Variant report

Variant	rs56727798
Chromosome Location	chr5:95144994-95144995
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95140024..95141907-chr5:95144179..95145770,2	MCF-7	breast:
2	chr5:95097577..95099971-chr5:95142843..95145150,2	K562	blood:
3	chr1:29352126..29352937-chr5:95144638..95145200,2	NB4	blood:
4	chr5:95144281..95145870-chr5:95178022..95180919,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10041927	1.00[AMR][1000 genomes]
rs10051654	1.00[AMR][1000 genomes]
rs10071673	1.00[AMR][1000 genomes]
rs10076138	1.00[AMR][1000 genomes]
rs10077822	1.00[AMR][1000 genomes]
rs10476543	1.00[AMR][1000 genomes]
rs17085065	1.00[AMR][1000 genomes]
rs17085067	1.00[AMR][1000 genomes]
rs17085087	1.00[AMR][1000 genomes]
rs17085092	1.00[AMR][1000 genomes]
rs17085131	1.00[AMR][1000 genomes]
rs17085133	1.00[AMR][1000 genomes]
rs17085143	1.00[AMR][1000 genomes]
rs17085324	1.00[AMR][1000 genomes]
rs17085331	1.00[AMR][1000 genomes]
rs28469700	1.00[AMR][1000 genomes]
rs28927968	1.00[AMR][1000 genomes]
rs28927970	1.00[AMR][1000 genomes]
rs29000874	1.00[AMR][1000 genomes]
rs29000875	1.00[AMR][1000 genomes]
rs57696954	1.00[AMR][1000 genomes]
rs58023885	1.00[AMR][1000 genomes]
rs58796894	1.00[AMR][1000 genomes]
rs889223	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv462255	chr5:95142817-95168155	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv598961	chr5:95142817-95168155	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv882389	chr5:95144952-95173887	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
2	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
3	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
4	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
6	chr5:95130000-95145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr5:95130000-95145000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:95130000-95157400	Weak transcription	Ovary	ovary
9	chr5:95130400-95146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:95133600-95147800	Weak transcription	K562	blood
11	chr5:95139600-95145400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:95139800-95154200	Weak transcription	Pancreas	Pancrea
13	chr5:95141200-95145000	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:95141400-95145400	Weak transcription	HepG2	liver
15	chr5:95142800-95148000	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr5:95143000-95148600	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr5:95143200-95145600	Enhancers	Fetal Muscle Leg	muscle
18	chr5:95143200-95147600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:95143200-95148400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:95143200-95153600	Genic enhancers	Fetal Thymus	thymus
21	chr5:95143400-95148000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:95143600-95146000	Genic enhancers	Fetal Intestine Small	intestine
23	chr5:95143600-95146600	Enhancers	Fetal Stomach	stomach
24	chr5:95143600-95146800	Enhancers	Colonic Mucosa	Colon
25	chr5:95143600-95147000	Enhancers	Small Intestine	intestine
26	chr5:95143600-95147800	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:95143800-95145000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:95143800-95145000	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr5:95143800-95145000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr5:95143800-95145600	Genic enhancers	HSMM	muscle
31	chr5:95143800-95145800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr5:95143800-95145800	Enhancers	Brain Anterior Caudate	brain
33	chr5:95143800-95146200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr5:95143800-95146200	Enhancers	A549	lung
35	chr5:95143800-95146600	Enhancers	Placenta	Placenta
36	chr5:95143800-95146800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:95143800-95147200	Enhancers	Stomach Mucosa	stomach
38	chr5:95143800-95147800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:95143800-95147800	Enhancers	Fetal Intestine Large	intestine
40	chr5:95143800-95148400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr5:95143800-95149600	Enhancers	Fetal Lung	lung
42	chr5:95144000-95145200	Enhancers	Brain Substantia Nigra	brain
43	chr5:95144000-95145600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr5:95144000-95145600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr5:95144000-95145600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr5:95144000-95145600	Enhancers	NHEK	skin
47	chr5:95144000-95146200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:95144000-95146600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:95144000-95146800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr5:95144200-95145000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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