Variant report

Variant	rs2633734
Chromosome Location	chr3:45882935-45882936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11130077	0.81[ASN][1000 genomes]
rs1129183	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13318088	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1488370	0.81[ASN][1000 genomes]
rs1883091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1883092	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286487	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2531756	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2742364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2742365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3774644	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45558831	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683143	0.96[ASN][1000 genomes]
rs60103812	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61157369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823284	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9830944	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836780	1.00[YRI][hapmap]
rs9844499	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9849511	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9868648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9882270	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv3796	chr3:45850961-45886045	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45872400-45883000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:45875600-45883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:45882200-45883000	Flanking Active TSS	Liver	Liver
4	chr3:45882200-45884000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:45882200-45884000	Active TSS	Thymus	Thymus
6	chr3:45882200-45884200	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr3:45882200-45886600	Strong transcription	Dnd41	blood
8	chr3:45882400-45883000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:45882400-45883000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:45882400-45883000	Flanking Active TSS	Fetal Thymus	thymus
11	chr3:45882400-45883000	Enhancers	Small Intestine	intestine
12	chr3:45882400-45883000	Flanking Active TSS	NHEK	skin
13	chr3:45882400-45883200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:45882400-45883200	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr3:45882400-45883200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr3:45882400-45883200	Flanking Active TSS	Fetal Brain Male	brain
17	chr3:45882400-45883200	Flanking Active TSS	Fetal Brain Female	brain
18	chr3:45882400-45883800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:45882400-45884000	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr3:45882400-45884000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:45882400-45884200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr3:45882400-45884400	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr3:45882600-45883000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:45882600-45883000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:45882600-45883000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:45882600-45883000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr3:45882600-45883000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr3:45882600-45883000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr3:45882600-45883000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr3:45882600-45883000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:45882600-45883000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:45882600-45883000	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr3:45882600-45883000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:45882600-45883000	Flanking Active TSS	Fetal Heart	heart
35	chr3:45882600-45883000	Flanking Active TSS	Fetal Lung	lung
36	chr3:45882600-45883000	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr3:45882600-45883000	Flanking Active TSS	Fetal Stomach	stomach
38	chr3:45882600-45883000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr3:45882600-45883000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
40	chr3:45882600-45883000	Enhancers	Spleen	Spleen
41	chr3:45882600-45883000	Flanking Active TSS	GM12878-XiMat	blood
42	chr3:45882600-45883000	Flanking Active TSS	Hela-S3	cervix
43	chr3:45882600-45883000	Flanking Active TSS	HSMMtube	muscle
44	chr3:45882600-45883000	Flanking Active TSS	K562	blood
45	chr3:45882600-45883000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr3:45882600-45883000	Flanking Active TSS	Osteobl	bone
47	chr3:45882600-45883200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr3:45882600-45883200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr3:45882600-45883200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:45882600-45883200	Flanking Active TSS	Brain Germinal Matrix	brain

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