Variant report

Variant	rs28688117
Chromosome Location	chr15:55548889-55548890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55529333..55531848-chr15:55546495..55549479,2	K562	blood:
2	chr15:55542912..55546349-chr15:55547649..55552018,4	K562	blood:
3	chr15:55542658..55546534-chr15:55547557..55552018,8	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28679526	0.81[AFR][1000 genomes]

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	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:76 , 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	chr15:55538600-55549000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
7	chr15:55541200-55549000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
9	chr15:55543400-55550600	Weak transcription	Fetal Kidney	kidney
10	chr15:55543600-55559200	Weak transcription	Hela-S3	cervix
11	chr15:55543800-55559400	Weak transcription	Thymus	Thymus
12	chr15:55544400-55558800	Weak transcription	Right Ventricle	heart
13	chr15:55544800-55557800	Weak transcription	Pancreas	Pancrea
14	chr15:55545200-55549000	Enhancers	Stomach Mucosa	stomach
15	chr15:55545200-55561000	Weak transcription	Lung	lung
16	chr15:55546200-55559200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:55546200-55559800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:55546200-55559800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr15:55547200-55549400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:55547200-55549600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:55547200-55549600	Enhancers	Small Intestine	intestine
22	chr15:55547200-55550000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:55547200-55551000	Genic enhancers	K562	blood
24	chr15:55547200-55553800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:55547400-55549200	Enhancers	HepG2	liver
26	chr15:55547400-55555000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:55547600-55549200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr15:55547600-55549200	Enhancers	HMEC	breast
29	chr15:55547600-55549800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:55547600-55550000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:55547600-55550000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr15:55547600-55559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr15:55547800-55557400	Weak transcription	NHDF-Ad	bronchial
34	chr15:55547800-55558600	Weak transcription	Fetal Muscle Leg	muscle
35	chr15:55547800-55559400	Weak transcription	Osteobl	bone
36	chr15:55547800-55559600	Weak transcription	Colon Smooth Muscle	Colon
37	chr15:55547800-55571400	Weak transcription	Aorta	Aorta
38	chr15:55548000-55551200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:55548000-55551400	Weak transcription	Psoas Muscle	Psoas
40	chr15:55548000-55558800	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:55548000-55558800	Weak transcription	Fetal Lung	lung
42	chr15:55548000-55559400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr15:55548200-55549000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:55548200-55549400	Weak transcription	Primary T cells from cord blood	blood
45	chr15:55548200-55550800	Enhancers	Primary B cells from cord blood	blood
46	chr15:55548200-55551200	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr15:55548200-55551400	Enhancers	Primary B cells from peripheral blood	blood
48	chr15:55548200-55551400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr15:55548400-55549000	Enhancers	Duodenum Mucosa	Duodenum
50	chr15:55548400-55549000	Enhancers	NHEK	skin

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