Variant report

Variant	rs28364481
Chromosome Location	chr15:42693305-42693306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42691473..42693889-chr15:42699891..42701622,2	K562	blood:
2	chr15:42692136..42694118-chr15:42750435..42753358,2	K562	blood:

Variant related genes	Relation type
ENSG00000092529	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17592	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364389	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364392	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364395	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364396	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364432	1.00[AFR][1000 genomes]
rs28364443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28364534	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7169432	1.00[AMR][1000 genomes]
rs7176832	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7182306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8028539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	nsv832986	chr15:42587825-42753664	Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv832987	chr15:42627447-42792348	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv932995	chr15:42640015-42704121	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3334708	chr15:42664344-42827738	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42656800-42693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:42656800-42697800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:42674000-42694400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr15:42675200-42702800	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:42677000-42693400	Weak transcription	GM12878-XiMat	blood
6	chr15:42678600-42706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:42678800-42694000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:42678800-42702800	Weak transcription	NHLF	lung
9	chr15:42679000-42706800	Weak transcription	Right Atrium	heart
10	chr15:42679200-42694000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr15:42680200-42694000	Weak transcription	Left Ventricle	heart
12	chr15:42680200-42696400	Weak transcription	HSMMtube	muscle
13	chr15:42680600-42693600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr15:42681600-42695400	Strong transcription	Skeletal Muscle Female	skeletal muscle
15	chr15:42681800-42694600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr15:42683800-42704600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:42685000-42693800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr15:42685200-42693600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr15:42686200-42694200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr15:42688200-42693800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr15:42688400-42693400	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr15:42688800-42694400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr15:42689000-42697800	Weak transcription	NHEK	skin
24	chr15:42689000-42712400	Weak transcription	Fetal Brain Male	brain
25	chr15:42689200-42693800	Weak transcription	Colonic Mucosa	Colon
26	chr15:42689400-42693800	Weak transcription	Esophagus	oesophagus
27	chr15:42689400-42696800	Weak transcription	Psoas Muscle	Psoas
28	chr15:42689400-42703200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr15:42689600-42693800	Weak transcription	Right Ventricle	heart
30	chr15:42689800-42706600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:42690000-42693800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr15:42690200-42695600	Strong transcription	Fetal Intestine Small	intestine
33	chr15:42690800-42702400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:42691000-42703000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:42691200-42696000	Strong transcription	Fetal Muscle Leg	muscle
36	chr15:42691200-42696200	Strong transcription	Primary B cells from peripheral blood	blood
37	chr15:42691200-42696400	Strong transcription	Liver	Liver
38	chr15:42691200-42697000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:42691400-42693400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr15:42691400-42695600	Strong transcription	Fetal Intestine Large	intestine
41	chr15:42691400-42696400	Strong transcription	Primary B cells from cord blood	blood
42	chr15:42691400-42696800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr15:42691400-42697200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr15:42691600-42695000	Strong transcription	Rectal Smooth Muscle	rectum
45	chr15:42691600-42697400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr15:42692000-42693600	Weak transcription	Thymus	Thymus
47	chr15:42692000-42693800	Weak transcription	Gastric	stomach
48	chr15:42692000-42693800	Weak transcription	Ovary	ovary
49	chr15:42692200-42693800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr15:42692200-42693800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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