Variant report

Variant	rs17106418
Chromosome Location	chr14:69332616-69332617
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69331683..69333924-chr14:69444602..69446357,2	MCF-7	breast:
2	chr14:69329871..69332801-chr14:69360773..69363561,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17106415	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17106421	0.90[ASN][1000 genomes]
rs17106449	1.00[ASW][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17106500	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17106502	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs181461	0.82[ASN][1000 genomes]
rs72731600	0.88[ASN][1000 genomes]
rs743126	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs743129	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69310800-69336400	Weak transcription	NHLF	lung
2	chr14:69310800-69339800	Weak transcription	Right Ventricle	heart
3	chr14:69320600-69334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:69321200-69338000	Weak transcription	Gastric	stomach
5	chr14:69322400-69336600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:69323800-69337800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:69324800-69338600	Weak transcription	HepG2	liver
8	chr14:69328000-69334000	Weak transcription	NH-A	brain
9	chr14:69328200-69336600	Weak transcription	HMEC	breast
10	chr14:69328800-69336200	Weak transcription	HSMM	muscle
11	chr14:69329600-69338200	Weak transcription	Pancreas	Pancrea
12	chr14:69330000-69338400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:69330000-69351000	Weak transcription	Fetal Heart	heart
14	chr14:69330200-69338000	Weak transcription	Hela-S3	cervix
15	chr14:69330200-69338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:69330200-69348200	Weak transcription	K562	blood
17	chr14:69331000-69332800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:69331000-69332800	Strong transcription	HSMMtube	muscle
19	chr14:69331200-69332800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:69331200-69332800	Strong transcription	Osteobl	bone
21	chr14:69331200-69338200	Weak transcription	Colonic Mucosa	Colon
22	chr14:69331200-69350800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:69331400-69332800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr14:69331400-69344600	Weak transcription	Brain Angular Gyrus	brain
25	chr14:69331600-69332800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:69331800-69332800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
27	chr14:69332000-69332800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr14:69332000-69332800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:69332000-69332800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:69332000-69332800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr14:69332200-69332800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:69332200-69332800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:69332200-69332800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:69332200-69332800	ZNF genes & repeats	Liver	Liver
35	chr14:69332200-69332800	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr14:69332200-69332800	ZNF genes & repeats	A549	lung
37	chr14:69332200-69332800	ZNF genes & repeats	NHEK	skin
38	chr14:69332200-69333200	ZNF genes & repeats	Aorta	Aorta
39	chr14:69332200-69333200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr14:69332200-69333400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr14:69332200-69333400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
42	chr14:69332400-69332800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:69332400-69332800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:69332400-69332800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
45	chr14:69332400-69332800	ZNF genes & repeats	HUVEC	blood vessel
46	chr14:69332400-69333400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:69332600-69332800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
48	chr14:69332600-69332800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr14:69332600-69332800	ZNF genes & repeats	Esophagus	oesophagus
50	chr14:69332600-69332800	ZNF genes & repeats	Fetal Stomach	stomach

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