Variant report

Variant	rs6442004
Chromosome Location	chr3:46587606-46587607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46582368..46586773-chr3:46586902..46591684,9	K562	blood:
2	chr3:46565864..46568111-chr3:46586366..46589191,2	K562	blood:
3	chr3:46582873..46586773-chr3:46587066..46590997,5	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs13061783	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13062049	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13069424	0.92[EUR][1000 genomes]
rs13070959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13076697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13077283	0.85[ASN][1000 genomes]
rs13083022	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13093282	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13099992	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13353428	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17078930	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17286758	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28617572	0.95[EUR][1000 genomes]
rs28670418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28687398	0.94[EUR][1000 genomes]
rs34167705	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34227041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34668230	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34767161	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34850133	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35056755	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35082490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35124447	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35740565	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35760835	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35864396	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3934895	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55689943	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55702201	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56106816	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56288081	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442001	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442003	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66627456	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66702674	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67091203	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67222447	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67305272	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67647205	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6769817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770016	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6770574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778422	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6783443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792420	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67962987	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6801427	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6804179	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622507	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73067779	0.92[EUR][1000 genomes]
rs73069915	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73069952	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7624932	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7625793	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626061	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7628435	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648827	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9808967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9866206	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867359	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9871405	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
2	chr3:46556400-46591000	Weak transcription	Psoas Muscle	Psoas
3	chr3:46558400-46591000	Weak transcription	Gastric	stomach
4	chr3:46578400-46599200	Weak transcription	HSMMtube	muscle
5	chr3:46579200-46587800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:46581200-46599200	Weak transcription	Fetal Heart	heart
7	chr3:46581400-46594400	Enhancers	Fetal Thymus	thymus
8	chr3:46581600-46591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr3:46581600-46599400	Weak transcription	Spleen	Spleen
10	chr3:46583000-46588000	Strong transcription	Ovary	ovary
11	chr3:46583200-46590600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:46584400-46598000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr3:46584600-46591000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:46584600-46591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:46584800-46588400	Strong transcription	Left Ventricle	heart
16	chr3:46584800-46588600	Weak transcription	Osteobl	bone
17	chr3:46584800-46590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:46584800-46590800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:46584800-46592600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:46584800-46594000	Weak transcription	NHDF-Ad	bronchial
21	chr3:46584800-46594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:46585000-46588000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:46585200-46587800	Strong transcription	Right Ventricle	heart
24	chr3:46585800-46589600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr3:46586000-46588600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:46586000-46588800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr3:46586000-46589400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:46586200-46588800	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:46586200-46589000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:46586400-46587800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:46586400-46587800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:46586400-46588800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:46586600-46588600	Enhancers	Primary T cells from cord blood	blood
34	chr3:46586600-46589000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr3:46586600-46590000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:46586800-46587800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:46586800-46590800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr3:46586800-46594800	Weak transcription	Liver	Liver
39	chr3:46587000-46588000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr3:46587000-46590000	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr3:46587000-46590400	Enhancers	K562	blood
42	chr3:46587200-46587800	Enhancers	Primary T cells fromperipheralblood	blood
43	chr3:46587200-46587800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr3:46587200-46587800	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr3:46587200-46588000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr3:46587200-46588000	Enhancers	Primary B cells from peripheral blood	blood
47	chr3:46587200-46588600	Enhancers	GM12878-XiMat	blood
48	chr3:46587200-46598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:46587400-46587800	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr3:46587400-46587800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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