Variant report

Variant	rs13062049
Chromosome Location	chr3:46544131-46544132
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46542684..46544753-chr3:46554640..46556935,2	K562	blood:
2	chr3:46539462..46541927-chr3:46542900..46546171,3	K562	blood:
3	chr3:46542254..46545139-chr3:46598522..46600340,2	K562	blood:
4	chr3:46539335..46541927-chr3:46542072..46545650,5	K562	blood:

Variant related genes	Relation type
ENSG00000268324	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs13061783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13069424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13070959	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13076697	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13077283	0.88[ASN][1000 genomes]
rs13083022	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13099992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13353428	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17286758	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28539486	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28595844	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28617572	0.89[EUR][1000 genomes]
rs28670418	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28687398	0.88[EUR][1000 genomes]
rs34167705	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34227041	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34668230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767161	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34850133	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35056755	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35082490	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35124447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35740565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35760835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35864396	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3934895	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55689943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55702201	0.87[ASN][1000 genomes]
rs56106816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56288081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442003	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442004	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66627456	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66702674	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826527	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs67091203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67222447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67228693	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67305272	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67647205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6769817	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6770016	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770574	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6772291	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778305	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778415	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6778422	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6783443	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6792420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67962987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6801427	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804179	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68095529	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs71622507	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73067779	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73069915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73069952	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624932	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625793	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7626061	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628435	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7648827	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9808967	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9846026	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9865911	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9866206	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9867359	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9871405	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[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	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers 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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46533000-46544200	Weak transcription	Psoas Muscle	Psoas
2	chr3:46537200-46546200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr3:46537200-46547000	Enhancers	Fetal Thymus	thymus
4	chr3:46537200-46550200	Enhancers	K562	blood
5	chr3:46538200-46546800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:46538600-46544600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:46538800-46544400	Weak transcription	Right Atrium	heart
8	chr3:46538800-46546600	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:46538800-46546800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr3:46539000-46547200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:46539200-46547600	Weak transcription	Spleen	Spleen
12	chr3:46539800-46545400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:46540000-46544200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:46541000-46557600	Weak transcription	Left Ventricle	heart
15	chr3:46541000-46580200	Weak transcription	Fetal Heart	heart
16	chr3:46541200-46562200	Weak transcription	Right Ventricle	heart
17	chr3:46541600-46545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:46541600-46545600	Enhancers	Fetal Muscle Leg	muscle
19	chr3:46541600-46545600	Enhancers	HSMM	muscle
20	chr3:46542000-46545200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:46542000-46545600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:46542000-46547000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:46542200-46544600	Weak transcription	NHLF	lung
24	chr3:46542200-46545200	Enhancers	Primary hematopoietic stem cells	blood
25	chr3:46542200-46545600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:46542200-46545800	Enhancers	HSMMtube	muscle
27	chr3:46542800-46544400	Weak transcription	Dnd41	blood
28	chr3:46543000-46544800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr3:46543200-46544400	Enhancers	GM12878-XiMat	blood
30	chr3:46543200-46544600	Weak transcription	Thymus	Thymus
31	chr3:46543200-46545000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:46543400-46544400	Weak transcription	Placenta	Placenta
33	chr3:46543400-46545000	Enhancers	Liver	Liver
34	chr3:46543400-46547400	Weak transcription	Primary B cells from cord blood	blood
35	chr3:46543600-46544800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr3:46543600-46544800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr3:46543600-46545000	Weak transcription	NHDF-Ad	bronchial
38	chr3:46543600-46545200	Weak transcription	Osteobl	bone
39	chr3:46543800-46544200	Weak transcription	Primary T cells from cord blood	blood
40	chr3:46543800-46544600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr3:46544000-46545600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr3:46544000-46545600	Enhancers	Fetal Muscle Trunk	muscle

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