Variant report

Variant	rs2289060
Chromosome Location	chr15:55516486-55516487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:55514943..55517401-chr15:55527045..55529673,2	K562	blood:
2	chr15:55516237..55517775-chr15:55581619..55583951,2	K562	blood:
3	chr15:55514268..55516537-chr15:55573502..55575651,2	K562	blood:

Variant related genes	Relation type
ENSG00000069974	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16976191	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28702437	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165369	1.00[ASN][1000 genomes]
rs7180504	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1043176	chr15:55010228-55563000	Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1039471	chr15:55137606-55552555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
6	nsv1049977	chr15:55502508-55555694	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55489800-55540200	Weak transcription	Esophagus	oesophagus
2	chr15:55490000-55517200	Weak transcription	Aorta	Aorta
3	chr15:55490000-55529400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:55490000-55562800	Weak transcription	Ovary	ovary
5	chr15:55497800-55518400	Weak transcription	Gastric	stomach
6	chr15:55508400-55517000	Weak transcription	Fetal Heart	heart
7	chr15:55508600-55522600	Weak transcription	Colon Smooth Muscle	Colon
8	chr15:55509400-55541600	Weak transcription	Small Intestine	intestine
9	chr15:55510400-55517200	Weak transcription	Fetal Muscle Leg	muscle
10	chr15:55510400-55522600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:55510400-55525000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr15:55510400-55528000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr15:55510600-55523800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:55510800-55521000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:55512800-55541600	Weak transcription	Colonic Mucosa	Colon
16	chr15:55513000-55518000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:55513000-55518200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr15:55513000-55518200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr15:55513200-55517800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr15:55513200-55518200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:55513400-55517800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:55513400-55532400	Weak transcription	Left Ventricle	heart
23	chr15:55513600-55517800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr15:55514000-55516800	Strong transcription	Liver	Liver
25	chr15:55514000-55518600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr15:55514200-55518000	Weak transcription	NHDF-Ad	bronchial
27	chr15:55514200-55518600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr15:55514200-55521400	Weak transcription	HUVEC	blood vessel
29	chr15:55514200-55522000	Weak transcription	NH-A	brain
30	chr15:55514200-55522200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr15:55514200-55523000	Weak transcription	NHEK	skin
32	chr15:55514200-55532000	Weak transcription	Lung	lung
33	chr15:55514200-55532600	Weak transcription	Psoas Muscle	Psoas
34	chr15:55514200-55540400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr15:55514200-55545200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr15:55514400-55517000	Weak transcription	NHLF	lung
37	chr15:55514400-55518000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:55514400-55519600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:55514400-55521800	Weak transcription	Fetal Brain Female	brain
40	chr15:55514400-55541200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:55514600-55517200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:55514600-55522400	Weak transcription	HMEC	breast
43	chr15:55514600-55522600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr15:55514600-55534200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:55514600-55542600	Weak transcription	Hela-S3	cervix
46	chr15:55514600-55543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:55514800-55517000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:55514800-55517000	Weak transcription	HepG2	liver
49	chr15:55514800-55517200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr15:55514800-55522400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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