Variant report

Variant	rs4682801
Chromosome Location	chr3:46021218-46021219
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46013767..46016030-chr3:46019815..46022441,2	K562	blood:
2	chr3:46020688..46022439-chr3:46080709..46083125,2	K562	blood:
3	chr3:46019979..46023374-chr3:46034093..46037294,5	K562	blood:
4	chr3:45979673..45982315-chr3:46020948..46022553,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1047444	0.94[GIH][hapmap]
rs1388605	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1388606	0.83[EUR][1000 genomes]
rs1388608	0.83[EUR][1000 genomes]
rs1392288	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs1463680	0.83[CEU][hapmap]
rs1488373	0.94[GIH][hapmap]
rs1491949	0.83[EUR][1000 genomes]
rs1546076	1.00[CEU][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs1566419	0.83[EUR][1000 genomes]
rs1809733	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1826342	0.83[EUR][1000 genomes]
rs1873616	0.82[EUR][1000 genomes]
rs2101446	0.97[EUR][1000 genomes]
rs2373148	0.95[CEU][hapmap]
rs2373149	0.83[EUR][1000 genomes]
rs2373152	0.82[EUR][1000 genomes]
rs2373155	0.91[CEU][hapmap]
rs4682811	0.82[EUR][1000 genomes]
rs4683158	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4683177	0.83[EUR][1000 genomes]
rs6441938	0.83[EUR][1000 genomes]
rs6764244	0.94[GIH][hapmap]
rs6767559	0.83[EUR][1000 genomes]
rs6786959	0.95[CEU][hapmap]
rs6802312	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6807578	0.81[EUR][1000 genomes]
rs6808712	0.83[EUR][1000 genomes]
rs6809223	0.95[CEU][hapmap]
rs7610953	0.83[EUR][1000 genomes]
rs7622333	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs7625348	0.83[EUR][1000 genomes]
rs7638309	0.95[CEU][hapmap]
rs7653682	1.00[CEU][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs902760	0.83[EUR][1000 genomes]
rs904634	0.98[EUR][1000 genomes]
rs9311388	0.83[EUR][1000 genomes]
rs9810934	0.94[GIH][hapmap]
rs9820016	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs9849771	0.82[EUR][1000 genomes]
rs9869458	0.83[EUR][1000 genomes]
rs9875616	0.83[CEU][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	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	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45981600-46025000	Strong transcription	Fetal Intestine Large	intestine
2	chr3:45986400-46026600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:45986600-46026800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr3:45987200-46027200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:45987400-46026600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr3:45987800-46026400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr3:45987800-46026800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:45987800-46027200	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr3:45988000-46026600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr3:45996200-46025400	Strong transcription	Liver	Liver
11	chr3:46000000-46029600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:46002600-46025000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:46002600-46027200	Weak transcription	A549	lung
14	chr3:46007800-46024200	Weak transcription	Fetal Kidney	kidney
15	chr3:46008600-46026400	Strong transcription	Hela-S3	cervix
16	chr3:46009000-46027800	Weak transcription	Fetal Brain Male	brain
17	chr3:46010200-46022600	Weak transcription	Brain Angular Gyrus	brain
18	chr3:46010200-46024200	Strong transcription	Left Ventricle	heart
19	chr3:46010200-46027000	Weak transcription	Fetal Brain Female	brain
20	chr3:46010200-46029600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr3:46010200-46033000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:46010800-46022400	Weak transcription	Fetal Heart	heart
23	chr3:46013000-46026200	Weak transcription	Brain Germinal Matrix	brain
24	chr3:46013600-46023000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:46013600-46025000	Strong transcription	Fetal Intestine Small	intestine
26	chr3:46013600-46025400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:46013600-46025600	Strong transcription	Fetal Stomach	stomach
28	chr3:46013600-46034000	Genic enhancers	Fetal Thymus	thymus
29	chr3:46014000-46022400	Strong transcription	K562	blood
30	chr3:46014000-46025800	Strong transcription	HepG2	liver
31	chr3:46014000-46026400	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr3:46014200-46026000	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr3:46015000-46022600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:46015000-46025200	Strong transcription	Placenta	Placenta
35	chr3:46015200-46022600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr3:46015400-46021400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:46015400-46026400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:46015600-46021800	Strong transcription	NHLF	lung
39	chr3:46015600-46022000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:46015600-46022600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:46015600-46024600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr3:46015600-46027200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:46015800-46021400	Strong transcription	Osteobl	bone
44	chr3:46015800-46021600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr3:46015800-46026400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr3:46015800-46026800	Strong transcription	Brain Hippocampus Middle	brain
47	chr3:46015800-46027600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr3:46016000-46021400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr3:46016000-46026600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:46016200-46022000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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