Variant report

Variant	rs7628435
Chromosome Location	chr3:46586378-46586379
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46565864..46568111-chr3:46586366..46589191,2	K562	blood:
2	chr3:46584242..46586784-chr3:46591194..46593105,2	K562	blood:
3	chr3:46574689..46577653-chr3:46585758..46587462,2	K562	blood:
4	chr3:46582873..46586773-chr3:46587066..46590997,5	K562	blood:
5	chr3:46582368..46586773-chr3:46586902..46591684,9	K562	blood:

Variant related genes	Relation type
ENSG00000264306	Chromatin interaction

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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13076697	0.89[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539486	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595844	0.89[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	0.89[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	0.81[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	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34850133	0.81[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	0.84[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	0.84[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442004	0.89[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	0.89[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772291	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778305	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778415	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778422	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6783443	0.89[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	0.89[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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648827	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9808967	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9846026	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9865911	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9866206	0.84[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	0.89[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:58 , 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	chr3:46571600-46587000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:46578400-46599200	Weak transcription	HSMMtube	muscle
6	chr3:46579200-46587800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:46580800-46586400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:46581200-46599200	Weak transcription	Fetal Heart	heart
9	chr3:46581400-46594400	Enhancers	Fetal Thymus	thymus
10	chr3:46581600-46591000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr3:46581600-46599400	Weak transcription	Spleen	Spleen
12	chr3:46581800-46587200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr3:46581800-46587600	Enhancers	Dnd41	blood
14	chr3:46582400-46587200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr3:46583000-46588000	Strong transcription	Ovary	ovary
16	chr3:46583200-46590600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr3:46583400-46587200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr3:46583800-46587200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:46584000-46587400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr3:46584200-46587000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:46584400-46587200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr3:46584400-46587400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:46584400-46598000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:46584600-46586400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr3:46584600-46586800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:46584600-46587200	Weak transcription	GM12878-XiMat	blood
27	chr3:46584600-46591000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:46584600-46591200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:46584800-46586400	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:46584800-46586400	Weak transcription	K562	blood
31	chr3:46584800-46586600	Weak transcription	Primary T cells from cord blood	blood
32	chr3:46584800-46587000	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr3:46584800-46588400	Strong transcription	Left Ventricle	heart
34	chr3:46584800-46588600	Weak transcription	Osteobl	bone
35	chr3:46584800-46590400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:46584800-46590800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:46584800-46592600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:46584800-46594000	Weak transcription	NHDF-Ad	bronchial
39	chr3:46584800-46594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:46585000-46588000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:46585200-46586600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr3:46585200-46587800	Strong transcription	Right Ventricle	heart
43	chr3:46585400-46587600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr3:46585800-46589600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr3:46586000-46586800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:46586000-46587400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr3:46586000-46587400	Enhancers	Thymus	Thymus
48	chr3:46586000-46587600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr3:46586000-46588600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:46586000-46588800	Enhancers	HUES6 Cell Line	embryonic stem cell

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