Variant report

Variant	rs34755275
Chromosome Location	chr18:11909259-11909260
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	chr18:11908046-11909302	HepG2	liver:	n/a	n/a
2	MTA3	chr18:11907879-11909796	GM12878	blood:	n/a	n/a
3	MYC	chr18:11909211-11909825	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr18:11908103-11909331	GM12878	blood:	n/a	n/a
5	POLR2A	chr18:11908034-11909826	GM18505	blood:	n/a	n/a
6	POLR2A	chr18:11908039-11909690	GM18951	blood:	n/a	n/a
7	POLR2A	chr18:11908022-11909322	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr18:11907887-11909413	HL-60	blood:	n/a	n/a
9	UBTF	chr18:11908077-11909523	K562	blood:	n/a	n/a
10	HA-E2F1	chr18:11907966-11909300	MCF-7	breast:	n/a	chr18:11908713-11908720 chr18:11908404-11908416 chr18:11908713-11908720 chr18:11908404-11908413 chr18:11908709-11908721 chr18:11908713-11908720 chr18:11909055-11909070 chr18:11908446-11908456 chr18:11908920-11908935
11	MAZ	chr18:11907971-11910210	IMR90	lung:	n/a	n/a
12	POLR2A	chr18:11908117-11910091	K562	blood:	n/a	n/a
13	POLR2A	chr18:11907894-11909826	PBDE	blood:	n/a	n/a
14	POLR2A	chr18:11907210-11909877	GM12891	blood:	n/a	n/a
15	POLR2A	chr18:11908051-11909816	GM12892	blood:	n/a	n/a
16	MXI1	chr18:11907911-11909699	SK-N-SH	brain:	n/a	n/a
17	MAZ	chr18:11907941-11909396	GM12878	blood:	n/a	n/a
18	POLR2A	chr18:11907890-11909865	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr18:11907829-11910060	MCF10A-Er-Src	breast:	n/a	n/a
20	CHD1	chr18:11908052-11909421	GM12878	blood:	n/a	chr18:11909115-11909125 chr18:11908760-11908770
21	POLR2A	chr18:11908020-11909259	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr18:11908047-11909279	GM19193	blood:	n/a	n/a
23	EP300	chr18:11908081-11909272	ECC-1	luminal epithelium:	n/a	chr18:11908343-11908352 chr18:11908601-11908610 chr18:11909020-11909036 chr18:11909013-11909029
24	POLR2A	chr18:11908029-11909452	Raji	blood:	n/a	n/a
25	POLR2A	chr18:11908978-11909314	PANC-1	pancreas:	n/a	n/a
26	MXI1	chr18:11907525-11910099	IMR90	lung:	n/a	n/a
27	BHLHE40	chr18:11908027-11909281	K562	blood:	n/a	chr18:11908550-11908566
28	REST	chr18:11907788-11909564	H1-neurons	neurons:	n/a	chr18:11909007-11909017
29	POLR2A	chr18:11908047-11909625	GM18526	blood:	n/a	n/a
30	POLR2A	chr18:11907056-11909867	IMR90	lung:	n/a	n/a
31	POLR2A	chr18:11907928-11909261	GM12892	blood:	n/a	n/a
32	REST	chr18:11907911-11909313	HL-60	blood:	n/a	chr18:11909007-11909017
33	MYC	chr18:11908121-11909347	K562	blood:	n/a	n/a
34	UBTF	chr18:11907823-11909442	K562	blood:	n/a	n/a
35	RUNX3	chr18:11909247-11909857	GM12878	blood:	n/a	n/a
36	POLR2A	chr18:11908006-11909999	GM12878	blood:	n/a	n/a
37	POLR2A	chr18:11908989-11909400	GM12878	blood:	n/a	n/a
38	POLR2A	chr18:11908088-11909324	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:11908518..11911302-chr18:12009524..12011140,2	MCF-7	breast:
2	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
3	chr18:11848894..11852838-chr18:11907232..11909901,3	MCF-7	breast:
4	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:
5	chr12:56550673..56553390-chr18:11908435..11911361,2	MCF-7	breast:
6	chr18:11899627..11904640-chr18:11906955..11910092,5	MCF-7	breast:
7	chr10:75543773..75546549-chr18:11908703..11911397,2	MCF-7	breast:
8	chr18:11899621..11904572-chr18:11905422..11909871,7	K562	blood:
9	chr18:11885563..11889310-chr18:11906331..11909961,4	MCF-7	breast:
10	chr18:11851217..11853122-chr18:11907362..11910210,4	MCF-7	breast:
11	chr18:11901497..11903544-chr18:11908058..11909728,2	MCF-7	breast:

Variant related genes	Relation type
MPPE1	TF binding region
ENSG00000255112	Chromatin interaction
ENSG00000196465	Chromatin interaction
ENSG00000214655	Chromatin interaction
ENSG00000154889	Chromatin interaction
ENSG00000267165	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000141401	Chromatin interaction
ENSG00000257809	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12967886	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1808930	0.99[ASN][1000 genomes]
rs1808931	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1822378	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6505681	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505682	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6505683	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7506961	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8090869	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8091990	0.95[ASN][1000 genomes]
rs8093997	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs8095656	0.97[ASN][1000 genomes]
rs9965323	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]

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	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
5	nsv1059775	chr18:11892845-11911143	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv909383	chr18:11904266-11926730	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11907200-11909600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:11907200-11909600	Active TSS	Right Atrium	heart
3	chr18:11907400-11909600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:11907600-11909400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr18:11907600-11909400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr18:11907600-11909400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr18:11907600-11909400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr18:11907600-11909400	Active TSS	Ovary	ovary
9	chr18:11907600-11909400	Active TSS	GM12878-XiMat	blood
10	chr18:11907600-11909400	Active TSS	HSMM	muscle
11	chr18:11907600-11909400	Active TSS	NHDF-Ad	bronchial
12	chr18:11907600-11909600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr18:11907600-11909600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:11907600-11909600	Active TSS	Duodenum Mucosa	Duodenum
15	chr18:11907600-11909600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr18:11907600-11909600	Active TSS	Psoas Muscle	Psoas
17	chr18:11907600-11909800	Active TSS	HSMMtube	muscle
18	chr18:11907600-11910000	Active TSS	Colonic Mucosa	Colon
19	chr18:11907800-11909400	Active TSS	Primary T cells fromperipheralblood	blood
20	chr18:11907800-11909400	Active TSS	Brain Angular Gyrus	brain
21	chr18:11907800-11909400	Active TSS	Brain Anterior Caudate	brain
22	chr18:11907800-11909400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr18:11907800-11909400	Active TSS	Fetal Intestine Small	intestine
24	chr18:11907800-11909400	Active TSS	Fetal Muscle Trunk	muscle
25	chr18:11907800-11909400	Active TSS	Placenta	Placenta
26	chr18:11907800-11909400	Active TSS	Fetal Stomach	stomach
27	chr18:11907800-11909400	Active TSS	Fetal Thymus	thymus
28	chr18:11907800-11909400	Active TSS	Stomach Mucosa	stomach
29	chr18:11907800-11909400	Active TSS	A549	lung
30	chr18:11907800-11909600	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr18:11907800-11909600	Active TSS	Aorta	Aorta
32	chr18:11907800-11909600	Active TSS	Colon Smooth Muscle	Colon
33	chr18:11907800-11909600	Active TSS	Right Ventricle	heart
34	chr18:11907800-11909600	Active TSS	Stomach Smooth Muscle	stomach
35	chr18:11907800-11909600	Active TSS	Thymus	Thymus
36	chr18:11907800-11909600	Active TSS	HepG2	liver
37	chr18:11907800-11909600	Active TSS	NHLF	lung
38	chr18:11907800-11909800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:11907800-11909800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr18:11907800-11909800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr18:11907800-11910000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr18:11908000-11909400	Active TSS	Primary monocytes fromperipheralblood	blood
43	chr18:11908000-11909400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr18:11908000-11909400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr18:11908000-11909600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr18:11908200-11909400	Active TSS	Liver	Liver
47	chr18:11908600-11909600	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr18:11909000-11909400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr18:11909000-11909400	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr18:11909000-11909600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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