Variant report

Variant	rs55661134
Chromosome Location	chr15:55610151-55610152
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:55609747-55610530	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr15:55609943-55610481	K562	blood:	n/a	n/a
3	ZNF384	chr15:55610135-55610472	K562	blood:	n/a	n/a
4	CEBPB	chr15:55609935-55610412	HepG2	liver:	n/a	n/a
5	CEBPB	chr15:55610093-55610498	K562	blood:	n/a	n/a
6	POLR2A	chr15:55609939-55610289	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:55609847..55611398-chr15:55646178..55648636,2	K562	blood:
2	chr15:55607556..55615100-chr15:55699006..55703115,13	K562	blood:
3	chr15:55579295..55584870-chr15:55607881..55612970,10	K562	blood:
4	chr15:55607682..55613892-chr15:55697623..55703247,7	K562	blood:
5	chr15:55609486..55611262-chr15:55788891..55791859,2	K562	blood:
6	chr15:55607488..55610247-chr15:55633602..55635929,2	K562	blood:
7	chr15:55609877..55611698-chr15:55698360..55701817,3	MCF-7	breast:
8	chr15:55485173..55489207-chr15:55609824..55611374,3	K562	blood:
9	chr15:55580259..55584808-chr15:55609765..55612829,5	K562	blood:
10	chr15:55610027..55612992-chr15:55688713..55692198,3	K562	blood:
11	chr15:55608625..55613147-chr15:55698683..55702764,8	MCF-7	breast:

No data

Variant related genes	Relation type
PIGB	TF binding region
ENSG00000261652	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000261771	Chromatin interaction
ENSG00000256061	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000260916	Chromatin interaction
ENSG00000069943	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10851588	0.90[ASN][1000 genomes]
rs11071174	0.81[ASN][1000 genomes]
rs11071176	0.81[ASN][1000 genomes]
rs11071180	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11071181	0.90[ASN][1000 genomes]
rs11490399	0.90[ASN][1000 genomes]
rs11629613	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11630409	0.83[ASN][1000 genomes]
rs11632757	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11634665	0.81[ASN][1000 genomes]
rs11635303	0.82[ASN][1000 genomes]
rs11635532	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11636687	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11638111	0.92[ASN][1000 genomes]
rs11638732	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11639418	0.81[ASN][1000 genomes]
rs11639453	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11855382	0.84[ASN][1000 genomes]
rs11857303	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050587	0.90[ASN][1000 genomes]
rs12050662	0.90[ASN][1000 genomes]
rs12050663	0.90[ASN][1000 genomes]
rs12050885	0.81[ASN][1000 genomes]
rs12050905	0.86[ASN][1000 genomes]
rs2290341	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2290343	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2290344	0.95[ASN][1000 genomes]
rs2305424	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2414409	0.90[ASN][1000 genomes]
rs28540063	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28636865	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28657774	0.94[ASN][1000 genomes]
rs28668016	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28680176	0.90[ASN][1000 genomes]
rs28706887	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28748576	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34848296	0.92[ASN][1000 genomes]
rs3743203	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4774760	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4774764	0.90[ASN][1000 genomes]
rs4774766	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55933611	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs55957229	0.81[ASN][1000 genomes]
rs56159619	0.81[ASN][1000 genomes]
rs56257633	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58701687	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60338710	0.85[ASN][1000 genomes]
rs60375490	0.81[ASN][1000 genomes]
rs61387252	0.81[ASN][1000 genomes]
rs61573749	0.85[ASN][1000 genomes]
rs67230579	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67603645	0.92[ASN][1000 genomes]
rs7162777	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7174876	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7183157	0.91[ASN][1000 genomes]
rs7183960	0.91[ASN][1000 genomes]
rs72742273	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72742282	0.91[ASN][1000 genomes]
rs8024695	0.83[ASN][1000 genomes]
rs8034229	0.80[ASN][1000 genomes]
rs9920058	0.91[ASN][1000 genomes]
rs9920522	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers 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	31 gene(s)	inside rSNPs	diseases
2	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv569522	chr15:55532211-55611126	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv904241	chr15:55534342-55611126	Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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	36 gene(s)	inside rSNPs	diseases
9	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	nsv904242	chr15:55550755-55611126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs55661134	PIGB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55583200-55610400	Weak transcription	Pancreas	Pancrea
2	chr15:55597000-55610600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:55597400-55610600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr15:55599000-55610800	Weak transcription	Aorta	Aorta
5	chr15:55601800-55610600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:55602000-55610600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:55602600-55610600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:55602800-55610600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:55603400-55610200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:55604400-55610600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:55604600-55610600	Weak transcription	Brain Germinal Matrix	brain
12	chr15:55605000-55610600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr15:55605000-55610800	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:55605200-55610400	Weak transcription	Right Ventricle	heart
15	chr15:55605200-55610600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:55605200-55610600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:55605200-55610600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:55605200-55610600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr15:55605200-55610600	Weak transcription	Fetal Brain Female	brain
20	chr15:55605200-55610600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr15:55605200-55610800	Weak transcription	Small Intestine	intestine
22	chr15:55605400-55610600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:55605400-55610800	Weak transcription	NHLF	lung
24	chr15:55605600-55610200	Weak transcription	HUVEC	blood vessel
25	chr15:55605600-55610400	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:55605600-55610600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr15:55605600-55610600	Weak transcription	Colonic Mucosa	Colon
28	chr15:55605600-55610600	Weak transcription	Fetal Kidney	kidney
29	chr15:55605600-55610600	Weak transcription	Psoas Muscle	Psoas
30	chr15:55605600-55610800	Weak transcription	Fetal Lung	lung
31	chr15:55605800-55610200	Weak transcription	Fetal Muscle Leg	muscle
32	chr15:55605800-55610600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr15:55605800-55610600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:55605800-55610600	Weak transcription	Osteobl	bone
35	chr15:55605800-55610800	Weak transcription	NH-A	brain
36	chr15:55606000-55610200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr15:55606000-55610200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr15:55606000-55610400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr15:55606000-55610600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr15:55606000-55610600	Weak transcription	Esophagus	oesophagus
41	chr15:55606000-55610600	Weak transcription	Fetal Intestine Large	intestine
42	chr15:55606000-55610600	Weak transcription	Fetal Thymus	thymus
43	chr15:55606000-55610600	Weak transcription	Left Ventricle	heart
44	chr15:55606000-55610600	Weak transcription	Ovary	ovary
45	chr15:55606000-55610600	Weak transcription	HSMMtube	muscle
46	chr15:55606200-55610600	Weak transcription	Fetal Stomach	stomach
47	chr15:55606200-55610600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:55606400-55610400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:55606400-55610400	Weak transcription	Fetal Intestine Small	intestine
50	chr15:55607000-55610600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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