Variant report

Variant	rs7251466
Chromosome Location	chr19:42576952-42576953
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42571181..42573174-chr19:42575458..42577552,2	MCF-7	breast:
2	chr19:42570479..42573430-chr19:42575008..42577066,2	K562	blood:
3	chr19:42462277..42464227-chr19:42574853..42577706,2	K562	blood:
4	chr19:42569439..42573430-chr19:42574335..42577066,3	K562	blood:

Variant related genes	Relation type
ENSG00000105732	Chromatin interaction
ENSG00000105737	Chromatin interaction
ENSG00000105404	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10407506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10500285	1.00[ASW][hapmap];0.81[CEU][hapmap];0.86[CHD][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes]
rs11878917	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11880124	0.86[CHD][hapmap];0.91[TSI][hapmap]
rs11883412	0.86[CHD][hapmap];0.96[TSI][hapmap]
rs12232804	0.93[AMR][1000 genomes]
rs16975663	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MEX][hapmap];0.84[TSI][hapmap];0.85[ASN][1000 genomes]
rs16975684	0.89[CEU][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap]
rs17270057	0.93[AMR][1000 genomes]
rs17270169	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes]
rs17342067	1.00[JPT][hapmap];0.91[AMR][1000 genomes]
rs17342179	0.93[AMR][1000 genomes]
rs17342284	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs2217342	0.91[TSI][hapmap]
rs2303652	0.87[TSI][hapmap]
rs3736109	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745231	0.87[TSI][hapmap]
rs3810151	0.89[CEU][hapmap]
rs3826705	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[TSI][hapmap];0.91[AMR][1000 genomes]
rs407096	0.83[EUR][1000 genomes]
rs443239	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs454150	0.81[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4803520	1.00[ASW][hapmap];0.90[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61195828	1.00[ASN][1000 genomes]
rs7248379	0.89[CEU][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap]
rs7253767	0.91[AMR][1000 genomes]
rs7253791	0.91[AMR][1000 genomes]
rs7253915	0.91[AMR][1000 genomes]
rs8106871	0.91[AMR][1000 genomes]
rs8182491	0.89[CEU][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap]
rs899661	0.90[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	nsv911783	chr19:42575462-42624662	Flanking Active TSS Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7251466	ZNF219	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42557800-42579200	Weak transcription	Gastric	stomach
2	chr19:42574000-42579200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr19:42574400-42578800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr19:42574400-42578800	Weak transcription	Primary T cells from cord blood	blood
5	chr19:42574400-42579000	Weak transcription	Esophagus	oesophagus
6	chr19:42574400-42579200	Weak transcription	Brain Substantia Nigra	brain
7	chr19:42574400-42579200	Weak transcription	Right Ventricle	heart
8	chr19:42574400-42579600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr19:42574600-42579000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr19:42574600-42579200	Weak transcription	Left Ventricle	heart
11	chr19:42574600-42579200	Weak transcription	Right Atrium	heart
12	chr19:42574800-42578800	Weak transcription	Primary B cells from cord blood	blood
13	chr19:42574800-42579000	Weak transcription	Spleen	Spleen
14	chr19:42574800-42579200	Weak transcription	Aorta	Aorta
15	chr19:42574800-42579200	Weak transcription	Fetal Lung	lung
16	chr19:42575000-42578800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr19:42575000-42578800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr19:42575000-42579000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:42575000-42579200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:42575000-42579200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr19:42575000-42579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:42575200-42578800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:42575200-42578800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:42575200-42578800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:42575200-42578800	Weak transcription	Brain Anterior Caudate	brain
26	chr19:42575200-42578800	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:42575200-42578800	Weak transcription	Fetal Stomach	stomach
28	chr19:42575200-42578800	Weak transcription	Fetal Thymus	thymus
29	chr19:42575200-42579000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr19:42575200-42579000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:42575200-42579000	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:42575200-42579200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr19:42575200-42579200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:42575200-42579200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:42575200-42579200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr19:42575200-42579200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr19:42575400-42577000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr19:42575400-42578800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:42575400-42578800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:42575400-42578800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:42575400-42578800	Weak transcription	Brain Germinal Matrix	brain
42	chr19:42575400-42579000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr19:42575400-42579200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr19:42575400-42579200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr19:42575400-42579200	Weak transcription	Brain Angular Gyrus	brain
46	chr19:42575600-42579200	Weak transcription	Fetal Brain Female	brain
47	chr19:42575800-42577000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:42575800-42578800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:42575800-42579000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr19:42575800-42579000	Weak transcription	Fetal Brain Male	brain

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