Variant report

Variant	rs28379050
Chromosome Location	chr15:99949842-99949843
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:99947884..99951610-chr15:100057572..100060447,3	MCF-7	breast:
2	chr15:99942972..99945321-chr15:99949749..99952573,2	K562	blood:
3	chr15:99949149..99950707-chr15:99953216..99956210,2	MCF-7	breast:
4	chr15:99948631..99950805-chr15:100153730..100155690,2	MCF-7	breast:
5	chr15:99949026..99949881-chr15:100243908..100245125,7	MCF-7	breast:
6	chr15:99947710..99950479-chr15:99955909..99957738,2	MCF-7	breast:
7	chr15:99949443..99953317-chr15:100104194..100106896,3	MCF-7	breast:
8	chr15:99948993..99949864-chr15:100244211..100245261,3	MCF-7	breast:
9	chr15:99948929..99949922-chr15:100044731..100045793,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000068305	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11247091	0.89[EUR][1000 genomes]
rs11247092	0.87[EUR][1000 genomes]
rs12593356	0.83[ASN][1000 genomes]
rs12595540	0.83[ASN][1000 genomes]
rs12595654	0.83[ASN][1000 genomes]
rs13379749	0.90[EUR][1000 genomes]
rs13380154	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985459	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28414217	0.84[EUR][1000 genomes]
rs4288976	0.87[EUR][1000 genomes]
rs4393551	0.86[EUR][1000 genomes]
rs4408522	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149147	0.90[EUR][1000 genomes]
rs57515971	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60800535	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74035717	0.90[EUR][1000 genomes]
rs74035721	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74035722	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74035723	0.83[ASN][1000 genomes]
rs8033835	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh 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	45 gene(s)	inside rSNPs	diseases
3	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
7	nsv904546	chr15:99696046-100166300	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv1036346	chr15:99752391-100365458	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv542520	chr15:99752391-100365458	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv1051560	chr15:99837102-100124483	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv817201	chr15:99839238-100537341	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv904547	chr15:99940221-99979159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv904548	chr15:99940221-99979418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv904549	chr15:99940221-99991506	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99944800-99972400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr15:99945000-99954600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:99947400-99951200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr15:99947800-99950000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:99948000-99950000	Enhancers	Placenta	Placenta
6	chr15:99948000-99950000	Enhancers	Right Ventricle	heart
7	chr15:99948000-99950200	Enhancers	Fetal Muscle Leg	muscle
8	chr15:99948000-99950200	Enhancers	Left Ventricle	heart
9	chr15:99948000-99951000	Enhancers	Fetal Stomach	stomach
10	chr15:99948200-99950000	Enhancers	Brain Hippocampus Middle	brain
11	chr15:99948200-99950000	Enhancers	Esophagus	oesophagus
12	chr15:99948200-99950200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr15:99948200-99950200	Enhancers	Colon Smooth Muscle	Colon
14	chr15:99948200-99951000	Enhancers	Fetal Muscle Trunk	muscle
15	chr15:99948200-99951000	Enhancers	Right Atrium	heart
16	chr15:99948200-99951000	Enhancers	HSMMtube	muscle
17	chr15:99948400-99950000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:99948400-99950200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:99948600-99950200	Enhancers	Brain Substantia Nigra	brain
20	chr15:99948600-99950800	Weak transcription	Thymus	Thymus
21	chr15:99949000-99950200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr15:99949000-99952400	Weak transcription	Hela-S3	cervix
23	chr15:99949200-99950000	Weak transcription	Lung	lung
24	chr15:99949200-99950200	Enhancers	Aorta	Aorta
25	chr15:99949200-99950200	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr15:99949400-99950000	Enhancers	Osteobl	bone
27	chr15:99949400-99950200	Enhancers	Rectal Smooth Muscle	rectum
28	chr15:99949400-99950200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr15:99949400-99950200	Enhancers	NHLF	lung
30	chr15:99949400-99950800	Weak transcription	Primary T cells from cord blood	blood
31	chr15:99949400-99951400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:99949400-99954400	Weak transcription	HMEC	breast
33	chr15:99949600-99950000	Enhancers	Adipose Nuclei	Adipose
34	chr15:99949600-99950200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr15:99949600-99950200	Enhancers	Stomach Smooth Muscle	stomach
36	chr15:99949600-99950200	Enhancers	NHDF-Ad	bronchial
37	chr15:99949600-99950600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr15:99949600-99950600	Weak transcription	Fetal Thymus	thymus
39	chr15:99949600-99950800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:99949600-99950800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:99949600-99950800	Weak transcription	Fetal Heart	heart
42	chr15:99949600-99950800	Weak transcription	Spleen	Spleen
43	chr15:99949600-99951200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:99949600-99954800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr15:99949600-99956400	Weak transcription	HepG2	liver
46	chr15:99949800-99954600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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