Variant report

Variant	rs3769710
Chromosome Location	chr2:99153756-99153757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3754876	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3820942	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][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	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv2840	chr2:99116934-99162190	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99114400-99154000	Weak transcription	HepG2	liver
2	chr2:99121600-99155400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:99123200-99154400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:99126200-99162000	Weak transcription	Small Intestine	intestine
5	chr2:99127000-99176800	Weak transcription	Right Atrium	heart
6	chr2:99131400-99154800	Weak transcription	Fetal Kidney	kidney
7	chr2:99131800-99154600	Weak transcription	NH-A	brain
8	chr2:99131800-99154600	Weak transcription	Osteobl	bone
9	chr2:99132400-99153800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:99132400-99154000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:99132600-99154200	Weak transcription	Brain Angular Gyrus	brain
12	chr2:99133000-99176400	Weak transcription	Psoas Muscle	Psoas
13	chr2:99134200-99156600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:99134400-99154000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:99134400-99169400	Weak transcription	NHLF	lung
16	chr2:99135400-99155600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:99135600-99154000	Weak transcription	Esophagus	oesophagus
18	chr2:99136000-99154600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:99136400-99185400	Weak transcription	Hela-S3	cervix
20	chr2:99136800-99154200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:99137000-99153800	Weak transcription	Right Ventricle	heart
22	chr2:99137600-99153800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:99137600-99153800	Weak transcription	Gastric	stomach
24	chr2:99138000-99153800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:99138000-99154000	Weak transcription	Colonic Mucosa	Colon
26	chr2:99138200-99154000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:99138200-99154000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:99138200-99154000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:99139400-99163600	Weak transcription	K562	blood
30	chr2:99139800-99155200	Weak transcription	HUVEC	blood vessel
31	chr2:99141200-99172200	Weak transcription	Stomach Mucosa	stomach
32	chr2:99142600-99154800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:99144400-99154600	Weak transcription	A549	lung
34	chr2:99144600-99154200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:99146800-99163400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:99147200-99200200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:99148000-99154000	Weak transcription	Fetal Lung	lung
38	chr2:99148200-99162600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:99148400-99153800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:99148400-99158000	Strong transcription	GM12878-XiMat	blood
41	chr2:99148400-99163400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:99148400-99211200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:99149000-99154800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr2:99149000-99163200	Strong transcription	Primary T cells from cord blood	blood
45	chr2:99149000-99163200	Strong transcription	Dnd41	blood
46	chr2:99149000-99163600	Strong transcription	Thymus	Thymus
47	chr2:99149000-99209800	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr2:99149000-99210800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr2:99149200-99210800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:99149400-99157400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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