Variant report

Variant	rs2277538
Chromosome Location	chr15:41227050-41227051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:41224445..41227375-chr15:41302953..41304983,2	K562	blood:
2	chr15:41225668..41227259-chr15:41286163..41288486,2	K562	blood:
3	chr15:41226656..41228213-chr15:41382702..41384265,2	K562	blood:
4	chr15:41225052..41227814-chr15:41277173..41281104,3	K562	blood:
5	chr15:41194927..41205036-chr15:41218861..41227276,20	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251161	Chromatin interaction
ENSG00000259463	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12385938	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16971238	0.91[EUR][1000 genomes]
rs1814569	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2412576	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2412578	0.85[CHB][hapmap];0.88[JPT][hapmap];0.88[ASN][1000 genomes]
rs3887640	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs59051743	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61173616	0.82[EUR][1000 genomes]
rs7180318	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73402541	0.91[EUR][1000 genomes]
rs74014714	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8030137	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv904106	chr15:41221067-41259523	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41224400-41231400	Weak transcription	HUVEC	blood vessel
2	chr15:41224800-41227400	Genic enhancers	Spleen	Spleen
3	chr15:41224800-41229800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr15:41224800-41230800	Enhancers	Liver	Liver
5	chr15:41225000-41233600	Weak transcription	Esophagus	oesophagus
6	chr15:41225400-41227200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr15:41225400-41227200	Genic enhancers	Fetal Intestine Small	intestine
8	chr15:41225400-41228600	Weak transcription	Psoas Muscle	Psoas
9	chr15:41225600-41232400	Weak transcription	Brain Anterior Caudate	brain
10	chr15:41225800-41231400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:41225800-41231400	Strong transcription	Fetal Stomach	stomach
12	chr15:41226000-41227200	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:41226000-41227800	Weak transcription	Right Atrium	heart
14	chr15:41226000-41228600	Enhancers	HepG2	liver
15	chr15:41226000-41230000	Weak transcription	A549	lung
16	chr15:41226000-41232000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr15:41226000-41232200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr15:41226000-41232600	Weak transcription	Brain Angular Gyrus	brain
19	chr15:41226000-41233000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr15:41226000-41233400	Weak transcription	Thymus	Thymus
21	chr15:41226200-41227400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:41226200-41228600	Weak transcription	Fetal Thymus	thymus
23	chr15:41226400-41229800	Weak transcription	Stomach Mucosa	stomach
24	chr15:41226600-41227200	Enhancers	Left Ventricle	heart
25	chr15:41226600-41227400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
26	chr15:41226600-41228600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr15:41226600-41231000	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr15:41226800-41227200	Genic enhancers	Duodenum Mucosa	Duodenum
29	chr15:41226800-41227200	Genic enhancers	Fetal Intestine Large	intestine
30	chr15:41226800-41227200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr15:41226800-41227400	Genic enhancers	Gastric	stomach
32	chr15:41226800-41227600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:41226800-41227800	Transcr. at gene 5' and 3'	Lung	lung
34	chr15:41226800-41227800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
35	chr15:41226800-41228400	Genic enhancers	Right Ventricle	heart
36	chr15:41226800-41228600	Genic enhancers	Colonic Mucosa	Colon
37	chr15:41227000-41227200	Bivalent Enhancer	Adipose Nuclei	Adipose
38	chr15:41227000-41227200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr15:41227000-41227800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr15:41227000-41227800	Strong transcription	Pancreatic Islets	Pancreatic Islet
41	chr15:41227000-41227800	Genic enhancers	Placenta	Placenta
42	chr15:41227000-41228000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr15:41227000-41229200	Weak transcription	NHLF	lung
44	chr15:41227000-41229600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr15:41227000-41229800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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