Variant report

Variant	rs3810151
Chromosome Location	chr19:42728836-42728837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42728388-42728855	K562	blood:	n/a	n/a
2	POLR2A	chr19:42728176-42729787	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr19:42728346-42729665	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:42728356-42729804	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr19:42728280-42731470	K562	blood:	n/a	n/a
6	POLR2A	chr19:42728804-42730623	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42727184..42730289-chr19:42743232..42748648,6	MCF-7	breast:

Variant related genes	Relation type
DEDD2	TF binding region
ENSG00000204957	Chromatin interaction
ENSG00000105723	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10410185	0.82[CHB][hapmap]
rs10410198	0.82[CHB][hapmap]
rs10410698	0.82[CHB][hapmap]
rs10500285	1.00[YRI][hapmap]
rs11880124	1.00[CHB][hapmap]
rs11883412	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][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]
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]
rs16975684	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];0.84[ASN][1000 genomes]
rs17270169	0.89[CEU][hapmap];0.85[CHB][hapmap]
rs17342284	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[YRI][hapmap]
rs17750207	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2267630	0.82[CHB][hapmap];1.00[YRI][hapmap]
rs2303652	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2537697	0.82[CHB][hapmap]
rs2615614	0.82[CHB][hapmap]
rs28621009	0.82[CHB][hapmap]
rs3736109	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs3745231	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3745233	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810148	0.82[CHB][hapmap]
rs3826705	0.89[CEU][hapmap]
rs3826706	1.00[YRI][hapmap]
rs4141062	0.82[CHB][hapmap]
rs59099214	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7248379	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]
rs7251466	0.89[CEU][hapmap]
rs741070	0.82[CHB][hapmap]
rs8108096	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8182491	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs851296	0.82[CHB][hapmap]
rs899661	0.80[CEU][hapmap]
rs9636121	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	nsv961292	chr19:42710814-42734591	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3810151	ZNF219	trans	lymphoblastoid	RTeQTL
rs3810151	DEDD2	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42725000-42747000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:42725200-42735000	Weak transcription	Small Intestine	intestine
3	chr19:42725400-42730600	Weak transcription	Psoas Muscle	Psoas
4	chr19:42725400-42745200	Weak transcription	Fetal Brain Male	brain
5	chr19:42725600-42730200	Weak transcription	NHDF-Ad	bronchial
6	chr19:42725600-42731000	Weak transcription	Fetal Kidney	kidney
7	chr19:42725600-42744000	Weak transcription	Right Atrium	heart
8	chr19:42725600-42745000	Weak transcription	Fetal Heart	heart
9	chr19:42726000-42730800	Strong transcription	A549	lung
10	chr19:42726000-42733800	Strong transcription	Fetal Stomach	stomach
11	chr19:42726200-42730400	Strong transcription	NHEK	skin
12	chr19:42726200-42730600	Weak transcription	HSMM	muscle
13	chr19:42726200-42733400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:42726200-42733800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:42726400-42730400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:42726400-42733000	Strong transcription	Fetal Muscle Trunk	muscle
17	chr19:42726400-42733800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:42726400-42734200	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr19:42726400-42741600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:42726600-42730400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:42726600-42731800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:42726600-42732800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:42726600-42733000	Strong transcription	NHLF	lung
24	chr19:42726600-42733800	Strong transcription	Fetal Muscle Leg	muscle
25	chr19:42726600-42741400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:42726800-42729800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:42726800-42732400	Strong transcription	Fetal Intestine Large	intestine
28	chr19:42726800-42734200	Strong transcription	Placenta	Placenta
29	chr19:42726800-42741200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:42726800-42744000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr19:42726800-42745000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:42727000-42730800	Strong transcription	Muscle Satellite Cultured Cells	--
33	chr19:42727000-42731600	Strong transcription	GM12878-XiMat	blood
34	chr19:42727000-42732400	Strong transcription	Fetal Intestine Small	intestine
35	chr19:42727000-42739600	Strong transcription	Thymus	Thymus
36	chr19:42727000-42745000	Weak transcription	Hela-S3	cervix
37	chr19:42727200-42730000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:42727200-42730800	Strong transcription	Gastric	stomach
39	chr19:42727200-42730800	Weak transcription	Stomach Mucosa	stomach
40	chr19:42727200-42733400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr19:42727200-42737600	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr19:42727400-42730600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:42727400-42730600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr19:42727600-42730600	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr19:42728000-42730800	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr19:42728000-42730800	Strong transcription	Osteobl	bone
47	chr19:42728000-42737600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:42728200-42731600	Strong transcription	Brain Substantia Nigra	brain
49	chr19:42728200-42733800	Strong transcription	Stomach Smooth Muscle	stomach
50	chr19:42728200-42734400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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