Variant report

Variant	rs60175380
Chromosome Location	chr19:51286843-51286844
allele	C/T
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51163913..51166784-chr19:51284486..51287895,4	K562	blood:
2	chr19:51224362..51225310-chr19:51286683..51287471,2	MCF-7	breast:
3	chr19:51041007..51041654-chr19:51286543..51287445,3	K562	blood:
4	chr19:51227416..51228320-chr19:51286480..51287458,4	MCF-7	breast:
5	chr19:51209833..51211949-chr19:51285475..51287425,2	K562	blood:
6	chr19:51207183..51208096-chr19:51286374..51287487,7	MCF-7	breast:
7	chr19:51172348..51173305-chr19:51286580..51287150,2	MCF-7	breast:
8	chr19:51172840..51173412-chr19:51286556..51287097,2	MCF-7	breast:
9	chr19:51227145..51228284-chr19:51286540..51287552,3	K562	blood:
10	chr19:51172347..51173249-chr19:51286160..51287037,4	K562	blood:
11	chr19:51227452..51228299-chr19:51286521..51287286,3	MCF-7	breast:
12	chr19:51162808..51166425-chr19:51284462..51289034,5	K562	blood:
13	chr19:51286798..51289238-chr19:51306756..51308966,2	MCF-7	breast:
14	chr19:51206010..51207137-chr19:51286457..51287510,3	K562	blood:
15	chr19:51282947..51288009-chr19:51296045..51300501,5	K562	blood:
16	chr19:51226538..51229322-chr19:51285146..51288347,3	MCF-7	breast:
17	chr19:51040774..51041635-chr19:51286528..51287054,2	MCF-7	breast:
18	chr19:51207234..51209362-chr19:51285709..51287980,18	K562	blood:
19	chr19:51286546..51287526-chr19:51425133..51426173,3	K562	blood:
20	chr19:51213477..51214266-chr19:51286494..51287355,3	MCF-7	breast:
21	chr19:51281267..51283808-chr19:51285308..51287057,2	K562	blood:
22	chr19:51208318..51209406-chr19:51286560..51287170,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268375	Chromatin interaction
ENSG00000167747	Chromatin interaction
ENSG00000105472	Chromatin interaction
ENSG00000161681	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10412862	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10412900	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12978675	0.88[ASN][1000 genomes]
rs12979334	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12979351	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17800375	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2162784	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2560932	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659060	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659063	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2659064	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs266124	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36046465	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3810283	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3810284	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57028658	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57906560	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58596241	1.00[ASN][1000 genomes]
rs59925776	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60471273	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60817149	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67085056	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67367861	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73584988	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73584997	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73585002	0.87[EUR][1000 genomes]
rs73587469	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73587471	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers 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	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51281600-51287000	Weak transcription	Right Atrium	heart
2	chr19:51285000-51288800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:51285600-51287000	Enhancers	Placenta	Placenta
4	chr19:51285800-51287000	Enhancers	K562	blood
5	chr19:51286000-51287400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr19:51286200-51287000	Enhancers	A549	lung
7	chr19:51286400-51287000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:51286600-51287000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
9	chr19:51286600-51287000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:51286600-51287000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:51286600-51287000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:51286600-51287000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:51286600-51287000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr19:51286600-51287000	Bivalent Enhancer	Fetal Stomach	stomach
15	chr19:51286600-51287000	Enhancers	Osteobl	bone
16	chr19:51286600-51287200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr19:51286600-51287200	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr19:51286600-51287400	Enhancers	Primary B cells from peripheral blood	blood
19	chr19:51286600-51287400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr19:51286600-51287400	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:51286600-51287400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr19:51286800-51287000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:51286800-51287000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:51286800-51287000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:51286800-51287000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr19:51286800-51287000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:51286800-51287000	Enhancers	Fetal Heart	heart
28	chr19:51286800-51287000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
29	chr19:51286800-51287000	Enhancers	HepG2	liver
30	chr19:51286800-51287000	Enhancers	HSMM	muscle
31	chr19:51286800-51287200	Enhancers	Primary B cells from cord blood	blood
32	chr19:51286800-51287200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr19:51286800-51287200	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr19:51286800-51287200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr19:51286800-51287200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr19:51286800-51287200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr19:51286800-51287200	Enhancers	Placenta Amnion	Placenta Amnion
38	chr19:51286800-51287400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr19:51286800-51287400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:51286800-51287400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr19:51286800-51287400	Enhancers	Brain Angular Gyrus	brain
42	chr19:51286800-51289400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:51286800-51296800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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