Variant report

Variant	rs1950712
Chromosome Location	chr14:69480564-69480565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69444426..69446976-chr14:69479738..69482578,2	MCF-7	breast:
2	chr14:69480474..69483155-chr14:69487373..69489941,2	MCF-7	breast:
3	chr14:69479524..69481423-chr14:69483176..69484948,2	K562	blood:
4	chr14:69444869..69447830-chr14:69479738..69482436,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10139165	0.83[ASN][1000 genomes]
rs10498527	1.00[JPT][hapmap]
rs1105625	1.00[JPT][hapmap]
rs11158784	1.00[JPT][hapmap]
rs11158785	1.00[JPT][hapmap]
rs11158786	1.00[JPT][hapmap]
rs11626985	1.00[JPT][hapmap]
rs11627004	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11627476	1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs11628549	0.83[ASN][1000 genomes]
rs12147222	0.83[ASN][1000 genomes]
rs1275417	1.00[JPT][hapmap]
rs1710989	1.00[JPT][hapmap]
rs1710990	1.00[JPT][hapmap]
rs17835996	1.00[CEU][hapmap];0.83[GIH][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1884631	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1914004	1.00[JPT][hapmap]
rs2001355	1.00[JPT][hapmap]
rs2176255	1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[ASN][1000 genomes]
rs2331918	1.00[JPT][hapmap]
rs2877521	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877522	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877523	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742905	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs3809393	0.83[ASN][1000 genomes]
rs4899280	1.00[JPT][hapmap]
rs4902695	1.00[JPT][hapmap]
rs55975366	0.83[ASN][1000 genomes]
rs56097892	0.83[ASN][1000 genomes]
rs56274826	0.83[ASN][1000 genomes]
rs56868917	0.83[ASN][1000 genomes]
rs60900044	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7144704	1.00[JPT][hapmap];1.00[MEX][hapmap]
rs72718286	0.83[ASN][1000 genomes]
rs72718291	0.83[ASN][1000 genomes]
rs72718292	0.83[ASN][1000 genomes]
rs72720212	0.83[ASN][1000 genomes]
rs72720218	0.83[ASN][1000 genomes]
rs9323521	1.00[JPT][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
3	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
8	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:69475600-69480600	Weak transcription	Stomach Mucosa	stomach
11	chr14:69475800-69480600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:69475800-69480600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:69475800-69481000	Weak transcription	NH-A	brain
14	chr14:69477600-69480600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:69477600-69480600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr14:69477800-69480800	Weak transcription	Hela-S3	cervix
17	chr14:69478400-69482000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr14:69479000-69482000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:69479200-69481200	Enhancers	Fetal Muscle Leg	muscle
20	chr14:69479200-69481800	Enhancers	Primary B cells from cord blood	blood
21	chr14:69479400-69481400	Enhancers	Fetal Muscle Trunk	muscle
22	chr14:69479400-69482000	Enhancers	Fetal Intestine Small	intestine
23	chr14:69479600-69481400	Enhancers	Fetal Stomach	stomach
24	chr14:69479600-69482000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr14:69479600-69482000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr14:69479600-69482000	Enhancers	Lung	lung
27	chr14:69479800-69480800	Weak transcription	NHLF	lung
28	chr14:69479800-69480800	Weak transcription	Osteobl	bone
29	chr14:69480000-69480600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:69480200-69481400	Enhancers	Primary hematopoietic stem cells	blood
31	chr14:69480200-69481400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:69480200-69482000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:69480400-69480600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:69480400-69480600	Enhancers	Brain Angular Gyrus	brain
35	chr14:69480400-69480600	Enhancers	HepG2	liver
36	chr14:69480400-69481200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr14:69480400-69481600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr14:69480400-69481600	Enhancers	Placenta	Placenta
39	chr14:69480400-69481600	Enhancers	A549	lung
40	chr14:69480400-69481800	Enhancers	H1 Cell Line	embryonic stem cell
41	chr14:69480400-69481800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr14:69480400-69481800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:69480400-69481800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:69480400-69481800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr14:69480400-69481800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:69480400-69481800	Enhancers	Fetal Intestine Large	intestine
47	chr14:69480400-69481800	Enhancers	Small Intestine	intestine
48	chr14:69480400-69482000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:69480400-69482000	Enhancers	Fetal Lung	lung
50	chr14:69480400-69482000	Enhancers	HUVEC	blood vessel

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