Variant report

Variant	rs66912405
Chromosome Location	chr5:49962166-49962167
allele	A/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	chr5:49961594-49964348	GM18526	blood:	n/a	n/a
2	POLR2A	chr5:49961505-49964690	GM12891	blood:	n/a	n/a
3	POLR2A	chr5:49962143-49963976	HL-60	blood:	n/a	n/a
4	MAZ	chr5:49961945-49964411	IMR90	lung:	n/a	chr5:49963252-49963261 chr5:49963676-49963685
5	POLR2A	chr5:49961316-49962271	GM12891	blood:	n/a	n/a
6	POLR2A	chr5:49962114-49964801	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:49961626-49964340	GM15510	blood:	n/a	n/a
8	POLR2A	chr5:49961280-49964895	GM12892	blood:	n/a	n/a
9	POLR2A	chr5:49962166-49964359	GM12878	blood:	n/a	n/a
10	ELF1	chr5:49962138-49963932	GM12878	blood:	n/a	chr5:49963440-49963452 chr5:49963351-49963363
11	POLR2A	chr5:49962149-49964349	GM12878	blood:	n/a	n/a
12	POLR2A	chr5:49961583-49964252	GM18951	blood:	n/a	n/a
13	POLR2A	chr5:49961694-49964516	NB4	blood:	n/a	n/a
14	POLR2A	chr5:49961584-49964392	GM12892	blood:	n/a	n/a
15	POU2F2	chr5:49962121-49964334	GM12891	blood:	n/a	chr5:49962360-49962372
16	MXI1	chr5:49962074-49964153	IMR90	lung:	n/a	chr5:49963676-49963691 chr5:49963674-49963689
17	POLR2A	chr5:49962098-49964853	GM12891	blood:	n/a	n/a
18	POLR2A	chr5:49961304-49964881	GM12878	blood:	n/a	n/a
19	ZNF143	chr5:49961896-49963996	GM12878	blood:	n/a	chr5:49963198-49963216 chr5:49963051-49963061 chr5:49962440-49962450 chr5:49962003-49962021 chr5:49963440-49963450 chr5:49962537-49962547
20	POLR2A	chr5:49961622-49964360	GM18505	blood:	n/a	n/a
21	REST	chr5:49961907-49964104	H1-neurons	neurons:	n/a	chr5:49962419-49962437 chr5:49963348-49963366 chr5:49962276-49962286 chr5:49963036-49963050
22	POLR2A	chr5:49962152-49962851	H1-neurons	neurons:	n/a	n/a
23	TBL1XR1	chr5:49962137-49964149	GM12878	blood:	n/a	n/a
24	SIN3A	chr5:49962038-49964300	H1-hESC	embryonic stem cell:	n/a	chr5:49963357-49963368 chr5:49962439-49962452 chr5:49963143-49963151 chr5:49962547-49962558 chr5:49962276-49962285 chr5:49963037-49963051 chr5:49962271-49962282
25	ZNF263	chr5:49961868-49964704	HEK293-T-REx	kidney:	n/a	chr5:49962733-49962754
26	TAF1	chr5:49962130-49964428	H1-hESC	embryonic stem cell:	n/a	n/a
27	TAF1	chr5:49962156-49964355	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:49961766-49964274	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:49962122-49962855	H1-neurons	neurons:	n/a	n/a
30	MAZ	chr5:49961620-49964194	GM12878	blood:	n/a	chr5:49963252-49963261 chr5:49963676-49963685
31	TAF7	chr5:49962121-49963895	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr5:49961320-49964999	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:49961750-49964358	GM19193	blood:	n/a	n/a
34	CHD1	chr5:49961890-49964262	GM12878	blood:	n/a	chr5:49962226-49962236 chr5:49962219-49962229 chr5:49962314-49962324
35	POLR2A	chr5:49961234-49964768	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr5:49961603-49964370	GM19099	blood:	n/a	n/a
37	POLR2A	chr5:49961403-49964470	GM12891	blood:	n/a	n/a
38	POLR2A	chr5:49962150-49964446	GM12891	blood:	n/a	n/a
39	POLR2A	chr5:49961172-49964402	GM12878	blood:	n/a	n/a
40	TAF1	chr5:49961838-49964419	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
PARP8	TF binding region
ENSG00000271752	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10471414	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10737958	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11954386	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12055210	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12153387	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12186752	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1375128	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs152001	0.83[EUR][1000 genomes]
rs154136	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs166863	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs204915	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2354533	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2404958	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2463796	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2463797	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2594708	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs26072	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs27243	0.85[EUR][1000 genomes]
rs27255	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs27598	0.82[EUR][1000 genomes]
rs27934	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs27964	0.84[EUR][1000 genomes]
rs282544	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs282548	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs282555	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs282556	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs282560	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2883460	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs32396	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36077571	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3864235	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4548483	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55932149	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56670602	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs61401688	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62366908	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62366910	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62366941	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6450384	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6450391	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7717033	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016583	chr5:49455624-50116720	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1023140	chr5:49455624-50121623	Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv918220	chr5:49584188-50111282	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv931010	chr5:49584189-50118254	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv523212	chr5:49597497-50058043	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv2757995	chr5:49748352-50058182	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv2759342	chr5:49748352-50058182	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	esv16870	chr5:49885849-49989415	Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv818352	chr5:49958221-50017724	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv462159	chr5:49960673-50229851	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv598108	chr5:49960673-50229851	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv968172	chr5:49961360-49966431	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv968910	chr5:49961360-49980983	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs66912405	PARP8	cis	Adipose Subcutaneous	GTEx
rs66912405	PARP8	cis	Esophagus Muscularis	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49959600-49962200	Weak transcription	Left Ventricle	heart
2	chr5:49959800-49962200	Weak transcription	Lung	lung
3	chr5:49959800-49962200	Weak transcription	Spleen	Spleen
4	chr5:49961200-49962200	Weak transcription	Pancreas	Pancrea
5	chr5:49961400-49962200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:49961400-49962400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:49961600-49962200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr5:49961600-49962200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr5:49961600-49962200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr5:49961600-49962200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:49961600-49962200	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr5:49961600-49963000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:49961600-49963000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:49961600-49963200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr5:49961600-49964400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:49961600-49964600	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr5:49961600-49964800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr5:49961600-49964800	Active TSS	Duodenum Mucosa	Duodenum
19	chr5:49961600-49965200	Active TSS	GM12878-XiMat	blood
20	chr5:49961600-49965400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr5:49961800-49962200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr5:49961800-49962400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:49961800-49962400	Active TSS	Colonic Mucosa	Colon
24	chr5:49961800-49962400	Flanking Active TSS	Dnd41	blood
25	chr5:49961800-49962600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
26	chr5:49961800-49962600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr5:49961800-49962600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr5:49961800-49963000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:49961800-49964400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:49961800-49964400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:49961800-49964400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:49961800-49964400	Active TSS	Colon Smooth Muscle	Colon
33	chr5:49961800-49964400	Active TSS	Esophagus	oesophagus
34	chr5:49961800-49964400	Active TSS	Fetal Stomach	stomach
35	chr5:49961800-49964400	Active TSS	Rectal Smooth Muscle	rectum
36	chr5:49961800-49964400	Active TSS	Right Atrium	heart
37	chr5:49961800-49964400	Active TSS	Small Intestine	intestine
38	chr5:49961800-49964400	Active TSS	Hela-S3	cervix
39	chr5:49961800-49964400	Active TSS	HSMMtube	muscle
40	chr5:49961800-49964400	Active TSS	NH-A	brain
41	chr5:49961800-49964600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:49961800-49964600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:49961800-49964600	Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr5:49961800-49964600	Active TSS	Liver	Liver
45	chr5:49961800-49964600	Active TSS	Brain Germinal Matrix	brain
46	chr5:49961800-49964600	Active TSS	Fetal Brain Female	brain
47	chr5:49961800-49964600	Active TSS	Fetal Kidney	kidney
48	chr5:49961800-49964600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:49961800-49964800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:49961800-49964800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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