Variant report

Variant	rs1783537
Chromosome Location	chr11:73969751-73969752
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	chr11:73962370..73964549-chr11:73967148..73969915,2	MCF-7	breast:
2	chr11:73969455..73971049-chr11:73973741..73975451,2	K562	blood:

Variant related genes	Relation type
ENSG00000206913	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10898954	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1290193	0.81[ASN][1000 genomes]
rs1614299	0.81[EUR][1000 genomes]
rs1615115	0.81[EUR][1000 genomes]
rs1726744	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs1726746	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1726751	0.95[CEU][hapmap]
rs1726752	0.81[EUR][1000 genomes]
rs1790381	0.81[EUR][1000 genomes]
rs1790398	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1790399	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1790404	0.95[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs2848559	0.85[CHB][hapmap];0.80[ASN][1000 genomes]
rs3018184	0.83[AMR][1000 genomes]
rs4453265	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap]
rs474280	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs474835	0.95[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs486577	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs490539	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs4944036	0.91[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]
rs500608	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs556134	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs575096	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs578057	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs6592545	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap]
rs6592551	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs826033	0.87[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs826039	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs826056	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs826061	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs826062	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap]

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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1783537	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73965000-73970200	Weak transcription	Small Intestine	intestine
2	chr11:73965800-73970000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr11:73966000-73971800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:73966000-73972000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:73966200-73970600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:73966200-73971400	Weak transcription	NHEK	skin
7	chr11:73966200-73980000	Weak transcription	Gastric	stomach
8	chr11:73966400-73979200	Weak transcription	Primary T cells from cord blood	blood
9	chr11:73966600-73969800	Enhancers	Colon Smooth Muscle	Colon
10	chr11:73966600-73970600	Weak transcription	Thymus	Thymus
11	chr11:73966600-73972000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:73966800-73971000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr11:73967000-73971800	Weak transcription	Liver	Liver
14	chr11:73967200-73970000	Enhancers	Hela-S3	cervix
15	chr11:73967600-73970600	Weak transcription	Fetal Thymus	thymus
16	chr11:73967800-73970200	Weak transcription	Fetal Intestine Large	intestine
17	chr11:73967800-73970600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:73967800-73970800	Weak transcription	HMEC	breast
19	chr11:73968000-73971000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:73968000-73971200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:73968000-73979000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:73968200-73973600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:73968400-73969800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:73968400-73969800	Enhancers	Fetal Stomach	stomach
25	chr11:73968400-73970000	Enhancers	Fetal Lung	lung
26	chr11:73968400-73970200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:73968400-73971200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr11:73968400-73971400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:73968600-73969800	Enhancers	Stomach Smooth Muscle	stomach
30	chr11:73968600-73969800	Enhancers	Osteobl	bone
31	chr11:73968600-73970000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:73968600-73970000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:73968600-73970000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr11:73968800-73969800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:73968800-73969800	Enhancers	Fetal Brain Male	brain
36	chr11:73968800-73969800	Enhancers	HSMM	muscle
37	chr11:73968800-73970000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr11:73968800-73970000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:73968800-73970200	Enhancers	Psoas Muscle	Psoas
40	chr11:73969000-73969800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:73969000-73969800	Enhancers	Ovary	ovary
42	chr11:73969200-73969800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:73969200-73969800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr11:73969200-73969800	Enhancers	Rectal Smooth Muscle	rectum
45	chr11:73969200-73969800	Enhancers	NHLF	lung
46	chr11:73969400-73987600	Weak transcription	NH-A	brain
47	chr11:73969600-73971400	Genic enhancers	A549	lung
48	chr11:73969600-73972400	Enhancers	Placenta	Placenta
49	chr11:73969600-73974200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links