Variant report

Variant	rs7430992
Chromosome Location	chr3:150273403-150273404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:150273199..150278590-chr3:150279428..150284262,5	K562	blood:
2	chr3:150270755..150273532-chr3:150480304..150482430,2	MCF-7	breast:
3	chr3:150269150..150271098-chr3:150272134..150273991,2	MCF-7	breast:
4	chr3:150271709..150273816-chr3:150275375..150278133,2	K562	blood:

Variant related genes	Relation type
ENSG00000144895	Chromatin interaction
ENSG00000181788	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11548666	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11921309	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11922033	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11924919	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927175	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11927998	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11929205	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12107730	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214539	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440940	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1915945	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1965473	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2030530	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293150	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293151	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55707430	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55723846	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56208302	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56217437	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59885545	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60142519	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61019785	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61667461	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001317	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001332	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001341	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001347	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001362	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001363	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73001365	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73003042	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7650013	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150265200-150299400	Weak transcription	Esophagus	oesophagus
2	chr3:150265200-150302800	Weak transcription	Gastric	stomach
3	chr3:150265400-150279600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:150265400-150305800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:150265600-150273600	Weak transcription	Right Atrium	heart
6	chr3:150265600-150284600	Weak transcription	Right Ventricle	heart
7	chr3:150265600-150293400	Weak transcription	Aorta	Aorta
8	chr3:150265600-150294000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:150265600-150304200	Weak transcription	Fetal Brain Male	brain
10	chr3:150265600-150320600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:150265600-150320600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:150266000-150273600	Weak transcription	Brain Substantia Nigra	brain
13	chr3:150266000-150273600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:150266000-150284400	Weak transcription	Brain Anterior Caudate	brain
15	chr3:150266000-150285000	Weak transcription	Colonic Mucosa	Colon
16	chr3:150266000-150304600	Weak transcription	Fetal Heart	heart
17	chr3:150266000-150307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr3:150266200-150277200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:150266200-150280800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:150266400-150273600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr3:150266400-150274000	Strong transcription	Primary T cells from cord blood	blood
22	chr3:150266400-150274600	Weak transcription	Stomach Mucosa	stomach
23	chr3:150266400-150293400	Weak transcription	Psoas Muscle	Psoas
24	chr3:150266400-150302200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr3:150266600-150273600	Strong transcription	K562	blood
26	chr3:150267200-150273600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:150267200-150278400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:150267400-150274400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:150267400-150274400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr3:150267400-150274400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr3:150267400-150275800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr3:150267600-150274000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr3:150267600-150277000	Strong transcription	HSMM	muscle
34	chr3:150267600-150278600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr3:150268000-150276600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr3:150268200-150274200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr3:150268200-150274200	Strong transcription	Fetal Thymus	thymus
38	chr3:150268200-150282800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:150268400-150276400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:150268400-150278200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr3:150268600-150277000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:150268600-150304000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr3:150268800-150273800	Weak transcription	Pancreas	Pancrea
44	chr3:150269000-150273600	Strong transcription	Hela-S3	cervix
45	chr3:150269400-150275600	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr3:150269400-150284000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:150269600-150279000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr3:150269800-150274000	Strong transcription	Placenta	Placenta
49	chr3:150269800-150274000	Strong transcription	Osteobl	bone
50	chr3:150269800-150274200	Strong transcription	Rectal Mucosa Donor 31	rectum

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