Variant report

Variant	rs1884631
Chromosome Location	chr14:69475713-69475714
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69463735..69466079-chr14:69475219..69476894,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10139165	0.83[ASN][1000 genomes]
rs11627004	0.83[ASN][1000 genomes]
rs11627476	0.83[ASN][1000 genomes]
rs11628549	0.83[ASN][1000 genomes]
rs12147222	0.83[ASN][1000 genomes]
rs17835996	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1950712	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2176255	0.83[ASN][1000 genomes]
rs2877521	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877522	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877523	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742905	0.83[ASN][1000 genomes]
rs3809393	0.83[ASN][1000 genomes]
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	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
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]

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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69472400-69475800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr14:69472400-69480400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:69472800-69477200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:69472800-69480800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:69472800-69481000	Weak transcription	Esophagus	oesophagus
6	chr14:69473000-69476800	Weak transcription	Hela-S3	cervix
7	chr14:69473000-69477200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:69473000-69477200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:69473000-69479600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:69473000-69479600	Weak transcription	NHLF	lung
11	chr14:69473000-69480600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:69473000-69480600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr14:69473000-69480600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:69473000-69482600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:69473000-69503600	Weak transcription	Right Atrium	heart
16	chr14:69473200-69477400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:69473200-69480400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr14:69473200-69480400	Weak transcription	HUVEC	blood vessel
19	chr14:69473200-69480800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:69473400-69481600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:69474000-69480400	Weak transcription	HepG2	liver
22	chr14:69474600-69475800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:69474600-69475800	Enhancers	Fetal Stomach	stomach
24	chr14:69474800-69476000	Enhancers	Fetal Muscle Leg	muscle
25	chr14:69474800-69477000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:69475000-69475800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:69475000-69476000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:69475200-69475800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:69475200-69475800	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr14:69475200-69475800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr14:69475200-69475800	Enhancers	Adipose Nuclei	Adipose
32	chr14:69475200-69475800	Enhancers	Fetal Lung	lung
33	chr14:69475400-69475800	Enhancers	Fetal Kidney	kidney
34	chr14:69475400-69475800	Enhancers	A549	lung
35	chr14:69475400-69475800	Enhancers	NH-A	brain
36	chr14:69475400-69476000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:69475600-69475800	Enhancers	Aorta	Aorta
38	chr14:69475600-69476000	Enhancers	Fetal Muscle Trunk	muscle
39	chr14:69475600-69476000	Enhancers	Placenta	Placenta
40	chr14:69475600-69479200	Weak transcription	Osteobl	bone
41	chr14:69475600-69480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr14:69475600-69480600	Weak transcription	Stomach Mucosa	stomach

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