Variant report

Variant	rs60352528
Chromosome Location	chr3:48715708-48715709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48713537..48717616-chr3:48720627..48724588,5	MCF-7	breast:
2	chr3:48698738..48703197-chr3:48713751..48717809,8	K562	blood:

Variant related genes	Relation type
ENSG00000213672	Chromatin interaction
ENSG00000008300	Chromatin interaction
ENSG00000228350	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11915428	1.00[EUR][1000 genomes]
rs13318132	1.00[EUR][1000 genomes]
rs14828	1.00[EUR][1000 genomes]
rs28523319	1.00[EUR][1000 genomes]
rs3924179	1.00[EUR][1000 genomes]
rs55782175	1.00[EUR][1000 genomes]
rs58708931	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58835493	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58914641	1.00[EUR][1000 genomes]
rs59352296	1.00[EUR][1000 genomes]
rs60338814	1.00[EUR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6791777	1.00[EUR][1000 genomes]
rs72930094	1.00[EUR][1000 genomes]
rs72931155	1.00[EUR][1000 genomes]
rs72931157	1.00[EUR][1000 genomes]
rs72931171	1.00[EUR][1000 genomes]
rs73830466	1.00[EUR][1000 genomes]
rs73830478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831577	1.00[EUR][1000 genomes]
rs73831579	1.00[EUR][1000 genomes]
rs7633433	1.00[EUR][1000 genomes]
rs898226	1.00[EUR][1000 genomes]
rs9820609	1.00[EUR][1000 genomes]
rs9860187	1.00[EUR][1000 genomes]
rs9876812	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882714	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48701200-48721000	Weak transcription	Fetal Brain Male	brain
2	chr3:48701600-48716800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr3:48701600-48718000	Weak transcription	NHDF-Ad	bronchial
4	chr3:48701600-48720800	Weak transcription	Right Atrium	heart
5	chr3:48701600-48720800	Weak transcription	HUVEC	blood vessel
6	chr3:48701800-48715800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:48701800-48715800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:48701800-48716800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr3:48701800-48721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:48702000-48716800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr3:48702000-48716800	Weak transcription	HSMMtube	muscle
12	chr3:48702000-48721400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr3:48702200-48717000	Weak transcription	K562	blood
14	chr3:48702800-48717000	Weak transcription	Fetal Heart	heart
15	chr3:48704400-48716000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:48705800-48720600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr3:48707200-48721400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:48708200-48720200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:48708200-48720200	Strong transcription	Fetal Brain Female	brain
20	chr3:48708200-48720600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:48708200-48720600	Strong transcription	Fetal Intestine Small	intestine
22	chr3:48708200-48720600	Strong transcription	Fetal Stomach	stomach
23	chr3:48708200-48721000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:48708400-48720400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:48708400-48720400	Strong transcription	Brain Germinal Matrix	brain
26	chr3:48708400-48720400	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr3:48708400-48720800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr3:48708400-48721000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:48708600-48720600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:48708800-48720600	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr3:48709000-48716800	Weak transcription	A549	lung
32	chr3:48709000-48721600	Weak transcription	Psoas Muscle	Psoas
33	chr3:48709200-48720200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr3:48710200-48718000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr3:48710400-48719800	Strong transcription	Brain Cingulate Gyrus	brain
36	chr3:48710400-48721200	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr3:48710600-48716800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:48710600-48720200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr3:48711000-48720200	Strong transcription	Left Ventricle	heart
40	chr3:48711000-48720400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr3:48711200-48720000	Strong transcription	Liver	Liver
42	chr3:48711200-48720000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr3:48711400-48717000	Strong transcription	GM12878-XiMat	blood
44	chr3:48711400-48717200	Strong transcription	Esophagus	oesophagus
45	chr3:48711400-48717200	Strong transcription	Spleen	Spleen
46	chr3:48711400-48717600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr3:48711400-48719200	Strong transcription	Brain Angular Gyrus	brain
48	chr3:48711400-48720000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr3:48711400-48720000	Strong transcription	Aorta	Aorta
50	chr3:48711400-48720000	Strong transcription	Brain Substantia Nigra	brain

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