Variant report

Variant	rs7551128
Chromosome Location	chr1:154182412-154182413
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154182169-154182601	K562	blood:	n/a	n/a
2	POLR2A	chr1:154181596-154182969	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:154182366-154182666	K562	blood:	n/a	n/a
4	POLR2A	chr1:154182217-154182653	GM12878	blood:	n/a	n/a
5	POLR2A	chr1:154182385-154183017	K562	blood:	n/a	n/a
6	POLR2A	chr1:154182330-154182644	HL-60	blood:	n/a	n/a
7	POLR2A	chr1:154182371-154182648	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:154182358-154182565	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:154179639-154182756	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr1:154182303-154182618	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:154177962-154183356	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:154182384-154182602	HepG2	liver:	n/a	n/a
13	POLR2A	chr1:154182408-154182426	A549	lung:	n/a	n/a
14	POLR2A	chr1:154182271-154182670	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:154181502-154183559	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr1:154182254-154182564	GM12891	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:154179244..154180954-chr1:154181456..154183378,2	K562	blood:
2	chr1:154177747..154182716-chr1:154190412..154196946,9	K562	blood:
3	chr1:154181653..154183528-chr1:154184828..154187709,2	MCF-7	breast:
4	chr1:154179575..154184047-chr1:154184381..154189147,7	K562	blood:

No data

Variant related genes	Relation type
C1orf43	TF binding region
C1orf189	TF binding region
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10797067	0.85[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11265040	1.00[YRI][hapmap]
rs11265299	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11586701	1.00[YRI][hapmap]
rs12026475	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1212352	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12408458	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2879788	0.81[EUR][1000 genomes]
rs3828076	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4240871	0.81[EUR][1000 genomes]
rs6719	0.82[EUR][1000 genomes]
rs9803857	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7551128	UBAP2L	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154172000-154184600	Weak transcription	Fetal Brain Male	brain
3	chr1:154172200-154184200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:154172200-154190000	Weak transcription	Fetal Heart	heart
5	chr1:154172400-154184600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:154177000-154191000	Strong transcription	Fetal Stomach	stomach
7	chr1:154177000-154192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:154177200-154187200	Strong transcription	Brain Hippocampus Middle	brain
9	chr1:154177200-154187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:154177200-154187600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:154177200-154190200	Strong transcription	Primary T cells from cord blood	blood
12	chr1:154177400-154190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:154177600-154184600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:154177600-154184800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:154177600-154187000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:154177600-154187000	Strong transcription	Adipose Nuclei	Adipose
17	chr1:154177600-154187000	Strong transcription	Fetal Brain Female	brain
18	chr1:154177600-154187200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:154177600-154187400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:154177600-154187400	Strong transcription	Fetal Thymus	thymus
21	chr1:154177600-154191400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:154177800-154185600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:154177800-154185800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:154177800-154186000	Strong transcription	A549	lung
25	chr1:154177800-154186200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:154177800-154186800	Strong transcription	Liver	Liver
27	chr1:154177800-154187200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:154177800-154187200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr1:154177800-154187200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:154177800-154187200	Strong transcription	Brain Substantia Nigra	brain
31	chr1:154177800-154187200	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr1:154177800-154187200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:154177800-154187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr1:154177800-154187400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:154177800-154187400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:154177800-154187400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr1:154177800-154187400	Strong transcription	Fetal Intestine Large	intestine
38	chr1:154177800-154187600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:154177800-154188000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:154177800-154190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:154177800-154190600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:154177800-154190600	Strong transcription	Fetal Intestine Small	intestine
43	chr1:154177800-154191000	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:154177800-154191400	Strong transcription	Placenta	Placenta
45	chr1:154178000-154185800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:154178000-154185800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:154178000-154185800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:154178000-154186400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:154178000-154187200	Strong transcription	Brain Anterior Caudate	brain
50	chr1:154178000-154189800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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