Variant report

Variant	rs4680219
Chromosome Location	chr3:155634347-155634348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:155634121..155636961-chr3:155639455..155641625,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10804773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10804774	0.95[ASN][1000 genomes]
rs10936020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1131925	0.86[ASN][1000 genomes]
rs11714133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13059611	0.87[ASN][1000 genomes]
rs13091683	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13096499	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2054878	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2063903	0.96[ASN][1000 genomes]
rs34337666	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35321137	0.95[ASN][1000 genomes]
rs35472369	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs358703	0.82[AMR][1000 genomes]
rs3772115	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3772116	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821365	0.99[ASN][1000 genomes]
rs4680223	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55662848	0.81[EUR][1000 genomes]
rs6441028	0.99[ASN][1000 genomes]
rs66509404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6763830	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6799267	0.93[ASN][1000 genomes]
rs6809229	0.83[AFR][1000 genomes]
rs7619976	0.97[ASN][1000 genomes]
rs7633168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7643630	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7651038	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7652005	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877680	chr3:155438022-155723064	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753744	chr3:155487298-155707298	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	31 gene(s)	inside rSNPs	diseases
3	nsv877681	chr3:155535670-155654017	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:155590200-155643000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:155590200-155667400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:155603800-155657800	Weak transcription	Esophagus	oesophagus
4	chr3:155604400-155658600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:155607200-155656800	Weak transcription	Small Intestine	intestine
6	chr3:155607400-155669000	Weak transcription	Pancreas	Pancrea
7	chr3:155608600-155646400	Strong transcription	Dnd41	blood
8	chr3:155608800-155654800	Weak transcription	Aorta	Aorta
9	chr3:155609200-155657200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:155609600-155652000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:155610800-155638200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr3:155610800-155646200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:155610800-155646200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:155611000-155646200	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr3:155611000-155646200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:155611200-155646200	Strong transcription	Fetal Thymus	thymus
17	chr3:155612400-155648600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:155612800-155646000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:155614400-155635800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr3:155619800-155635800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:155620600-155636200	Strong transcription	Fetal Intestine Large	intestine
22	chr3:155621800-155635800	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr3:155621800-155641800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:155623000-155646200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:155623800-155636200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:155623800-155637800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:155624200-155635400	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr3:155624400-155635600	Strong transcription	Fetal Muscle Leg	muscle
29	chr3:155624400-155646200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr3:155624600-155634600	Strong transcription	Primary hematopoietic stem cells	blood
31	chr3:155626200-155646200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr3:155626400-155645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr3:155626800-155635400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:155626800-155646200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr3:155627000-155646200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr3:155627400-155636000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:155627400-155636200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:155627400-155644200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr3:155627800-155635400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:155628200-155638200	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:155628200-155643200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:155628400-155635800	Strong transcription	Fetal Brain Female	brain
43	chr3:155628600-155636800	Strong transcription	Placenta	Placenta
44	chr3:155628600-155638200	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr3:155628800-155635400	Strong transcription	Primary T cells from cord blood	blood
46	chr3:155628800-155643000	Weak transcription	NHLF	lung
47	chr3:155630200-155636200	Strong transcription	Fetal Stomach	stomach
48	chr3:155630600-155635800	Strong transcription	Lung	lung
49	chr3:155630800-155635600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr3:155631000-155635400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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