Variant report

Variant	rs7248379
Chromosome Location	chr19:42710589-42710590
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42579973..42582348-chr19:42709552..42711601,2	K562	blood:
2	chr19:42705772..42709230-chr19:42709597..42712462,3	MCF-7	breast:
3	chr19:42708751..42711401-chr19:42723383..42725650,2	MCF-7	breast:
4	chr19:42709656..42714046-chr19:42719903..42723160,8	MCF-7	breast:
5	chr19:42709816..42714976-chr19:42719598..42724584,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160570	Chromatin interaction
ENSG00000167625	Chromatin interaction
ENSG00000105732	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10410185	0.82[CHB][hapmap]
rs10410198	0.82[CHB][hapmap]
rs10410698	0.82[CHB][hapmap]
rs10500285	0.93[GIH][hapmap];0.82[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs11878620	0.93[GIH][hapmap];0.80[MEX][hapmap]
rs11880124	1.00[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11883412	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.96[GIH][hapmap];0.80[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1206009	0.82[CHB][hapmap]
rs1206027	0.82[CHB][hapmap]
rs1206029	0.82[CHB][hapmap]
rs1206033	0.82[CHB][hapmap]
rs1206038	0.82[CHB][hapmap]
rs1206040	0.82[CHB][hapmap]
rs1206041	0.82[CHB][hapmap]
rs1206044	0.82[CHB][hapmap]
rs12232804	0.82[EUR][1000 genomes]
rs1613100	0.82[CHB][hapmap]
rs1654623	0.82[CHB][hapmap]
rs1676211	0.82[CHB][hapmap]
rs1676217	0.82[CHB][hapmap]
rs1676221	0.82[CHB][hapmap]
rs1676222	0.82[CHB][hapmap]
rs1685565	0.82[CHB][hapmap]
rs16975663	0.80[CEU][hapmap];0.83[GIH][hapmap];0.81[TSI][hapmap]
rs16975684	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17270057	0.82[EUR][1000 genomes]
rs17270169	0.89[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes]
rs17342179	0.82[EUR][1000 genomes]
rs17342284	0.86[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs17750207	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2267630	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2302485	0.93[GIH][hapmap];0.80[MEX][hapmap]
rs2303652	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2537697	0.82[CHB][hapmap]
rs2615614	0.82[CHB][hapmap]
rs28621009	0.82[CHB][hapmap]
rs3736109	0.80[CEU][hapmap];1.00[YRI][hapmap]
rs3745231	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3745233	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3810148	0.82[CHB][hapmap];0.90[MKK][hapmap]
rs3810151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3826705	0.89[CEU][hapmap];0.93[GIH][hapmap];0.84[TSI][hapmap]
rs3826706	1.00[YRI][hapmap]
rs4141062	0.82[CHB][hapmap];0.93[GIH][hapmap];0.80[MEX][hapmap]
rs59099214	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62119628	0.91[ASN][1000 genomes]
rs7251466	0.89[CEU][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap]
rs73932877	0.82[ASN][1000 genomes]
rs741070	0.82[CHB][hapmap]
rs8108096	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8182491	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851296	0.82[CHB][hapmap]
rs899661	0.80[CEU][hapmap];0.87[TSI][hapmap]
rs9636121	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 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	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7248379	ZNF219	trans	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42696600-42712200	Weak transcription	Fetal Kidney	kidney
2	chr19:42699800-42714000	Weak transcription	Fetal Brain Male	brain
3	chr19:42700200-42714600	Strong transcription	Brain Germinal Matrix	brain
4	chr19:42700400-42714600	Strong transcription	Stomach Smooth Muscle	stomach
5	chr19:42700400-42717200	Weak transcription	Psoas Muscle	Psoas
6	chr19:42700400-42719800	Strong transcription	Fetal Stomach	stomach
7	chr19:42701000-42720200	Weak transcription	Fetal Heart	heart
8	chr19:42701200-42715200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr19:42701200-42719800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:42701400-42714400	Strong transcription	Brain Angular Gyrus	brain
11	chr19:42701400-42715200	Strong transcription	Fetal Brain Female	brain
12	chr19:42701600-42710800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:42701600-42715200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr19:42702000-42711000	Strong transcription	Gastric	stomach
15	chr19:42702000-42714200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:42702000-42715200	Strong transcription	Fetal Intestine Large	intestine
17	chr19:42702000-42719400	Strong transcription	Fetal Intestine Small	intestine
18	chr19:42702200-42711200	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr19:42702200-42714400	Strong transcription	Aorta	Aorta
20	chr19:42702400-42710800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:42702400-42714400	Strong transcription	Brain Cingulate Gyrus	brain
22	chr19:42702400-42714400	Strong transcription	HepG2	liver
23	chr19:42702400-42714600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:42702400-42714600	Strong transcription	Brain Inferior Temporal Lobe	brain
25	chr19:42703000-42720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr19:42704200-42711000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:42704600-42710800	Strong transcription	Brain Anterior Caudate	brain
28	chr19:42704800-42710800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:42704800-42711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr19:42704800-42711600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr19:42704800-42714400	Strong transcription	Brain Substantia Nigra	brain
32	chr19:42705000-42711400	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr19:42705000-42713600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr19:42705800-42714200	Strong transcription	Rectal Smooth Muscle	rectum
35	chr19:42705800-42714400	Strong transcription	Left Ventricle	heart
36	chr19:42706000-42715400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr19:42706200-42720000	Weak transcription	Right Atrium	heart
38	chr19:42706600-42714400	Strong transcription	Brain Hippocampus Middle	brain
39	chr19:42706800-42711200	Strong transcription	Lung	lung
40	chr19:42706800-42714400	Strong transcription	Ovary	ovary
41	chr19:42706800-42714400	Strong transcription	Dnd41	blood
42	chr19:42706800-42714600	Strong transcription	Right Ventricle	heart
43	chr19:42707000-42710800	Strong transcription	Placenta	Placenta
44	chr19:42707000-42712000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:42707000-42714200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
46	chr19:42707200-42710800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr19:42707200-42714600	Strong transcription	Adipose Nuclei	Adipose
48	chr19:42707200-42715600	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:42707200-42715800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr19:42707400-42711200	Strong transcription	Colonic Mucosa	Colon

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