Variant report

Variant	rs74012263
Chromosome Location	chr15:41623412-41623413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41523451..41525633-chr15:41623235..41625068,3	K562	blood:
2	chr15:41621801..41625398-chr15:41692470..41696241,5	K562	blood:
3	chr15:41407574..41409310-chr15:41622908..41625714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000187446	Chromatin interaction
ENSG00000137806	Chromatin interaction
ENSG00000128908	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2918464	1.00[AMR][1000 genomes]
rs2947487	1.00[AMR][1000 genomes]
rs2947490	1.00[AMR][1000 genomes]
rs35123814	0.98[AFR][1000 genomes]
rs36124939	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55643943	0.82[AFR][1000 genomes]
rs55838056	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56140669	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56687496	1.00[AMR][1000 genomes]
rs57958502	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58165973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59034095	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59073406	1.00[AMR][1000 genomes]
rs59343255	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59659337	1.00[AMR][1000 genomes]
rs59850482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61602493	1.00[AMR][1000 genomes]
rs692377	1.00[AMR][1000 genomes]
rs7162242	0.80[AFR][1000 genomes]
rs7168916	1.00[AMR][1000 genomes]
rs7172892	1.00[AMR][1000 genomes]
rs74012258	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74012264	1.00[AMR][1000 genomes]
rs74012273	0.85[AFR][1000 genomes]
rs74012275	0.86[AFR][1000 genomes]
rs74012276	0.91[AFR][1000 genomes]
rs8025218	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8028208	0.91[AFR][1000 genomes]
rs8029815	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8032010	1.00[AMR][1000 genomes]
rs8032335	1.00[AMR][1000 genomes]
rs8035341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038086	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8038185	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039815	0.91[AFR][1000 genomes]
rs8041170	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9745301	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv977843	chr15:41608625-41625613	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	44 gene(s)	inside rSNPs	diseases
5	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41581200-41623600	Weak transcription	Fetal Brain Male	brain
2	chr15:41581600-41623600	Weak transcription	Fetal Kidney	kidney
3	chr15:41583200-41623600	Weak transcription	HSMM	muscle
4	chr15:41585600-41623600	Weak transcription	Primary B cells from cord blood	blood
5	chr15:41589600-41624000	Weak transcription	Esophagus	oesophagus
6	chr15:41590200-41623600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr15:41591200-41623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:41591200-41624000	Weak transcription	HSMMtube	muscle
9	chr15:41591800-41624000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:41592400-41624000	Weak transcription	Brain Angular Gyrus	brain
11	chr15:41592600-41623800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr15:41593600-41623800	Weak transcription	NH-A	brain
13	chr15:41600600-41623600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:41602400-41623600	Weak transcription	NHDF-Ad	bronchial
15	chr15:41603800-41623600	Weak transcription	Fetal Lung	lung
16	chr15:41604200-41624000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:41605800-41623800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr15:41605800-41623800	Weak transcription	Adipose Nuclei	Adipose
19	chr15:41606400-41623600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr15:41608200-41624200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:41608800-41623600	Weak transcription	Fetal Muscle Leg	muscle
22	chr15:41610000-41624000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr15:41610800-41623600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:41611800-41623600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:41612000-41623600	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr15:41612000-41623600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr15:41616600-41623600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr15:41616600-41624000	Weak transcription	Brain Substantia Nigra	brain
29	chr15:41618800-41623600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:41619000-41623600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr15:41619000-41623600	Weak transcription	Fetal Brain Female	brain
32	chr15:41619200-41623800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr15:41620600-41623600	Weak transcription	Fetal Stomach	stomach
34	chr15:41622400-41624000	Enhancers	Colonic Mucosa	Colon
35	chr15:41622600-41623600	Weak transcription	Primary T cells from cord blood	blood
36	chr15:41623000-41623600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr15:41623000-41623600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr15:41623000-41623600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr15:41623000-41623600	Enhancers	Brain Germinal Matrix	brain
40	chr15:41623000-41623600	Enhancers	Duodenum Mucosa	Duodenum
41	chr15:41623000-41623600	Enhancers	Fetal Intestine Large	intestine
42	chr15:41623000-41623600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr15:41623000-41623600	Flanking Active TSS	Hela-S3	cervix
44	chr15:41623000-41623800	Flanking Active TSS	K562	blood
45	chr15:41623000-41624000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr15:41623000-41624000	Active TSS	Rectal Smooth Muscle	rectum
47	chr15:41623000-41624200	Enhancers	Stomach Mucosa	stomach
48	chr15:41623000-41626800	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr15:41623000-41627200	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr15:41623000-41627200	Active TSS	iPS-15b Cell Line	embryonic stem cell

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