Variant report

Variant	rs6816792
Chromosome Location	chr4:780707-780708
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:779184..781836-chr4:815756..818416,2	MCF-7	breast:
2	chr4:780193..782237-chr4:884092..886057,2	MCF-7	breast:

Extended variants
information (count: 83 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10471237	0.93[AFR][1000 genomes]
rs11931963	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11934187	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935678	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11936723	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108421	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13108435	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13109607	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13111051	0.96[AFR][1000 genomes]
rs13116062	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13121291	0.91[ASN][1000 genomes]
rs13127293	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13130087	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13138362	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13145884	0.89[AFR][1000 genomes]
rs13149773	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13151015	0.85[ASN][1000 genomes]
rs1894	0.85[ASN][1000 genomes]
rs28548751	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638011	0.96[AFR][1000 genomes]
rs28649762	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3088106	0.86[AFR][1000 genomes]
rs34263120	0.88[ASN][1000 genomes]
rs3733356	0.96[AFR][1000 genomes]
rs3733357	0.94[AFR][1000 genomes]
rs3775137	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775138	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3775139	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775140	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816674	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816675	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3816677	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3816683	0.90[AFR][1000 genomes]
rs3822027	0.96[AFR][1000 genomes]
rs57003523	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59157526	0.81[ASN][1000 genomes]
rs62294126	0.88[ASN][1000 genomes]
rs6811804	0.83[AFR][1000 genomes]
rs6815765	0.91[AFR][1000 genomes]
rs6816802	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6816868	0.95[AFR][1000 genomes]
rs6818983	0.86[ASN][1000 genomes]
rs6821861	0.85[ASN][1000 genomes]
rs6829951	0.85[ASN][1000 genomes]
rs6834724	0.86[ASN][1000 genomes]
rs6838243	0.96[AFR][1000 genomes]
rs6840352	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6848474	0.88[ASN][1000 genomes]
rs6850266	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7336	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7655749	0.96[AFR][1000 genomes]
rs7655941	0.96[AFR][1000 genomes]
rs7661962	0.96[AFR][1000 genomes]
rs7662167	0.89[AFR][1000 genomes]
rs7674850	0.96[AFR][1000 genomes]
rs7696334	0.85[ASN][1000 genomes]
rs7696341	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv818207	chr4:753944-821490	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
17	nsv878261	chr4:756686-1047794	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv1007928	chr4:757263-813885	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv520136	chr4:759709-780883	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
20	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
21	nsv515844	chr4:771587-780883	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv526780	chr4:771587-786401	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
23	nsv521402	chr4:771587-793763	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
24	nsv878262	chr4:771587-865227	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
25	nsv878263	chr4:771587-1047794	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
26	nsv964736	chr4:777089-807477	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs6816792	RP11-440L14.1	cis	Nerve Tibial	GTEx
rs6816792	PCGF3	cis	Skin Sun Exposed Lower leg	GTEx
rs6816792	AC139887.4	cis	Adipose Subcutaneous	GTEx
rs6816792	PCGF3	cis	Artery Aorta	GTEx
rs6816792	PCGF3	cis	Esophagus Muscularis	GTEx
rs6816792	AC139887.4	cis	Nerve Tibial	GTEx
rs6816792	PCGF3	cis	Esophagus Mucosa	GTEx
rs6816792	PCGF3	Cis_1M	lymphoblastoid	RTeQTL
rs6816792	CPLX1	cis	Nerve Tibial	GTEx
rs6816792	RP11-440L14.1	cis	Artery Tibial	GTEx
rs6816792	RP11-440L14.1	cis	Esophagus Mucosa	GTEx
rs6816792	CPLX1	cis	Esophagus Muscularis	GTEx
rs6816792	RP11-440L14.1	cis	Esophagus Muscularis	GTEx
rs6816792	PCGF3	cis	Adipose Subcutaneous	GTEx
rs6816792	RP11-440L14.1	cis	Adipose Subcutaneous	GTEx
rs6816792	RP11-440L14.1	cis	Skin Sun Exposed Lower leg	GTEx
rs6816792	PCGF3	cis	Nerve Tibial	GTEx
rs6816792	PCGF3	cis	Artery Tibial	GTEx

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:777400-780800	Weak transcription	GM12878-XiMat	blood
2	chr4:777800-781800	Weak transcription	Liver	Liver
3	chr4:778400-780800	Bivalent Enhancer	Fetal Brain Male	brain
4	chr4:778400-781200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr4:778600-780800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr4:778600-784800	Bivalent Enhancer	Fetal Thymus	thymus
7	chr4:778800-781400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
8	chr4:779000-781400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr4:779000-781400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
10	chr4:779200-780800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
11	chr4:779200-781000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:779400-780800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
13	chr4:779600-780800	Bivalent/Poised TSS	Left Ventricle	heart
14	chr4:779600-780800	Active TSS	Right Atrium	heart
15	chr4:779600-780800	Active TSS	Right Ventricle	heart
16	chr4:779600-781000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
17	chr4:779800-780800	Active TSS	Psoas Muscle	Psoas
18	chr4:779800-781000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
19	chr4:779800-781200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:780000-780800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
21	chr4:780200-780800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr4:780200-780800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
23	chr4:780200-780800	Bivalent Enhancer	Brain Hippocampus Middle	brain
24	chr4:780200-780800	Bivalent/Poised TSS	Colonic Mucosa	Colon
25	chr4:780200-781200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:780200-781400	Bivalent Enhancer	Fetal Intestine Large	intestine
27	chr4:780200-781800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:780400-780800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:780400-780800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:780400-780800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:780400-780800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:780400-780800	Active TSS	Adipose Nuclei	Adipose
33	chr4:780400-780800	Bivalent Enhancer	Fetal Brain Female	brain
34	chr4:780400-780800	Flanking Active TSS	Ovary	ovary
35	chr4:780400-780800	Weak transcription	Pancreas	Pancrea
36	chr4:780400-781000	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr4:780400-781000	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr4:780400-781200	Enhancers	Gastric	stomach
39	chr4:780400-781400	Bivalent Enhancer	Fetal Stomach	stomach
40	chr4:780400-781800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
41	chr4:780400-781800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
42	chr4:780400-781800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
43	chr4:780400-784800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr4:780600-780800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr4:780600-780800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
46	chr4:780600-780800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr4:780600-780800	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
48	chr4:780600-780800	Bivalent Enhancer	Thymus	Thymus
49	chr4:780600-781000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr4:780600-781000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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