Variant report

Variant	rs9328756
Chromosome Location	chr4:719287-719288
allele	G/T
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	chr4:719170-719543	GM12892	blood:	n/a	n/a
2	POLR2A	chr4:719117-719594	GM12878	blood:	n/a	n/a
3	EGR1	chr4:719104-719426	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr4:719280-719510	GM12891	blood:	n/a	n/a
5	POU2F2	chr4:719233-719553	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:719262-719472	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:719150-719595	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:719215-719516	GM12878	blood:	n/a	n/a
9	POLR2A	chr4:719067-719461	GM12891	blood:	n/a	n/a
10	POLR2A	chr4:719194-719551	GM12891	blood:	n/a	n/a
11	POLR2A	chr4:719179-719390	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:719277-719508	A549	lung:	n/a	n/a
13	POLR2A	chr4:719152-719517	GM12878	blood:	n/a	n/a
14	POLR2A	chr4:719116-719598	GM12892	blood:	n/a	n/a
15	POLR2A	chr4:719264-719497	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:718839..721866-chr4:723337..725230,5	K562	blood:
2	chr4:680791..682732-chr4:718975..721351,2	K562	blood:
3	chr4:718846..721970-chr4:722068..726476,6	K562	blood:

Variant related genes	Relation type
ENSG00000248416	TF binding region
ENSG00000169026	Chromatin interaction
ENSG00000185619	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10034650	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10452329	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13116048	0.88[AFR][1000 genomes]
rs34434107	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7376288	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7377200	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7672618	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	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
12	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv593209	chr4:686563-747810	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv870115	chr4:692811-733794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	esv1833383	chr4:708887-753697	Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv878253	chr4:708932-771587	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
17	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
18	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
19	nsv593210	chr4:712222-725867	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	nsv878256	chr4:712222-744098	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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
25	nsv593211	chr4:716248-725867	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv593212	chr4:716497-725867	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv593213	chr4:716497-726322	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs9328756	RP11-440L14.1	cis	Adipose Subcutaneous	GTEx
rs9328756	PCGF3	cis	Muscle Skeletal	GTEx
rs9328756	RP11-440L14.1	cis	lung	GTEx
rs9328756	AC139887.4	cis	lung	GTEx
rs9328756	RP11-440L14.1	cis	Skin Sun Exposed Lower leg	GTEx
rs9328756	RP11-440L14.1	cis	Whole Blood	GTEx
rs9328756	PCGF3	cis	Heart Left Ventricle	GTEx
rs9328756	PCGF3	cis	Esophagus Muscularis	GTEx
rs9328756	RP11-440L14.1	cis	Nerve Tibial	GTEx
rs9328756	RP11-440L14.1	cis	Artery Aorta	GTEx
rs9328756	AC139887.4	cis	Skin Sun Exposed Lower leg	GTEx
rs9328756	RP11-440L14.1	cis	Esophagus Muscularis	GTEx
rs9328756	AC139887.4	cis	Stomach	GTEx
rs9328756	PCGF3	cis	Esophagus Mucosa	GTEx
rs9328756	AC139887.4	cis	Artery Aorta	GTEx
rs9328756	PCGF3	cis	Adipose Subcutaneous	GTEx
rs9328756	PCGF3	cis	Thyroid	GTEx
rs9328756	PCGF3	cis	lung	GTEx
rs9328756	AC139887.4	cis	Thyroid	GTEx
rs9328756	PCGF3	cis	Stomach	GTEx
rs9328756	RP11-440L14.1	cis	Heart Left Ventricle	GTEx
rs9328756	PCGF3	cis	Nerve Tibial	GTEx
rs9328756	RP11-440L14.1	cis	Artery Tibial	GTEx
rs9328756	AC139887.4	cis	Adipose Subcutaneous	GTEx
rs9328756	AC139887.4	cis	Nerve Tibial	GTEx
rs9328756	PCGF3	cis	Artery Aorta	GTEx
rs9328756	PCGF3	cis	Artery Tibial	GTEx
rs9328756	PCGF3	cis	Skin Sun Exposed Lower leg	GTEx
rs9328756	PCGF3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:701200-724400	Weak transcription	Aorta	Aorta
2	chr4:701400-724400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:701400-724800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr4:702200-754800	Weak transcription	Hela-S3	cervix
5	chr4:702400-720000	Weak transcription	Brain Substantia Nigra	brain
6	chr4:702400-720200	Weak transcription	NH-A	brain
7	chr4:702600-724400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:702800-726600	Weak transcription	Primary B cells from cord blood	blood
9	chr4:703400-724800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:703400-726800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr4:703600-727200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr4:703800-724400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:704000-724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr4:704400-721200	Weak transcription	Small Intestine	intestine
15	chr4:704400-721400	Weak transcription	A549	lung
16	chr4:704600-727600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:704800-724600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:705000-724400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:708200-736400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:708600-719400	Weak transcription	Osteobl	bone
21	chr4:709200-724400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr4:709200-726200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:709200-726200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr4:711800-724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:713200-719400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:713400-727600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr4:714200-726200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:715200-720000	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:715200-724400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr4:715200-726200	Weak transcription	HMEC	breast
31	chr4:715400-719800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:715600-719600	Weak transcription	HUVEC	blood vessel
33	chr4:715600-719800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:715600-719800	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:715600-720600	Enhancers	Ovary	ovary
36	chr4:715600-750200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:715800-719400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:715800-719800	Weak transcription	Brain Angular Gyrus	brain
39	chr4:715800-720000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:716000-719600	Weak transcription	Left Ventricle	heart
41	chr4:716000-719800	Weak transcription	K562	blood
42	chr4:716000-719800	Weak transcription	NHDF-Ad	bronchial
43	chr4:716000-720200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr4:716200-719800	Weak transcription	Brain Anterior Caudate	brain
45	chr4:716200-720200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr4:716200-720800	Weak transcription	Fetal Kidney	kidney
47	chr4:716200-724400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:716400-724600	Weak transcription	NHEK	skin
49	chr4:716800-724800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:717000-719600	Weak transcription	Primary hematopoietic stem cells	blood

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