25	chr1:120490400-120502600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:120490400-120512600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:120490800-120499800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr1:120490800-120501400	Strong transcription	Fetal Thymus	thymus
29	chr1:120490800-120502600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr1:120490800-120502800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:120490800-120515000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:120491200-120498800	Strong transcription	HMEC	breast
33	chr1:120491200-120499800	Weak transcription	HepG2	liver
34	chr1:120491200-120510800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:120491200-120538800	Weak transcription	Fetal Brain Male	brain
36	chr1:120491400-120500000	Strong transcription	NH-A	brain
37	chr1:120491600-120499000	Weak transcription	Fetal Heart	heart
38	chr1:120491800-120498800	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr1:120491800-120499600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:120491800-120499600	Strong transcription	Osteobl	bone
41	chr1:120492000-120500400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:120492000-120502200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:120492000-120502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:120493400-120505800	Weak transcription	Colonic Mucosa	Colon
45	chr1:120493400-120507800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr1:120493600-120512200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:120494200-120503600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:120494200-120506200	Weak transcription	Fetal Intestine Small	intestine
49	chr1:120494600-120502600	Weak transcription	HUVEC	blood vessel
50	chr1:120495200-120500000	Strong transcription	NHDF-Ad	bronchial

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