Variant report

Variant	rs1901529
Chromosome Location	chr15:45001900-45001901
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr15:45001849-45002029	GM12878	blood:	n/a	n/a
2	RFX5	chr15:45001383-45006423	SK-N-SH	brain:	n/a	chr15:45003663-45003672
3	POLR2A	chr15:45001302-45001928	GM12878	blood:	n/a	n/a
4	RFX5	chr15:45001843-45006625	IMR90	lung:	n/a	chr15:45003663-45003672

No.	Distal block	Cell Line	Cell type
1	chr15:44951739..44957508-chr15:45000588..45008057,33	K562	blood:
2	chr15:44996155..44997859-chr15:45001487..45003217,2	K562	blood:
3	chr15:45000863..45005844-chr15:45018710..45023352,9	MCF-7	breast:
4	chr15:44951575..44958275-chr15:45001046..45006983,19	MCF-7	breast:
5	chr15:44952188..44965604-chr15:45001074..45012963,51	K562	blood:

Variant related genes	Relation type
B2M	TF binding region
ENSG00000229474	Chromatin interaction
ENSG00000185880	Chromatin interaction
ENSG00000104133	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12901431	1.00[ASN][1000 genomes]
rs2556568	1.00[ASN][1000 genomes]
rs8037416	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44987200-45002000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:44998200-45002600	Enhancers	Fetal Intestine Small	intestine
3	chr15:44998200-45002800	Enhancers	Stomach Mucosa	stomach
4	chr15:44998800-45002000	Enhancers	Duodenum Mucosa	Duodenum
5	chr15:44999000-45002000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr15:44999400-45002600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr15:44999600-45002000	Enhancers	Primary T cells fromperipheralblood	blood
8	chr15:44999600-45002000	Weak transcription	Thymus	Thymus
9	chr15:44999600-45002800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:44999800-45002600	Weak transcription	NHEK	skin
11	chr15:45000000-45002400	Weak transcription	Small Intestine	intestine
12	chr15:45000000-45002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:45000200-45002000	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr15:45000200-45002000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr15:45000200-45002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:45000200-45002400	Weak transcription	Hela-S3	cervix
17	chr15:45000200-45002600	Weak transcription	HepG2	liver
18	chr15:45000200-45002800	Weak transcription	HMEC	breast
19	chr15:45000200-45003000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr15:45000200-45003200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr15:45000400-45002000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:45000400-45002000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr15:45000400-45002000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr15:45000400-45002200	Weak transcription	Colonic Mucosa	Colon
25	chr15:45000400-45002400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:45000400-45002400	Weak transcription	Lung	lung
27	chr15:45000400-45002400	Weak transcription	Spleen	Spleen
28	chr15:45000400-45002600	Weak transcription	Placenta	Placenta
29	chr15:45000400-45002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr15:45000400-45002800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:45000400-45003000	Weak transcription	Esophagus	oesophagus
32	chr15:45000400-45003200	Weak transcription	Gastric	stomach
33	chr15:45000800-45002000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr15:45000800-45002000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr15:45000800-45002200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr15:45001000-45002000	Enhancers	Primary B cells from peripheral blood	blood
37	chr15:45001000-45002600	Enhancers	Fetal Intestine Large	intestine
38	chr15:45001200-45002000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:45001400-45002000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:45001400-45003000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr15:45001400-45005200	Active TSS	GM12878-XiMat	blood
42	chr15:45001600-45002000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr15:45001600-45002000	Enhancers	Primary hematopoietic stem cells	blood
44	chr15:45001600-45002200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr15:45001800-45002000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr15:45001800-45002000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr15:45001800-45002000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:45001800-45002000	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr15:45001800-45002000	Enhancers	Dnd41	blood
50	chr15:45001800-45002000	Enhancers	K562	blood

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