Variant report

Variant	rs78004450
Chromosome Location	chr15:55559269-55559270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55558293..55561051-chr15:55570591..55574257,3	K562	blood:
2	chr15:55531824..55533387-chr15:55558858..55561281,2	K562	blood:
3	chr15:55557840..55559411-chr15:55561178..55563204,2	K562	blood:
4	chr15:55557767..55561627-chr15:55569250..55572425,4	K562	blood:
5	chr15:55545838..55548100-chr15:55559043..55560883,2	K562	blood:
6	chr15:55559026..55561608-chr15:55564139..55565881,2	K562	blood:
7	chr15:55556814..55559793-chr15:55572719..55574257,2	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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

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	chr15:55540600-55561200	Weak transcription	Esophagus	oesophagus
6	chr15:55542400-55581000	Weak transcription	Fetal Intestine Small	intestine
7	chr15:55543800-55559400	Weak transcription	Thymus	Thymus
8	chr15:55545200-55561000	Weak transcription	Lung	lung
9	chr15:55546200-55559800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:55546200-55559800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:55547600-55559400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr15:55547800-55559400	Weak transcription	Osteobl	bone
13	chr15:55547800-55559600	Weak transcription	Colon Smooth Muscle	Colon
14	chr15:55547800-55571400	Weak transcription	Aorta	Aorta
15	chr15:55548000-55559400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:55548400-55560200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr15:55548600-55574800	Weak transcription	Left Ventricle	heart
18	chr15:55549200-55559600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:55549200-55559600	Weak transcription	NHLF	lung
20	chr15:55549200-55571600	Weak transcription	HMEC	breast
21	chr15:55549400-55559600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:55549600-55559600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr15:55550000-55559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:55550000-55559400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:55550000-55571400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:55551000-55561200	Weak transcription	Fetal Kidney	kidney
27	chr15:55553000-55559600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:55553200-55581000	Weak transcription	Fetal Intestine Large	intestine
29	chr15:55555600-55559600	Weak transcription	Stomach Mucosa	stomach
30	chr15:55555600-55560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:55557600-55559400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:55557600-55561600	Strong transcription	Liver	Liver
33	chr15:55558000-55559800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:55558200-55559400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:55558200-55559400	Weak transcription	NHDF-Ad	bronchial
36	chr15:55558200-55559600	Strong transcription	Gastric	stomach
37	chr15:55558400-55559400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr15:55558400-55559600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr15:55558800-55559400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:55558800-55559400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr15:55558800-55559400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr15:55558800-55559400	Enhancers	NH-A	brain
43	chr15:55558800-55559600	Enhancers	Primary T cells from cord blood	blood
44	chr15:55558800-55559600	Enhancers	Primary hematopoietic stem cells	blood
45	chr15:55558800-55559600	Enhancers	Fetal Thymus	thymus
46	chr15:55558800-55559800	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr15:55559000-55559400	Genic enhancers	K562	blood
48	chr15:55559000-55559600	Enhancers	Primary B cells from peripheral blood	blood
49	chr15:55559000-55559600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:55559000-55560000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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