Variant report

Variant	rs57695730
Chromosome Location	chr3:119679400-119679401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1154595	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12630592	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13321783	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1546753	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1719890	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1719891	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1719894	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17204878	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1732168	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1732170	0.90[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17810676	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1903765	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2126583	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2319398	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2319399	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2472682	0.84[AMR][1000 genomes]
rs28536662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3107669	0.88[ASN][1000 genomes]
rs334533	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs334553	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs334563	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs334564	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3732359	0.82[ASN][1000 genomes]
rs3732360	0.84[ASN][1000 genomes]
rs3732361	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4261913	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4491945	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4687890	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687892	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4687893	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58605236	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438552	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6438553	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6781942	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6782799	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6784598	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6785049	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6792572	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6795653	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6796420	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6800622	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6805251	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6808975	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7611736	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7641045	0.90[ASN][1000 genomes]
rs7643875	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7644234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9813864	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866394	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9873477	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9878473	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9879295	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949589	chr3:119560606-120175917	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv829696	chr3:119567659-119711405	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1001476	chr3:119575386-120075417	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv536704	chr3:119575386-120075417	Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119611400-119682200	Weak transcription	HSMMtube	muscle
2	chr3:119630800-119697400	Weak transcription	Thymus	Thymus
3	chr3:119631000-119717000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:119641000-119681600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:119641000-119681600	Weak transcription	Fetal Intestine Small	intestine
6	chr3:119641000-119694400	Weak transcription	Fetal Lung	lung
7	chr3:119641200-119681200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr3:119656400-119680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:119656400-119681200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr3:119656400-119700000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:119656600-119718400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:119658400-119688400	Weak transcription	NHEK	skin
13	chr3:119658400-119688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:119662000-119684800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:119662400-119700400	Weak transcription	Fetal Intestine Large	intestine
16	chr3:119663600-119681200	Weak transcription	Primary T cells from cord blood	blood
17	chr3:119664000-119695000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr3:119664600-119700200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:119664600-119702400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr3:119665800-119697400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:119665800-119716800	Weak transcription	HSMM	muscle
22	chr3:119666000-119679800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:119666000-119703000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr3:119666200-119680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:119666200-119680600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:119666200-119687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:119666200-119688200	Weak transcription	HMEC	breast
28	chr3:119666200-119700200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:119666200-119700400	Weak transcription	Fetal Thymus	thymus
30	chr3:119666400-119681200	Weak transcription	Dnd41	blood
31	chr3:119666400-119681200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr3:119666400-119681600	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr3:119666400-119688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr3:119667200-119688600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr3:119667800-119688000	Weak transcription	Pancreas	Pancrea
36	chr3:119670400-119680000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:119670800-119687400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:119671200-119679600	Weak transcription	Fetal Kidney	kidney
39	chr3:119671200-119681600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr3:119674400-119688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:119675200-119688400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr3:119675600-119697400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:119677800-119681600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr3:119678000-119697400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr3:119678200-119681600	Weak transcription	Primary B cells from cord blood	blood
46	chr3:119678600-119688600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr3:119679000-119681600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:119679200-119696600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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