Variant report

Variant	rs62136788
Chromosome Location	chr2:47116474-47116475
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46691412..46692513-chr2:47115934..47116752,3	MCF-7	breast:
2	chr2:46691358..46692227-chr2:47115825..47116785,3	K562	blood:
3	chr2:47115779..47117339-chr2:47120476..47123215,2	K562	blood:
4	chr2:46859576..46860085-chr2:47115905..47116595,2	MCF-7	breast:
5	chr2:47114369..47117073-chr2:47127351..47131177,3	K562	blood:
6	chr2:46877823..46878327-chr2:47115872..47116822,2	K562	blood:
7	chr2:47114899..47116611-chr2:47118256..47121288,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10190862	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10190882	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10197474	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13394007	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13410702	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13415655	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13415771	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13419072	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17035813	0.81[EUR][1000 genomes]
rs17035823	0.81[EUR][1000 genomes]
rs17035859	0.94[EUR][1000 genomes]
rs17035867	0.94[EUR][1000 genomes]
rs17035884	0.94[EUR][1000 genomes]
rs2084192	0.88[EUR][1000 genomes]
rs55872217	0.94[EUR][1000 genomes]
rs56213467	0.94[EUR][1000 genomes]
rs58589709	0.94[EUR][1000 genomes]
rs60194846	0.88[EUR][1000 genomes]
rs62136818	0.94[EUR][1000 genomes]
rs62136819	0.94[EUR][1000 genomes]
rs62136820	0.94[EUR][1000 genomes]
rs62136822	0.94[EUR][1000 genomes]
rs6544938	0.84[EUR][1000 genomes]
rs6714269	0.81[EUR][1000 genomes]
rs6715391	0.94[EUR][1000 genomes]
rs6715620	0.94[EUR][1000 genomes]
rs6729120	0.94[EUR][1000 genomes]
rs6743994	0.94[EUR][1000 genomes]
rs6745578	0.89[EUR][1000 genomes]
rs71423929	0.88[EUR][1000 genomes]
rs720827	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7340475	0.94[EUR][1000 genomes]
rs73926966	0.94[EUR][1000 genomes]
rs754411	0.94[EUR][1000 genomes]
rs7575172	0.88[EUR][1000 genomes]
rs7596198	0.94[EUR][1000 genomes]
rs8861	0.94[EUR][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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	esv3345303	chr2:47116425-47116781	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47106400-47131000	Weak transcription	Esophagus	oesophagus
2	chr2:47107400-47117000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:47109400-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:47109400-47125200	Weak transcription	Spleen	Spleen
5	chr2:47109800-47116600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:47112200-47116600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:47113000-47116600	Weak transcription	Right Atrium	heart
8	chr2:47113200-47116600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr2:47113200-47116600	Enhancers	Osteobl	bone
10	chr2:47113200-47131200	Weak transcription	Aorta	Aorta
11	chr2:47115200-47116800	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr2:47115600-47116600	Enhancers	Fetal Muscle Trunk	muscle
13	chr2:47115800-47116600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr2:47115800-47116600	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:47115800-47116600	Enhancers	Brain Substantia Nigra	brain
16	chr2:47115800-47116600	Enhancers	Fetal Muscle Leg	muscle
17	chr2:47116000-47116600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:47116000-47116600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:47116000-47116600	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:47116000-47116600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr2:47116000-47116600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr2:47116000-47116600	Enhancers	HUVEC	blood vessel
23	chr2:47116000-47133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:47116200-47116600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr2:47116200-47116600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:47116200-47116600	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:47116200-47116600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:47116200-47116600	Enhancers	Adipose Nuclei	Adipose
29	chr2:47116200-47116600	Active TSS	Brain Angular Gyrus	brain
30	chr2:47116200-47116600	Active TSS	Brain Anterior Caudate	brain
31	chr2:47116200-47116600	Active TSS	Brain Cingulate Gyrus	brain
32	chr2:47116200-47116600	Active TSS	Brain Hippocampus Middle	brain
33	chr2:47116200-47116600	Active TSS	Placenta	Placenta
34	chr2:47116200-47116600	Enhancers	Fetal Thymus	thymus
35	chr2:47116200-47116600	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:47116200-47116600	Active TSS	A549	lung
37	chr2:47116200-47116600	Active TSS	Hela-S3	cervix
38	chr2:47116200-47116600	Flanking Active TSS	HepG2	liver
39	chr2:47116200-47116600	Active TSS	NHEK	skin
40	chr2:47116200-47116800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:47116200-47119200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:47116200-47119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr2:47116200-47119200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:47116200-47119200	Weak transcription	Left Ventricle	heart
45	chr2:47116200-47120600	Weak transcription	NHDF-Ad	bronchial
46	chr2:47116200-47121600	Weak transcription	Fetal Brain Male	brain
47	chr2:47116200-47127400	Weak transcription	Fetal Stomach	stomach
48	chr2:47116200-47128200	Weak transcription	HSMM	muscle
49	chr2:47116200-47128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr2:47116200-47128400	Weak transcription	NH-A	brain

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