Variant report

Variant	rs781145
Chromosome Location	chr7:65440370-65440371
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65439785-65440395	K562	blood:	n/a	n/a
2	POLR2A	chr7:65439368-65440405	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr7:65439020-65440508	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:65439284-65440503	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr7:65439020-65442497	K562	blood:	n/a	n/a
6	POLR2A	chr7:65439003-65440498	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:65439020-65440536	K562	blood:	n/a	n/a
8	POLR2A	chr7:65439462-65440409	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:65438884-65441457	GM12892	blood:	n/a	n/a
10	POLR2A	chr7:65440195-65440540	HepG2	liver:	n/a	n/a
11	POLR2A	chr7:65439019-65440433	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65439470..65441298-chr7:65540371..65542201,2	K562	blood:
2	chr7:65438802..65441733-chr7:65444240..65447107,3	MCF-7	breast:
3	chr7:65431361..65432924-chr7:65439699..65441509,2	K562	blood:
4	chr7:65439784..65442429-chr7:65442521..65444614,2	MCF-7	breast:

No data

Variant related genes	Relation type
GUSB	TF binding region
ENSG00000126522	Chromatin interaction
ENSG00000169919	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10229450	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10279841	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10807697	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1167384	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1167385	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1167386	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11768292	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12670952	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12698512	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13237956	0.83[EUR][1000 genomes]
rs1631091	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1701751	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1701757	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1701760	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1723268	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1723275	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1880556	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1917563	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2008188	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2462573	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2658585	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2658587	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2692056	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2939548	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2946579	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2949690	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2949692	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3201569	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34973832	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35135885	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35850374	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4467826	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4718288	0.82[EUR][1000 genomes]
rs55773927	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55796207	0.83[EUR][1000 genomes]
rs56028712	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62470893	0.87[EUR][1000 genomes]
rs66552782	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6945322	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6954920	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6955582	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6960048	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs709604	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs736270	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7383796	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7784623	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7791814	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7809991	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs781143	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781144	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs781151	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs781152	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9530	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1020337	chr7:65371505-65449654	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
4	nsv1025494	chr7:65402301-65515606	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv538906	chr7:65402301-65515606	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888321	chr7:65408904-65449541	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv9823	chr7:65413362-65468020	Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3426468	chr7:65413488-65462982	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3433491	chr7:65414034-65463477	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	nsv1028971	chr7:65414064-65457437	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv888322	chr7:65415647-65466565	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv538907	chr7:65417400-65456089	Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	nsv888323	chr7:65418355-65461080	ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	nsv888324	chr7:65418876-65466565	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv981505	chr7:65428348-65445874	Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs781145	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs781145	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs781145	RP4-756H11.3	cis	Artery Aorta	GTEx
rs781145	RP4-756H11.3	cis	Nerve Tibial	GTEx
rs781145	RP4-756H11.3	cis	Esophagus Mucosa	GTEx
rs781145	RP4-756H11.3	cis	lung	GTEx
rs781145	RP4-756H11.3	cis	Esophagus Muscularis	GTEx
rs781145	RP4-756H11.3	cis	Thyroid	GTEx
rs781145	RP4-756H11.3	cis	Adipose Subcutaneous	GTEx
rs781145	RP4-756H11.3	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65417800-65441600	Strong transcription	Primary T cells from cord blood	blood
2	chr7:65417800-65445400	Weak transcription	Fetal Heart	heart
3	chr7:65418000-65445400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:65418400-65442400	Strong transcription	Adipose Nuclei	Adipose
5	chr7:65418400-65445200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:65418800-65442400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:65418800-65444000	Strong transcription	Dnd41	blood
8	chr7:65418800-65445200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:65418800-65445400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:65418800-65445600	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr7:65418800-65446000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:65419000-65440600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:65419000-65442400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:65419000-65442400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr7:65419000-65442600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:65419000-65445200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr7:65419000-65445400	Strong transcription	Fetal Thymus	thymus
18	chr7:65419000-65445400	Strong transcription	Thymus	Thymus
19	chr7:65419200-65445200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:65419400-65445200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:65419600-65442400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr7:65419600-65444800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:65419800-65445400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:65420200-65445200	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:65420400-65442200	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr7:65420600-65442400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:65420600-65442400	Strong transcription	Fetal Brain Female	brain
28	chr7:65422400-65444800	Strong transcription	Brain Germinal Matrix	brain
29	chr7:65422400-65445600	Weak transcription	Right Atrium	heart
30	chr7:65422600-65442400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:65422800-65440600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:65423000-65441200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:65423000-65441200	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr7:65423000-65442400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr7:65423000-65442400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:65423000-65444800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr7:65423000-65445600	Strong transcription	Fetal Intestine Large	intestine
38	chr7:65423200-65442400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:65423400-65442200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:65423400-65442400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:65423600-65442200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:65423600-65442400	Strong transcription	Right Ventricle	heart
43	chr7:65423600-65445000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:65423600-65445400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:65423600-65445400	Strong transcription	Fetal Muscle Leg	muscle
46	chr7:65423800-65440600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr7:65423800-65441200	Strong transcription	Aorta	Aorta
48	chr7:65423800-65442400	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr7:65423800-65442400	Strong transcription	Left Ventricle	heart
50	chr7:65423800-65445400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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