Variant report

Variant	rs603993
Chromosome Location	chr15:40086307-40086308
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40084367..40086849-chr15:40091680..40094551,3	K562	blood:
2	chr15:40080849..40083373-chr15:40085760..40088536,2	K562	blood:
3	chr15:40086220..40089106-chr15:40229459..40231210,2	K562	blood:
4	chr15:40084460..40086849-chr15:40092960..40094528,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259580	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1027230	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1027231	0.95[AFR][1000 genomes]
rs1166719	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1166720	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1166726	1.00[AFR][1000 genomes]
rs1688088	0.95[AFR][1000 genomes]
rs2631691	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2631716	0.95[AFR][1000 genomes]
rs2631719	0.95[AFR][1000 genomes]
rs2638008	0.95[AFR][1000 genomes]
rs2638011	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs589137	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs596717	0.95[AFR][1000 genomes]
rs612775	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs621970	0.86[AFR][1000 genomes]
rs623984	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs628076	0.95[AFR][1000 genomes]
rs653964	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832978	chr15:39899759-40094881	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats 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
2	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40076000-40103200	Weak transcription	Right Atrium	heart
2	chr15:40076600-40090200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:40076600-40092600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr15:40077200-40092600	Weak transcription	NHEK	skin
5	chr15:40077200-40093200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:40077600-40094600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr15:40080000-40095600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:40080400-40095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr15:40081000-40092400	Weak transcription	HSMMtube	muscle
10	chr15:40081200-40089600	Weak transcription	HSMM	muscle
11	chr15:40081200-40090400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:40081200-40092200	Weak transcription	NH-A	brain
13	chr15:40081200-40093400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr15:40081400-40088600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:40081400-40092800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr15:40081400-40100200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:40082200-40087800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr15:40082400-40090400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr15:40082600-40091800	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr15:40082600-40092000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:40083600-40089600	Weak transcription	Aorta	Aorta
22	chr15:40084600-40086400	Enhancers	NHLF	lung
23	chr15:40084600-40086800	Weak transcription	Fetal Intestine Large	intestine
24	chr15:40084600-40087600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:40084800-40090600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:40085000-40088000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr15:40085400-40089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:40085400-40089800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr15:40085400-40090400	Weak transcription	Adipose Nuclei	Adipose
30	chr15:40085400-40091600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr15:40085400-40092200	Weak transcription	NHDF-Ad	bronchial
32	chr15:40086000-40086600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:40086000-40088800	Weak transcription	Osteobl	bone
34	chr15:40086000-40090200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:40086000-40090400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr15:40086000-40095600	Weak transcription	HUVEC	blood vessel
37	chr15:40086200-40086400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:40086200-40086400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr15:40086200-40086600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr15:40086200-40086600	Enhancers	Fetal Muscle Leg	muscle

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