Variant report

Variant	rs17819054
Chromosome Location	chr15:55554327-55554328
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:55553510..55555776-chr15:55556679..55558459,2	MCF-7	breast:
2	chr15:55549763..55552169-chr15:55552285..55555168,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10518803	1.00[CHB][hapmap]
rs10518805	1.00[CHB][hapmap]
rs10518808	0.84[EUR][1000 genomes]
rs12438103	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439213	1.00[CHB][hapmap]
rs12439890	1.00[CHB][hapmap]
rs12440497	1.00[CHB][hapmap]
rs12440550	1.00[CHB][hapmap]
rs12441258	1.00[CHB][hapmap]
rs12441440	0.86[EUR][1000 genomes]
rs12442937	1.00[CHB][hapmap]
rs16976218	1.00[JPT][hapmap]
rs16976220	1.00[JPT][hapmap]
rs16976227	1.00[JPT][hapmap]
rs16976229	1.00[JPT][hapmap]
rs16976231	1.00[JPT][hapmap]
rs17238178	1.00[CHB][hapmap]
rs17238220	1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs17819000	1.00[CHB][hapmap]
rs17819012	1.00[CHB][hapmap]
rs7171029	1.00[JPT][hapmap]
rs7171897	1.00[JPT][hapmap]
rs7177930	1.00[CHB][hapmap]
rs73413650	1.00[ASN][1000 genomes]
rs8039254	1.00[CHB][hapmap]
rs9920531	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17819054	PIGB	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55490000-55562800	Weak transcription	Ovary	ovary
2	chr15:55514800-55560400	Weak transcription	Spleen	Spleen
3	chr15:55516000-55559600	Weak transcription	Fetal Stomach	stomach
4	chr15:55520800-55574800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
6	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
7	chr15:55543600-55559200	Weak transcription	Hela-S3	cervix
8	chr15:55543800-55559400	Weak transcription	Thymus	Thymus
9	chr15:55544400-55558800	Weak transcription	Right Ventricle	heart
10	chr15:55544800-55557800	Weak transcription	Pancreas	Pancrea
11	chr15:55545200-55561000	Weak transcription	Lung	lung
12	chr15:55546200-55559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr15:55546200-55559800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:55546200-55559800	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr15:55547400-55555000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:55547600-55559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:55547800-55557400	Weak transcription	NHDF-Ad	bronchial
18	chr15:55547800-55558600	Weak transcription	Fetal Muscle Leg	muscle
19	chr15:55547800-55559400	Weak transcription	Osteobl	bone
20	chr15:55547800-55559600	Weak transcription	Colon Smooth Muscle	Colon
21	chr15:55547800-55571400	Weak transcription	Aorta	Aorta
22	chr15:55548000-55558800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:55548000-55558800	Weak transcription	Fetal Lung	lung
24	chr15:55548000-55559400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr15:55548400-55560200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:55548600-55555400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:55548600-55556000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr15:55548600-55558800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr15:55548600-55559000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr15:55548600-55559200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:55548600-55574800	Weak transcription	Left Ventricle	heart
32	chr15:55549000-55558800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:55549000-55559000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:55549200-55559200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:55549200-55559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr15:55549200-55559600	Weak transcription	NHLF	lung
37	chr15:55549200-55571600	Weak transcription	HMEC	breast
38	chr15:55549400-55559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:55549600-55559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr15:55549600-55559600	Weak transcription	Duodenum Mucosa	Duodenum
41	chr15:55549800-55558800	Weak transcription	Primary T cells from cord blood	blood
42	chr15:55549800-55558800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:55550000-55557000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr15:55550000-55559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:55550000-55559400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:55550000-55571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:55550600-55558000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr15:55550800-55558400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:55551000-55555000	Weak transcription	Stomach Mucosa	stomach
50	chr15:55551000-55555400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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