Variant report

Variant	rs11712583
Chromosome Location	chr3:143319842-143319843
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	chr3:143313566..143315859-chr3:143319839..143322453,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13089318	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534161	0.96[CEU][hapmap];0.84[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1978913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030817	0.87[EUR][1000 genomes]
rs34973048	0.84[AFR][1000 genomes]
rs4425252	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs4839645	0.84[AFR][1000 genomes]
rs6773748	0.89[AFR][1000 genomes]
rs6779887	0.96[CEU][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6779888	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7632272	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9811274	0.84[YRI][hapmap]
rs9811842	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143297600-143320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:143297600-143339000	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:143300400-143336800	Weak transcription	Primary T cells from cord blood	blood
4	chr3:143313600-143321000	Weak transcription	Gastric	stomach
5	chr3:143316400-143320600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr3:143316400-143321200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr3:143317000-143322000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:143317400-143323200	Weak transcription	Ovary	ovary
9	chr3:143317600-143320000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr3:143317600-143320200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:143318000-143320600	Weak transcription	Fetal Kidney	kidney
12	chr3:143318000-143324000	Weak transcription	Brain Anterior Caudate	brain
13	chr3:143318400-143323800	Weak transcription	Brain Germinal Matrix	brain
14	chr3:143318600-143320400	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:143318600-143320600	Weak transcription	Fetal Lung	lung
16	chr3:143318600-143332600	Weak transcription	Brain Substantia Nigra	brain
17	chr3:143319200-143321000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr3:143319200-143321200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr3:143319400-143320000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr3:143319400-143320800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:143319400-143321000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr3:143319400-143321400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr3:143319600-143320000	Enhancers	HUVEC	blood vessel
24	chr3:143319600-143320600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr3:143319600-143320600	Enhancers	Small Intestine	intestine
26	chr3:143319600-143320800	Enhancers	Primary B cells from cord blood	blood
27	chr3:143319600-143320800	Enhancers	Primary B cells from peripheral blood	blood
28	chr3:143319600-143321000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:143319600-143321800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr3:143319600-143322200	Enhancers	HMEC	breast
31	chr3:143319800-143320000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:143319800-143320000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr3:143319800-143320000	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr3:143319800-143320200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:143319800-143320200	Active TSS	Primary hematopoietic stem cells	blood
36	chr3:143319800-143320600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr3:143319800-143320600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:143319800-143321000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr3:143319800-143321000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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