Variant report

Variant	rs56039703
Chromosome Location	chr6:144929159-144929160
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144924380..144926238-chr6:144929068..144931608,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1016235	0.87[ASN][1000 genomes]
rs11155361	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12201476	0.87[ASN][1000 genomes]
rs13191597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13193448	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13195928	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198102	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13201946	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13203229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13203387	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13205040	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13207026	0.82[EUR][1000 genomes]
rs13218121	0.81[EUR][1000 genomes]
rs1534437	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1554813	0.84[ASN][1000 genomes]
rs1554814	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1554816	1.00[ASN][1000 genomes]
rs1590055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17793810	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1830271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1918744	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1918745	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918748	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2103276	1.00[ASN][1000 genomes]
rs2178128	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34053805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34504312	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34571592	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35161160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35524567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35904953	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3924656	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3924657	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4052725	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4146297	0.81[EUR][1000 genomes]
rs4438980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4582403	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56158631	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67767204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908795	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915390	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918394	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6919793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6920388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6924812	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938409	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938455	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6938776	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73001731	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73005504	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73005509	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73005511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376829	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9376830	0.80[ASN][1000 genomes]
rs9390177	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9390179	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9390180	0.94[EUR][1000 genomes]
rs9403565	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9403566	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9403569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9403570	0.81[EUR][1000 genomes]
rs9497023	0.94[EUR][1000 genomes]
rs952050	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952051	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144881800-144937800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:144885800-144943400	Weak transcription	Ovary	ovary
3	chr6:144899600-144931800	Weak transcription	Esophagus	oesophagus
4	chr6:144904400-144931600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:144904400-144931800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:144904600-144939800	Weak transcription	HSMMtube	muscle
7	chr6:144904800-144935400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:144908800-144947400	Weak transcription	HUVEC	blood vessel
9	chr6:144909400-144931000	Weak transcription	Aorta	Aorta
10	chr6:144914800-144929400	Weak transcription	Fetal Thymus	thymus
11	chr6:144914800-144937800	Weak transcription	HSMM	muscle
12	chr6:144914800-144960000	Weak transcription	Lung	lung
13	chr6:144915000-144934400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:144922200-144938400	Weak transcription	Liver	Liver
15	chr6:144922400-144929400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:144922600-144929800	Weak transcription	Fetal Lung	lung
17	chr6:144922600-144938600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:144922800-144939000	Weak transcription	Fetal Muscle Leg	muscle
19	chr6:144923000-144938000	Weak transcription	NHDF-Ad	bronchial
20	chr6:144924000-144929600	Weak transcription	Thymus	Thymus
21	chr6:144924000-144931600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:144924600-144929200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr6:144924800-144934600	Weak transcription	GM12878-XiMat	blood
24	chr6:144925000-144929400	Weak transcription	Primary T cells from cord blood	blood
25	chr6:144926400-144930600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:144927200-144929400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr6:144927400-144931000	Strong transcription	Primary B cells from cord blood	blood
28	chr6:144927600-144929200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:144927600-144929400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr6:144927600-144932200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:144927800-144929200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr6:144927800-144929600	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr6:144927800-144930400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr6:144928000-144929600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:144928000-144930000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr6:144928000-144930600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:144928200-144929200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr6:144928200-144930400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:144928200-144934600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:144928400-144930000	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr6:144928400-144930000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:144928400-144930200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr6:144928600-144930000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr6:144928600-144930000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:144928600-144930000	Enhancers	Dnd41	blood
46	chr6:144928800-144929600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr6:144928800-144929600	Strong transcription	HepG2	liver
48	chr6:144928800-144930200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr6:144928800-144930200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:144928800-144930200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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