Variant report

Variant	rs8036729
Chromosome Location	chr15:55579869-55579870
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55484699..55490442-chr15:55579270..55584640,8	K562	blood:
2	chr15:55525732..55527261-chr15:55579170..55581534,2	K562	blood:
3	chr15:55579295..55584870-chr15:55607881..55612970,10	K562	blood:
4	chr15:55485508..55492313-chr15:55579801..55583590,12	K562	blood:
5	chr15:55530995..55533093-chr15:55578497..55580439,2	K562	blood:
6	chr15:55577997..55580916-chr15:55603109..55605324,2	MCF-7	breast:
7	chr15:55574462..55576486-chr15:55577587..55580310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069943	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000225973	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11071175	0.83[ASN][1000 genomes]
rs11071177	0.91[ASN][1000 genomes]
rs11635126	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12440730	0.82[ASN][1000 genomes]
rs12595377	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12708446	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12902710	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12902902	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12910733	0.83[ASN][1000 genomes]
rs12912490	0.87[ASN][1000 genomes]
rs2414406	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28459661	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28685005	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28799296	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28852495	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35715239	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4354865	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4558357	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs569333	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs574923	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6493776	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs678892	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7164608	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7166125	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8025833	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8026689	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8032594	0.83[ASN][1000 genomes]
rs8036244	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8036345	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8039771	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8040540	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9972478	0.83[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs8036729	PIGB	cis	Esophagus Muscularis	GTEx
rs8036729	PIGB	cis	lung	GTEx
rs8036729	PIGB	cis	Nerve Tibial	GTEx
rs8036729	PIGB	cis	Artery Tibial	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
2	chr15:55553200-55581000	Weak transcription	Fetal Intestine Large	intestine
3	chr15:55567800-55580800	Weak transcription	Fetal Stomach	stomach
4	chr15:55570200-55580400	Weak transcription	Fetal Thymus	thymus
5	chr15:55570200-55581200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:55570600-55580800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr15:55572000-55580800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:55572200-55581000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr15:55572400-55580800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:55572600-55580000	Weak transcription	HepG2	liver
11	chr15:55572600-55581000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:55574200-55581000	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:55574400-55581400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr15:55574800-55581000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:55575000-55581000	Weak transcription	Esophagus	oesophagus
16	chr15:55575000-55581000	Weak transcription	Right Ventricle	heart
17	chr15:55575000-55581200	Weak transcription	Left Ventricle	heart
18	chr15:55575200-55580800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr15:55575200-55580800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr15:55575200-55581000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:55575200-55581000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr15:55575200-55581000	Weak transcription	Gastric	stomach
23	chr15:55575200-55581000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr15:55575200-55581000	Weak transcription	NHEK	skin
25	chr15:55575400-55580400	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr15:55575400-55580800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:55575400-55581000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:55575400-55581000	Weak transcription	NHDF-Ad	bronchial
29	chr15:55575400-55581000	Weak transcription	NHLF	lung
30	chr15:55575400-55581000	Weak transcription	Osteobl	bone
31	chr15:55575400-55581200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr15:55575600-55580400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr15:55575600-55580800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:55575600-55581200	Weak transcription	Right Atrium	heart
35	chr15:55575800-55580400	Weak transcription	Hela-S3	cervix
36	chr15:55575800-55580600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:55575800-55580600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr15:55575800-55580600	Weak transcription	HMEC	breast
39	chr15:55575800-55580600	Weak transcription	HUVEC	blood vessel
40	chr15:55575800-55580800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:55575800-55581000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr15:55575800-55581000	Weak transcription	Pancreas	Pancrea
43	chr15:55575800-55581000	Weak transcription	Thymus	Thymus
44	chr15:55575800-55581200	Weak transcription	Lung	lung
45	chr15:55575800-55581200	Weak transcription	Small Intestine	intestine
46	chr15:55576800-55580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr15:55576800-55582800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr15:55577000-55580800	Weak transcription	GM12878-XiMat	blood
49	chr15:55577000-55581000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:55577600-55580600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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