Variant report

Variant	rs17767074
Chromosome Location	chr14:65149449-65149450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65148900..65150464-chr14:65186037..65188877,2	MCF-7	breast:
2	chr14:65148833..65151255-chr14:65153026..65155458,2	K562	blood:
3	chr14:65143231..65150356-chr14:65170206..65174576,10	MCF-7	breast:
4	chr14:65135349..65138709-chr14:65145103..65149484,4	MCF-7	breast:
5	chr14:65145652..65150075-chr14:65165666..65170172,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction

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

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

rs_ID	r²[population]
rs11158553	1.00[CHB][hapmap]
rs11158556	1.00[CHB][hapmap]
rs11620680	1.00[CHB][hapmap]
rs11621159	1.00[ASW][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes]
rs11621379	0.83[AMR][1000 genomes]
rs11625500	0.83[AMR][1000 genomes]
rs11628301	0.91[AMR][1000 genomes]
rs12884903	0.83[AMR][1000 genomes]
rs12892852	0.83[AMR][1000 genomes]
rs12895353	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes]
rs1553163	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17824827	1.00[CHB][hapmap]
rs229645	1.00[YRI][hapmap]
rs229648	1.00[MEX][hapmap]
rs229653	1.00[YRI][hapmap]
rs34340219	0.91[AMR][1000 genomes]
rs35287494	1.00[CHB][hapmap]
rs71420472	0.91[AMR][1000 genomes]
rs723594	1.00[CHB][hapmap]
rs732311	0.85[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049097	chr14:65027753-65202018	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65142600-65154400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:65145600-65149800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:65145600-65151400	Enhancers	HMEC	breast
4	chr14:65146200-65150200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:65146200-65153200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:65146400-65150000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr14:65146400-65150400	Enhancers	Esophagus	oesophagus
8	chr14:65146400-65151000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:65146600-65150000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr14:65146600-65150200	Enhancers	Rectal Smooth Muscle	rectum
11	chr14:65146600-65151400	Enhancers	Colon Smooth Muscle	Colon
12	chr14:65146600-65151600	Enhancers	Brain Angular Gyrus	brain
13	chr14:65146600-65153200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:65146800-65149600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:65146800-65149600	Enhancers	Fetal Stomach	stomach
16	chr14:65146800-65149600	Enhancers	Fetal Thymus	thymus
17	chr14:65146800-65153000	Enhancers	Fetal Muscle Leg	muscle
18	chr14:65146800-65153000	Enhancers	Placenta	Placenta
19	chr14:65147000-65149600	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr14:65147000-65153000	Enhancers	Fetal Muscle Trunk	muscle
21	chr14:65147000-65155000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:65147200-65150200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:65147200-65150800	Weak transcription	HSMM	muscle
24	chr14:65147200-65151000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:65147600-65151400	Enhancers	Ovary	ovary
26	chr14:65148200-65151400	Enhancers	Pancreas	Pancrea
27	chr14:65148400-65149600	Enhancers	Left Ventricle	heart
28	chr14:65148400-65151200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:65148600-65149600	Enhancers	Stomach Mucosa	stomach
30	chr14:65148600-65149600	Flanking Active TSS	Hela-S3	cervix
31	chr14:65148600-65149800	Flanking Active TSS	Brain Hippocampus Middle	brain
32	chr14:65148600-65149800	Enhancers	Fetal Heart	heart
33	chr14:65148600-65149800	Enhancers	HSMMtube	muscle
34	chr14:65148800-65149600	Enhancers	Right Ventricle	heart
35	chr14:65148800-65149800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:65148800-65149800	Flanking Active TSS	Brain Substantia Nigra	brain
37	chr14:65148800-65150000	Enhancers	Psoas Muscle	Psoas
38	chr14:65148800-65150200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:65148800-65150400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:65149000-65149600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:65149000-65149600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr14:65149000-65149600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr14:65149000-65150000	Flanking Active TSS	Brain Cingulate Gyrus	brain
44	chr14:65149000-65150000	Bivalent Enhancer	HepG2	liver
45	chr14:65149000-65150200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:65149000-65154200	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr14:65149200-65150200	Enhancers	Fetal Kidney	kidney
48	chr14:65149200-65150200	Enhancers	NHEK	skin
49	chr14:65149200-65150800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:65149200-65150800	Weak transcription	Fetal Intestine Small	intestine

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