Variant report

Variant	rs8019227
Chromosome Location	chr14:77490236-77490237
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:77487984..77490629-chr14:77518584..77521469,2	K562	blood:
2	chr14:77389377..77391114-chr14:77489216..77491658,2	MCF-7	breast:
3	chr14:77490084..77492980-chr9:122242455..122244169,2	MCF-7	breast:
4	chr14:77424305..77428086-chr14:77489243..77493119,8	K562	blood:
5	chr14:77407999..77435917-chr14:77487081..77498047,88	MCF-7	breast:
6	chr14:77490134..77494390-chr14:77516829..77520880,5	K562	blood:
7	chr14:77482654..77485570-chr14:77487218..77491607,5	K562	blood:
8	chr14:77489341..77492011-chr14:77516829..77518502,2	K562	blood:
9	chr14:77476763..77481157-chr14:77488306..77493620,6	K562	blood:
10	chr14:77482654..77486295-chr14:77487587..77491607,5	K562	blood:
11	chr14:77405277..77435131-chr14:77486188..77514894,184	MCF-7	breast:
12	chr14:77442793..77444904-chr14:77489356..77491386,2	K562	blood:
13	chr14:77360701..77362426-chr14:77488381..77491079,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243225	Chromatin interaction
ENSG00000266553	Chromatin interaction
ENSG00000258602	Chromatin interaction
ENSG00000259058	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10873300	0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs11159246	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.94[ASN][1000 genomes]
rs12431429	0.82[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs1558858	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs183266	0.93[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];0.86[YRI][hapmap];0.82[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1861737	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1990737	0.94[GIH][hapmap]
rs205805	1.00[CEU][hapmap];0.90[CHB][hapmap]
rs205811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs205816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs205817	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28498055	1.00[MEX][hapmap]
rs4903532	0.83[ASN][1000 genomes]
rs4903536	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs6574348	1.00[CEU][hapmap]

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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv1037915	chr14:77461610-77561454	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv542142	chr14:77461610-77561454	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv565210	chr14:77461701-77492891	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1792437	chr14:77468802-77529928	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv902103	chr14:77484210-77540039	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77485400-77490600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:77488000-77490400	Enhancers	Spleen	Spleen
3	chr14:77488000-77490600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:77488000-77490600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr14:77488000-77491400	Enhancers	Stomach Mucosa	stomach
6	chr14:77488200-77490600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:77488200-77491400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:77488200-77491800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:77488400-77490400	Enhancers	Primary T cells fromperipheralblood	blood
10	chr14:77488400-77490600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:77488400-77490600	Genic enhancers	Fetal Stomach	stomach
12	chr14:77488600-77490400	Enhancers	Psoas Muscle	Psoas
13	chr14:77488600-77490400	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr14:77488600-77490400	Genic enhancers	Thymus	Thymus
15	chr14:77488600-77490600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:77488600-77490600	Enhancers	K562	blood
17	chr14:77488600-77490800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:77488600-77490800	Flanking Active TSS	Fetal Brain Male	brain
19	chr14:77488600-77490800	Enhancers	Pancreas	Pancrea
20	chr14:77488600-77491200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr14:77488600-77491400	Weak transcription	Dnd41	blood
22	chr14:77488800-77490400	Enhancers	H9 Cell Line	embryonic stem cell
23	chr14:77488800-77490400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:77488800-77490400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:77488800-77490400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr14:77488800-77490600	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr14:77488800-77490600	Enhancers	HUVEC	blood vessel
28	chr14:77488800-77490800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:77488800-77492200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr14:77489000-77490400	Enhancers	Brain Angular Gyrus	brain
31	chr14:77489000-77490400	Enhancers	Lung	lung
32	chr14:77489000-77491200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr14:77489000-77491200	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr14:77489200-77490400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr14:77489200-77490400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:77489200-77490600	Genic enhancers	Fetal Thymus	thymus
37	chr14:77489200-77490600	Enhancers	Osteobl	bone
38	chr14:77489200-77490800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr14:77489200-77490800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:77489200-77491000	Genic enhancers	Placenta	Placenta
41	chr14:77489200-77491200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr14:77489200-77492800	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr14:77489200-77495600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr14:77489400-77490400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:77489400-77490400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:77489400-77490600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr14:77489400-77490800	Flanking Active TSS	NHEK	skin
48	chr14:77489400-77491000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr14:77489400-77491200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr14:77489400-77491200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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