Variant report

Variant	rs4683417
Chromosome Location	chr3:141745790-141745791
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141724450..141726280-chr3:141745104..141746996,2	K562	blood:
2	chr3:141743220..141745863-chr3:141763714..141765255,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11569198	0.85[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11569216	0.91[ASN][1000 genomes]
rs11569256	0.81[ASN][1000 genomes]
rs12495978	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13069749	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1543064	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1820941	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063453	0.83[CEU][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063454	0.83[CEU][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271386	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2861421	0.82[ASN][1000 genomes]
rs2862122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2862123	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2862124	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2862125	0.89[AMR][1000 genomes]
rs2862126	0.84[ASN][1000 genomes]
rs34092379	0.91[ASN][1000 genomes]
rs34464850	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34486172	0.91[ASN][1000 genomes]
rs34514405	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34579489	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs347689	0.81[ASN][1000 genomes]
rs347690	0.81[ASN][1000 genomes]
rs35486283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35597264	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35787200	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811708	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817176	0.83[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4315664	0.89[ASN][1000 genomes]
rs4315665	0.89[ASN][1000 genomes]
rs56129773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62283132	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6764833	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6778085	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6795301	0.85[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6795500	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6803884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6806443	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619506	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7630837	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7633321	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7638352	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs907293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9289641	0.85[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs963396	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9863685	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9865777	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9880805	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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	25 gene(s)	inside rSNPs	diseases
4	esv2757892	chr3:141728870-142129836	Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759182	chr3:141728870-142129836	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv877553	chr3:141732321-141786073	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv877554	chr3:141735532-141781890	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv877555	chr3:141740076-141791408	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141682800-141745800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:141682800-141746200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr3:141683800-141746600	Weak transcription	Lung	lung
4	chr3:141706400-141746200	Weak transcription	Fetal Lung	lung
5	chr3:141720200-141746600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:141728200-141746200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:141733200-141746200	Weak transcription	Adipose Nuclei	Adipose
8	chr3:141733400-141745800	Weak transcription	Fetal Stomach	stomach
9	chr3:141733400-141746600	Weak transcription	Colon Smooth Muscle	Colon
10	chr3:141733600-141747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:141734600-141746200	Weak transcription	NH-A	brain
12	chr3:141735000-141746200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr3:141735800-141746200	Weak transcription	Right Ventricle	heart
14	chr3:141737800-141746200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr3:141739000-141746200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:141739000-141746400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:141739200-141747200	Weak transcription	Small Intestine	intestine
18	chr3:141739400-141746200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:141739800-141746200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:141739800-141746200	Weak transcription	Left Ventricle	heart
21	chr3:141739800-141746200	Weak transcription	Right Atrium	heart
22	chr3:141739800-141746600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:141740200-141746200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr3:141740400-141746400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr3:141741400-141746400	Weak transcription	Brain Hippocampus Middle	brain
26	chr3:141741600-141746000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr3:141741600-141746200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr3:141741600-141746200	Weak transcription	Fetal Intestine Large	intestine
29	chr3:141741800-141746200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr3:141743600-141746000	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:141743800-141746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr3:141744000-141745800	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr3:141744000-141747800	Active TSS	Thymus	Thymus
34	chr3:141744800-141746000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr3:141744800-141748200	Active TSS	K562	blood
36	chr3:141745000-141746200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr3:141745000-141746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr3:141745000-141747600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:141745200-141745800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr3:141745200-141746200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr3:141745200-141746400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr3:141745200-141747800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr3:141745200-141747800	Active TSS	Fetal Thymus	thymus
44	chr3:141745200-141748000	Active TSS	GM12878-XiMat	blood
45	chr3:141745400-141745800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr3:141745400-141745800	Enhancers	Primary T cells from cord blood	blood
47	chr3:141745400-141745800	Flanking Active TSS	Fetal Kidney	kidney
48	chr3:141745400-141746000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr3:141745400-141746000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr3:141745400-141746000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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